CR2Cancer

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF06470 SMC proteins Flexible Hinge Domain
PF02463 RecF/RecN/SMC N terminal domain

Function

Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint.

Classification

Class	Modification	Substrate	Product	PubMed
#	#	#	#	#

> Gene Ontology [ TOP ]
Biological Process	GO:0000070 mitotic sister chromatid segregation GO:0000075 cell cycle checkpoint GO:0000819 sister chromatid segregation GO:0006260 DNA replication GO:0006261 DNA-dependent DNA replication GO:0006275 regulation of DNA replication GO:0007052 mitotic spindle organization GO:0007059 chromosome segregation GO:0007062 sister chromatid cohesion GO:0007064 mitotic sister chromatid cohesion GO:0007067 mitotic nuclear division GO:0007093 mitotic cell cycle checkpoint GO:0007126 meiotic nuclear division GO:0007346 regulation of mitotic cell cycle GO:0008156 negative regulation of DNA replication GO:0009314 response to radiation GO:0010948 negative regulation of cell cycle process GO:0016925 protein sumoylation GO:0018205 peptidyl-lysine modification GO:0019827 stem cell population maintenance GO:0032875 regulation of DNA endoreduplication GO:0032876 negative regulation of DNA endoreduplication GO:0042023 DNA endoreduplication GO:0042770 signal transduction in response to DNA damage GO:0044786 cell cycle DNA replication GO:0045786 negative regulation of cell cycle GO:0045930 negative regulation of mitotic cell cycle GO:0051052 regulation of DNA metabolic process GO:0051053 negative regulation of DNA metabolic process GO:0051321 meiotic cell cycle GO:0090329 regulation of DNA-dependent DNA replication GO:0098727 maintenance of cell number GO:0098813 nuclear chromosome segregation GO:1903046 meiotic cell cycle process GO:2000104 negative regulation of DNA-dependent DNA replication
Molecular Function	GO:0003682 chromatin binding GO:0036033 mediator complex binding GO:0046982 protein heterodimerization activity
Cellular Component	GO:0000775 chromosome, centromeric region GO:0000776 kinetochore GO:0000777 condensed chromosome kinetochore GO:0000779 condensed chromosome, centromeric region GO:0000793 condensed chromosome GO:0000794 condensed nuclear chromosome GO:0008278 cohesin complex GO:0008280 cohesin core heterodimer GO:0030893 meiotic cohesin complex GO:0098687 chromosomal region

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04110 Cell cycle hsa04114 Oocyte meiosis
Reactome	R-HSA-1640170: Cell Cycle R-HSA-69278: Cell Cycle, Mitotic R-HSA-2470946: Cohesin Loading onto Chromatin R-HSA-2468052: Establishment of Sister Chromatid Cohesion R-HSA-68886: M Phase R-HSA-1500620: Meiosis R-HSA-1221632: Meiotic synapsis R-HSA-392499: Metabolism of proteins R-HSA-68882: Mitotic Anaphase R-HSA-2555396: Mitotic Metaphase and Anaphase R-HSA-68877: Mitotic Prometaphase R-HSA-68884: Mitotic Telophase/Cytokinesis R-HSA-597592: Post-translational protein modification R-HSA-2500257: Resolution of Sister Chromatid Cohesion R-HSA-69242: S Phase R-HSA-3108232: SUMO E3 ligases SUMOylate target proteins R-HSA-2990846: SUMOylation R-HSA-3108214: SUMOylation of DNA damage response and repair proteins R-HSA-2467813: Separation of Sister Chromatids

> KEGG and Reactome Pathway

[ TOP ]

KEGG

hsa04110 Cell cycle
hsa04114 Oocyte meiosis

Reactome

R-HSA-1640170: Cell Cycle
R-HSA-69278: Cell Cycle, Mitotic
R-HSA-2470946: Cohesin Loading onto Chromatin
R-HSA-2468052: Establishment of Sister Chromatid Cohesion
R-HSA-68886: M Phase
R-HSA-1500620: Meiosis
R-HSA-1221632: Meiotic synapsis
R-HSA-392499: Metabolism of proteins
R-HSA-68882: Mitotic Anaphase
R-HSA-2555396: Mitotic Metaphase and Anaphase
R-HSA-68877: Mitotic Prometaphase
R-HSA-68884: Mitotic Telophase/Cytokinesis
R-HSA-597592: Post-translational protein modification
R-HSA-2500257: Resolution of Sister Chromatid Cohesion
R-HSA-69242: S Phase
R-HSA-3108232: SUMO E3 ligases SUMOylate target proteins
R-HSA-2990846: SUMOylation
R-HSA-3108214: SUMOylation of DNA damage response and repair proteins
R-HSA-2467813: Separation of Sister Chromatids

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM2968175	c.2114C>T	p.A705V	Substitution - Missense	Large_intestine
COSM4728367	c.2240G>A	p.R747H	Substitution - Missense	Large_intestine
COSM756936	c.953C>T	p.S318F	Substitution - Missense	Lung
COSM1468558	c.563G>A	p.R188H	Substitution - Missense	Upper_aerodigestive_tract
COSM1756620	c.907G>A	p.E303K	Substitution - Missense	Urinary_tract
COSM3726763	c.1434C>T	p.N478N	Substitution - coding silent	Lung
COSM1123035	c.1756C>T	p.R586W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2968193	c.986G>A	p.R329H	Substitution - Missense	Kidney
COSM1293027	c.2750C>A	p.T917N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1123033	c.1910A>G	p.K637R	Substitution - Missense	Endometrium
COSM1319427	c.1757G>A	p.R586Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5064757	c.629A>C	p.Q210P	Substitution - Missense	Stomach
COSM1288094	c.3556G>C	p.V1186L	Substitution - Missense	Autonomic_ganglia
COSM1319427	c.1757G>A	p.R586Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3713960	c.3196C>T	p.R1066C	Substitution - Missense	Upper_aerodigestive_tract
COSM1123035	c.1756C>T	p.R586W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1331802	c.3429C>A	p.A1143A	Substitution - coding silent	Ovary
COSM5621872	c.1781T>C	p.V594A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5563869	c.1939C>G	p.Q647E	Substitution - Missense	Prostate
COSM4154980	c.2059G>T	p.E687*	Substitution - Nonsense	Kidney
COSM5630441	c.1306G>C	p.E436Q	Substitution - Missense	Oesophagus
COSM1190558	c.2470G>C	p.E824Q	Substitution - Missense	Lung
COSM5029668	c.3410C>A	p.A1137D	Substitution - Missense	Bone
COSM166805	c.2456T>A	p.I819N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1123027	c.2924G>A	p.R975Q	Substitution - Missense	Endometrium
COSM1316519	c.809T>G	p.L270R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3845021	c.2795C>A	p.A932D	Substitution - Missense	Breast
COSM3390707	c.2317G>A	p.E773K	Substitution - Missense	Pancreas
COSM1226804	c.3449C>T	p.A1150V	Substitution - Missense	Large_intestine
COSM76530	c.1877G>A	p.R626H	Substitution - Missense	Large_intestine
COSM5472892	c.2272C>T	p.R758*	Substitution - Nonsense	Large_intestine
COSM3733438	c.2400G>T	p.Q800H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3562337	c.1461C>T	p.A487A	Substitution - coding silent	Skin
COSM4769624	c.567G>C	p.K189N	Substitution - Missense	Biliary_tract
COSM1123023	c.3592G>A	p.E1198K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5424162	c.3391G>A	p.G1131R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4728364	c.3334A>G	p.N1112D	Substitution - Missense	Large_intestine
COSM1266248	c.2801A>G	p.K934R	Substitution - Missense	Oesophagus
COSM1468559	c.562C>T	p.R188C	Substitution - Missense	Large_intestine
COSM4820946	c.2404G>A	p.E802K	Substitution - Missense	Cervix
COSM4728366	c.2695G>A	p.G899R	Substitution - Missense	Large_intestine
COSM3562336	c.2956C>T	p.L986L	Substitution - coding silent	Skin
COSM1636568	c.3298C>G	p.P1100A	Substitution - Missense	Liver
COSM5989293	c.577G>C	p.A193P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3406469	c.3263T>C	p.L1088P	Substitution - Missense	Central_nervous_system
COSM2968177	c.2028G>T	p.E676D	Substitution - Missense	Large_intestine
COSM1266249	c.793G>C	p.E265Q	Substitution - Missense	Stomach
COSM1315588	c.1069G>A	p.E357K	Substitution - Missense	Urinary_tract
COSM3748784	c.1235G>A	p.R412Q	Substitution - Missense	Stomach
COSM1123023	c.3592G>A	p.E1198K	Substitution - Missense	Endometrium
COSM1682624	c.2559A>C	p.K853N	Substitution - Missense	Large_intestine
COSM5017210	c.2819T>G	p.L940W	Substitution - Missense	Kidney
COSM1123023	c.3592G>A	p.E1198K	Substitution - Missense	Pituitary
COSM5772194	c.2359C>T	p.R787C	Substitution - Missense	Breast
COSM1468548	c.3178G>A	p.E1060K	Substitution - Missense	Large_intestine
COSM315440	c.2563-1G>A	p.?	Unknown	Soft_tissue
COSM5569689	c.84C>T	p.T28T	Substitution - coding silent	Prostate
COSM4110130	c.459T>C	p.A153A	Substitution - coding silent	Stomach
COSM5424162	c.3391G>A	p.G1131R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3992537	c.495G>C	p.A165A	Substitution - coding silent	Kidney
COSM3406471	c.1180G>A	p.E394K	Substitution - Missense	Central_nervous_system
COSM1319426	c.287G>A	p.R96H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4110126	c.1549G>A	p.G517S	Substitution - Missense	Stomach
COSM5569685	c.83C>A	p.T28N	Substitution - Missense	Prostate
COSM4453631	c.3248A>G	p.E1083G	Substitution - Missense	Skin
COSM166191	c.1018_1020delATG	p.M340delM	Deletion - In frame	Breast
COSM1331801	c.2106G>C	p.Q702H	Substitution - Missense	Ovary
COSM5977521	c.3247G>A	p.E1083K	Substitution - Missense	Skin
COSM1123026	c.3058A>G	p.I1020V	Substitution - Missense	Endometrium
COSM3562340	c.686A>C	p.Y229S	Substitution - Missense	Skin
COSM4389362	c.2796C>G	p.A932A	Substitution - coding silent	Pancreas
COSM216212	c.2369G>A	p.R790Q	Substitution - Missense	Central_nervous_system
COSM1123024	c.3556G>A	p.V1186I	Substitution - Missense	Endometrium
COSM5757549	c.615+1G>A	p.?	Unknown	Large_intestine
COSM488470	c.2463G>A	p.L821L	Substitution - coding silent	Kidney
COSM457734	c.1881C>T	p.R627R	Substitution - coding silent	Breast
COSM1123025	c.3299C>A	p.P1100H	Substitution - Missense	Endometrium
COSM76529	c.2684G>A	p.R895H	Substitution - Missense	Ovary
COSM5021014	c.2197-5T>C	p.?	Unknown	Soft_tissue
COSM488471	c.2313G>C	p.Q771H	Substitution - Missense	Kidney
COSM1757274	c.1592A>T	p.Q531L	Substitution - Missense	Urinary_tract
COSM5618282	c.1045G>C	p.E349Q	Substitution - Missense	Breast
COSM2968175	c.2114C>T	p.A705V	Substitution - Missense	Large_intestine
COSM4110128	c.1211A>G	p.Q404R	Substitution - Missense	Stomach
COSM292465	c.1300C>T	p.R434W	Substitution - Missense	Large_intestine
COSM1468558	c.563G>A	p.R188H	Substitution - Missense	Large_intestine
COSM1468558	c.563G>A	p.R188H	Substitution - Missense	Large_intestine
COSM5573732	c.855-2A>G	p.?	Unknown	Prostate
COSM1195963	c.3084G>A	p.M1028I	Substitution - Missense	Lung
COSM1123035	c.1756C>T	p.R586W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM216212	c.2369G>A	p.R790Q	Substitution - Missense	Central_nervous_system
COSM1757274	c.1592A>T	p.Q531L	Substitution - Missense	Urinary_tract
COSM1468552	c.1525C>T	p.R509C	Substitution - Missense	Large_intestine
COSM5835986	c.1012_1014delAAG	p.K338delK	Deletion - In frame	Breast
COSM1757273	c.2266C>T	p.Q756*	Substitution - Nonsense	Urinary_tract
COSM1319427	c.1757G>A	p.R586Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM457731	c.2595G>T	p.E865D	Substitution - Missense	Breast
COSM1714991	c.3268C>T	p.R1090C	Substitution - Missense	Skin
COSM5977521	c.3247G>A	p.E1083K	Substitution - Missense	Upper_aerodigestive_tract
COSM4110129	c.650T>A	p.V217E	Substitution - Missense	Stomach
COSM3733439	c.2398C>G	p.Q800E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4601855	c.421G>C	p.E141Q	Substitution - Missense	Upper_aerodigestive_tract
COSM4110125	c.2517G>A	p.E839E	Substitution - coding silent	Stomach
COSM1123040	c.552T>G	p.F184L	Substitution - Missense	Endometrium
COSM1123032	c.1990C>T	p.R664W	Substitution - Missense	Biliary_tract
COSM5553886	c.2879A>G	p.E960G	Substitution - Missense	Prostate
COSM1123031	c.2095C>T	p.R699C	Substitution - Missense	Endometrium
COSM3713960	c.3196C>T	p.R1066C	Substitution - Missense	Upper_aerodigestive_tract
COSM191481	c.1057C>T	p.R353W	Substitution - Missense	Endometrium
COSM5879961	c.2629C>A	p.H877N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1123030	c.2131C>T	p.R711W	Substitution - Missense	Large_intestine
COSM5426852	c.1477G>A	p.E493K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM164473	c.249C>T	p.V83V	Substitution - coding silent	Breast
COSM3845020	c.2796C>T	p.A932A	Substitution - coding silent	Breast
COSM5013753	c.1169C>T	p.A390V	Substitution - Missense	Kidney
COSM5956930	c.3437+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3406470	c.1913C>A	p.T638K	Substitution - Missense	Central_nervous_system
COSM756935	c.495G>A	p.A165A	Substitution - coding silent	Lung
COSM292465	c.1300C>T	p.R434W	Substitution - Missense	Large_intestine
COSM1123041	c.533C>T	p.A178V	Substitution - Missense	Large_intestine
COSM4937503	c.3257A>T	p.K1086M	Substitution - Missense	Liver
COSM4110124	c.2561A>G	p.K854R	Substitution - Missense	Stomach
COSM6005108	c.747C>T	p.I249I	Substitution - coding silent	Prostate
COSM1123030	c.2131C>T	p.R711W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1319429	c.2563G>T	p.E855*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1319426	c.287G>A	p.R96H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1331800	c.746T>C	p.I249T	Substitution - Missense	Ovary
COSM1319427	c.1757G>A	p.R586Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5956932	c.2561A>T	p.K854M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1123035	c.1756C>T	p.R586W	Substitution - Missense	Endometrium
COSM1123034	c.1904G>A	p.R635H	Substitution - Missense	Endometrium
COSM1123038	c.1107G>T	p.E369D	Substitution - Missense	Endometrium
COSM1319426	c.287G>A	p.R96H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3694639	c.586C>T	p.R196C	Substitution - Missense	Large_intestine
COSM4842939	c.1154G>C	p.R385T	Substitution - Missense	Cervix
COSM4589480	c.421G>A	p.E141K	Substitution - Missense	Bone
COSM216212	c.2369G>A	p.R790Q	Substitution - Missense	Central_nervous_system
COSM1756620	c.907G>A	p.E303K	Substitution - Missense	Urinary_tract
COSM1756619	c.1254+1G>A	p.?	Unknown	Urinary_tract
COSM5879963	c.2420G>A	p.R807H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762940	c.1301G>A	p.R434Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2968200	c.386A>G	p.K129R	Substitution - Missense	Large_intestine
COSM1123035	c.1756C>T	p.R586W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1123028	c.2538A>G	p.E846E	Substitution - coding silent	Endometrium
COSM1714992	c.2870C>T	p.S957F	Substitution - Missense	Skin
COSM1319427	c.1757G>A	p.R586Q	Substitution - Missense	Kidney
COSM1319428	c.2447G>A	p.R816H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1756619	c.1254+1G>A	p.?	Unknown	Urinary_tract
COSM5879959	c.3341A>G	p.N1114S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879960	c.3339C>A	p.Y1113*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2968163	c.3055C>T	p.R1019C	Substitution - Missense	Stomach
COSM457735	c.884G>A	p.R295Q	Substitution - Missense	Breast
COSM1123037	c.1216C>T	p.R406C	Substitution - Missense	Endometrium
COSM3845022	c.2714T>A	p.M905K	Substitution - Missense	Breast
COSM4882128	c.1572G>T	p.Q524H	Substitution - Missense	Upper_aerodigestive_tract
COSM5757549	c.615+1G>A	p.?	Unknown	Large_intestine
COSM1491083	c.1414G>T	p.E472*	Substitution - Nonsense	Breast
COSM216212	c.2369G>A	p.R790Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3713960	c.3196C>T	p.R1066C	Substitution - Missense	Large_intestine
COSM1319427	c.1757G>A	p.R586Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3780514	c.2705A>G	p.N902S	Substitution - Missense	Pancreas
COSM1123043	c.101A>G	p.N34S	Substitution - Missense	Endometrium
COSM2968168	c.2700C>T	p.G900G	Substitution - coding silent	Prostate
COSM1468550	c.1941G>T	p.Q647H	Substitution - Missense	Large_intestine
COSM82377	c.1329C>G	p.T443T	Substitution - coding silent	Ovary
COSM3992536	c.3461T>A	p.V1154D	Substitution - Missense	Kidney
COSM3406472	c.914C>A	p.T305N	Substitution - Missense	Central_nervous_system
COSM1468558	c.563G>A	p.R188H	Substitution - Missense	Large_intestine
COSM5013752	c.2645C>A	p.S882*	Substitution - Nonsense	Kidney
COSM76531	c.1744G>T	p.D582Y	Substitution - Missense	Ovary
COSM457733	c.2275G>C	p.E759Q	Substitution - Missense	Breast
COSM5947981	c.3178G>T	p.E1060*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3562338	c.1344C>T	p.S448S	Substitution - coding silent	Skin
COSM5682318	c.3072delC	p.N1024fs*2	Deletion - Frameshift	Soft_tissue
COSM5682319	c.2980delC	p.Q994fs*10	Deletion - Frameshift	Soft_tissue
COSM292890	c.2132G>T	p.R711L	Substitution - Missense	Large_intestine
COSM3845018	c.3393G>A	p.G1131G	Substitution - coding silent	Breast
COSM2968179	c.1880G>A	p.R627H	Substitution - Missense	Large_intestine
COSM1497258	c.1167G>A	p.L389L	Substitution - coding silent	Kidney
COSM3965369	c.3152G>T	p.R1051L	Substitution - Missense	Lung
COSM2968185	c.1277G>A	p.R426Q	Substitution - Missense	Stomach
COSM141638	c.544A>G	p.T182A	Substitution - Missense	Upper_aerodigestive_tract
COSM1167506	c.1990delC	p.R664fs*8	Deletion - Frameshift	Skin
COSM1319426	c.287G>A	p.R96H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3845023	c.2390T>G	p.V797G	Substitution - Missense	Breast
COSM3682140	c.363A>T	p.L121F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1319426	c.287G>A	p.R96H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1180100	c.2096G>A	p.R699H	Substitution - Missense	Prostate
COSM5588983	c.1343C>T	p.S448F	Substitution - Missense	Skin
COSM1645010	c.2446C>G	p.R816G	Substitution - Missense	Salivary_gland
COSM1315587	c.1444G>T	p.E482*	Substitution - Nonsense	Urinary_tract
COSM5475349	c.3390C>T	p.G1130G	Substitution - coding silent	Large_intestine
COSM1123036	c.1548C>T	p.Y516Y	Substitution - coding silent	Endometrium
COSM367573	c.232G>A	p.A78T	Substitution - Missense	Lung
COSM756937	c.1025C>T	p.S342L	Substitution - Missense	Lung
COSM5412843	c.1534C>T	p.P512S	Substitution - Missense	Skin
COSM3364051	c.1524G>A	p.K508K	Substitution - coding silent	Kidney
COSM5517537	c.801G>T	p.K267N	Substitution - Missense	Biliary_tract
COSM1468553	c.1472G>A	p.R491H	Substitution - Missense	Large_intestine
COSM1123042	c.169C>T	p.R57W	Substitution - Missense	Endometrium
COSM1319427	c.1757G>A	p.R586Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3390707	c.2317G>A	p.E773K	Substitution - Missense	Pancreas
COSM1315586	c.1463G>A	p.R488H	Substitution - Missense	Urinary_tract
COSM3733395	c.2911A>G	p.S971G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879962	c.2420+3A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM462206	c.3609C>G	p.V1203V	Substitution - coding silent	Cervix
COSM72739	c.1535C>A	p.P512H	Substitution - Missense	Ovary
COSM1123035	c.1756C>T	p.R586W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1123030	c.2131C>T	p.R711W	Substitution - Missense	Endometrium
COSM76529	c.2684G>A	p.R895H	Substitution - Missense	Large_intestine
COSM3406473	c.854+1G>A	p.?	Unknown	Central_nervous_system
COSM2968167	c.2701G>A	p.A901T	Substitution - Missense	Liver
COSM5666902	c.1609delG	p.V537fs*42	Deletion - Frameshift	Soft_tissue
COSM126321	c.104G>T	p.G35V	Substitution - Missense	Upper_aerodigestive_tract
COSM1123029	c.2368C>T	p.R790W	Substitution - Missense	Endometrium
COSM76530	c.1877G>A	p.R626H	Substitution - Missense	Ovary
COSM87968	c.1295A>C	p.Q432P	Substitution - Missense	Central_nervous_system
COSM4832459	c.731C>G	p.S244*	Substitution - Nonsense	Cervix
COSM488472	c.761A>G	p.K254R	Substitution - Missense	Kidney
COSM1757273	c.2266C>T	p.Q756*	Substitution - Nonsense	Urinary_tract
COSM4110127	c.1486C>T	p.R496C	Substitution - Missense	Stomach
COSM3845019	c.3270C>T	p.R1090R	Substitution - coding silent	Breast
COSM1682624	c.2559A>C	p.K853N	Substitution - Missense	Large_intestine
COSM3424854	c.1162A>G	p.T388A	Substitution - Missense	Large_intestine
COSM4728368	c.2239C>T	p.R747C	Substitution - Missense	Large_intestine
COSM4618925	c.3316C>T	p.P1106S	Substitution - Missense	Large_intestine
COSM1226805	c.1526G>A	p.R509H	Substitution - Missense	Large_intestine
COSM166805	c.2456T>A	p.I819N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM216212	c.2369G>A	p.R790Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5835985	c.1885_1886insA	p.A629fs*30	Insertion - Frameshift	Breast
COSM4432423	c.1935A>T	p.L645L	Substitution - coding silent	Oesophagus
COSM3562339	c.1145C>G	p.A382G	Substitution - Missense	Skin
COSM1123030	c.2131C>T	p.R711W	Substitution - Missense	Large_intestine
COSM4808648	c.2109T>G	p.S703S	Substitution - coding silent	Pancreas
COSM216212	c.2369G>A	p.R790Q	Substitution - Missense	Central_nervous_system
COSM5642141	c.1405C>T	p.R469C	Substitution - Missense	Oesophagus
COSM3379652	c.1377G>A	p.L459L	Substitution - coding silent	Pancreas
COSM1123039	c.578C>T	p.A193V	Substitution - Missense	Endometrium
COSM1123041	c.533C>T	p.A178V	Substitution - Missense	Endometrium
COSM315440	c.2563-1G>A	p.?	Unknown	Lung
COSM4829739	c.2382A>C	p.E794D	Substitution - Missense	Cervix
COSM5762941	c.674T>G	p.L225R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5885054	c.229C>T	p.R77W	Substitution - Missense	Large_intestine
COSM4728365	c.2878_2879insG	p.E960fs*21	Insertion - Frameshift	Large_intestine
COSM270197	c.1276C>T	p.R426W	Substitution - Missense	Large_intestine
COSM1319426	c.287G>A	p.R96H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3694638	c.991G>T	p.G331C	Substitution - Missense	Large_intestine
COSM1123032	c.1990C>T	p.R664W	Substitution - Missense	Endometrium
COSM166805	c.2456T>A	p.I819N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM457736	c.868G>C	p.E290Q	Substitution - Missense	Breast
COSM1123022	c.3598C>A	p.L1200I	Substitution - Missense	Endometrium
COSM5961890	c.1702G>A	p.E568K	Substitution - Missense	Breast

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
26886259	mutation (loss of function)	Acute Promyelocytic Leukemia with PML-RARA	After prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11) with a strong potential of being involved in APL pathogenesis.
26637483	mutation	Colorectal Carcinoma	SMC1A gene mutations have been reported in colorectal cancer.
25080505	mutation	Colorectal Carcinoma	In addition, we sequenced the SMC1A gene in colorectal carcinomas and we found only one mutation.
23955599	mutation	Myeloid Neoplasm	Here we report recurrent mutations and deletions involving multiple components of the cohesin complex, including STAG2, RAD21, SMC1A and SMC3, in different myeloid neoplasms.

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q14683	360	S	Phosphoserine	-	No	None detected
Q14683	648	K	N6-acetyllysine	-	No	None detected
Q14683	713	K	N6-acetyllysine	-	No	None detected
Q14683	957	S	Phosphoserine	ATM	No	None detected
Q14683	962	S	Phosphoserine	-	No	None detected
Q14683	966	S	Phosphoserine	ATM and ATR	No	None detected
Q14683	970	S	Phosphoserine	-	No	None detected
Q14683	1037	K	N6-acetyllysine	-	No	None detected

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.491	6.705	0.043	0.825	NS
BRCA	Breast invasive carcinoma	112	1100	6.921	7.258	0.404	8.72e-11	NS
CESC	Cervical and endocervical cancers	3	306	6.772	7.689	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	7.047	7.306	0.386	0.000113	NS
ESCA	Esophageal carcinoma	11	185	6.995	7.315	0.338	0.0854	NS
GBM	Glioblastoma multiforme	5	166	5.951	6.576	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.699	6.915	0.256	0.0209	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.888	6.611	-0.295	3.88e-06	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.648	6.236	-0.373	0.000277	NS
LAML	Acute Myeloid Leukemia	0	173	NA	8.033	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.818	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	5.895	5.895	0.072	0.523	NS
LUAD	Lung adenocarcinoma	59	517	6.715	6.806	0.154	0.0804	NS
LUSC	Lung squamous cell carcinoma	51	501	6.59	7.13	0.553	5.84e-11	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.848	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.449	6.335	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	6.125	6.287	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.587	6.345	-0.186	0.00607	NS
READ	Rectum adenocarcinoma	10	167	7.219	7.348	0.329	0.128	NS
SARC	Sarcoma	2	263	6.166	7.044	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.693	7.112	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.755	7.248	0.607	4.17e-09	Over
TGCT	Testicular Germ Cell Tumors	0	156	NA	7.472	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.61	6.296	-0.311	3.4e-06	NS
THYM	Thymoma	2	120	7.816	6.909	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.715	6.804	0.12	0.29	NS

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	18.7
Adrenal gland	15.5
Appendix	40
Bone marrow	20.2
Breast	21.9
Cerebral cortex	20.9
Cervix, uterine	21.6
Colon	20.8
Duodenum	18.9
Endometrium	35.7
Epididymis	9.7
Esophagus	21.4
Fallopian tube	28.1
Gallbladder	21.8
Heart muscle	10.6
Kidney	17.7
Liver	9.7
Lung	24.9
Lymph node	43.6
Ovary	25.5
Pancreas	3.2
Parathyroid gland	51.8
Placenta	26.8
Prostate	21.9
Rectum	21
Salivary gland	6.3
Seminal vesicle	18.4
Skeletal muscle	5.2
Skin	21.6
Small intestine	18.2
Smooth muscle	34.5
Spleen	28.9
Stomach	14.9
Testis	15.5
Thyroid gland	30.7
Tonsil	28.4
Urinary bladder	16.5

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
27667360	overexpression	Prostate Carcinoma	In the present study, we found that SMC1A was elevated in androgen-independent PCa cell lines PC-3 and DU-145 compared to androgen sensitive LNCap and 22RV1 cells by qPCR and western blot assay. Additionally, we also found that the expression of SMC1A gene was higher in prostate cancer tissues than in the adjacent normal tissues by immunohistochemical staining, and was positively correlated to tumor metastasis and recurrence by Oncomine database mining.
26781859	overexpression	Triple-Negative Breast Carcinoma	In the present study, we found that SMC1 expression in TNBC tissues exceeded its expression in adjacent non-tumor tissues.
25884313	overexpression	Colorectal Carcinoma	The expression of SMC1A was much stronger in CRC tumor tissues than in adenomas and normal colorectal tissues.
25038613	overexpression	Liver and Intrahepatic Bile Duct Carcinoma	Gene expression analysis of clinical samples demonstrated increased expression of Hec1/NDC80 and associated genes (Nek2, SMC1A, and SMC2) in 27 % of patients, highlighting the potential for using this therapeutic approach to target patients with high Hec1 expression.
23717600	overexpression	Triple-Negative Breast Carcinoma	Taken together, these studies report for the first time that SMC1 is overexpressed in TNBC cells where it plays a role in cell migration and drug sensitivity, and thus provides a potential therapeutic target for this highly invasive breast cancer subtype.
23638217	overexpression	Glioma	We found that SMC1A was expressed at abnormally high levels in human glioma tissue and in cultured U251 glioma cells.
20514443	underexpression	Acute Myeloid Leukemia	On the protein level, expression of SMC1A was low or absent in 74 out of 116 acute myeloid leukemia specimens.
27667360	Overexpression	Prostate Carcinoma	Additionally, we also found that the expression of SMC1A gene was higher in prostate cancer tissues than in the adjacent normal tissues by immunohistochemical staining, and was positively correlated to tumor metastasis and recurrence by Oncomine database mining.

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.245	6.45e-07	19.3	64.6	16.1	Neutral
BRCA	Breast invasive carcinoma	1075	0.214	1.27e-12	16.4	66.2	17.4	Neutral
CESC	Cervical and endocervical cancers	292	0.166	0.00449	24.7	63	12.3	Neutral
COAD	Colon adenocarcinoma	449	0.219	2.94e-06	14.5	69	16.5	Neutral
ESCA	Esophageal carcinoma	183	0.273	0.000189	34.4	50.8	14.8	Loss
GBM	Glioblastoma multiforme	147	-0.053	0.525	23.1	73.5	3.4	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.295	8.85e-12	27	63.4	9.5	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.12	0.00589	9.3	85.3	5.3	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	-0.162	0.00592	11.1	55.9	33	Neutral
LAML	Acute Myeloid Leukemia	166	0.164	0.035	3	95.8	1.2	Neutral
LGG	Brain Lower Grade Glioma	513	0.09	0.0413	18.1	76	5.8	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.049	0.35	26.9	61.5	11.5	Neutral
LUAD	Lung adenocarcinoma	512	0.283	6.86e-11	18.6	69.7	11.7	Neutral
LUSC	Lung squamous cell carcinoma	498	0.314	7.12e-13	26.5	59.2	14.3	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.352	3.62e-10	42.3	29.7	28	Loss
PAAD	Pancreatic adenocarcinoma	177	0.282	0.000147	15.8	80.2	4	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.261	0.000794	27.8	67.3	4.9	Neutral
PRAD	Prostate adenocarcinoma	491	0.027	0.548	6.5	90.6	2.9	Neutral
READ	Rectum adenocarcinoma	164	0.264	0.000637	18.3	64.6	17.1	Neutral
SARC	Sarcoma	255	0.284	3.91e-06	18.4	43.5	38	Gain
SKCM	Skin Cutaneous Melanoma	367	0.091	0.082	22.6	61.9	15.5	Neutral
STAD	Stomach adenocarcinoma	413	0.234	1.56e-06	14.8	72.6	12.6	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.16	0.051	19.3	63.3	17.3	Neutral
THCA	Thyroid carcinoma	497	-0.004	0.926	1	97.6	1.4	Neutral
THYM	Thymoma	119	0.228	0.0126	5.9	92.4	1.7	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.151	0.000463	11.5	72.4	16	Neutral

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.095	0.05	17	408	-0.002	0.312	NS/NA
BRCA	Breast invasive carcinoma	-0.229	9.35e-12	83	785	-0.002	0.848	NS/NA
CESC	Cervical and endocervical cancers	-0.321	9.16e-09	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.347	3.13e-10	19	297	-0.002	0.786	NS/NA
ESCA	Esophageal carcinoma	-0.398	1.21e-08	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.359	0.00346	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.246	7.37e-09	20	522	0.003	0.000879	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.115	0.0334	24	319	0.004	3.83e-05	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.375	2.88e-11	23	275	0.005	0.000188	NS/NA
LAML	Acute Myeloid Leukemia	-0.337	7.95e-06	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.145	0.000791	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.304	3.25e-10	41	373	-0.002	0.31	NS/NA
LUAD	Lung adenocarcinoma	-0.149	0.00106	21	456	-0.013	0.0161	NS/NA
LUSC	Lung squamous cell carcinoma	-0.183	0.000361	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.85	0.00607	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.16	0.0309	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.149	0.0419	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.03	0.487	35	498	0.002	0.00753	NS/NA
READ	Rectum adenocarcinoma	-0.371	0.000148	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.386	1.23e-10	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.239	1.59e-07	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.33	8.57e-11	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.233	0.00346	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.182	1.53e-05	50	509	-0.004	0.196	NS/NA
THYM	Thymoma	-0.424	1.47e-06	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.153	0.000926	34	431	-0.004	0.353	NS/NA

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	3	High
Appendix	2	Medium
Bone marrow	3	High
Breast	3	High
Bronchus	3	High
Caudate	2	Medium
Cerebellum	2	Medium
Cerebral cortex	2	Medium
Cervix, uterine	2	Medium
Colon	3	High
Duodenum	2	Medium
Endometrium	2	Medium
Epididymis	2	Medium
Esophagus	2	Medium
Fallopian tube	2	Medium
Gallbladder	3	High
Heart muscle	2	Medium
Hippocampus	3	High
Kidney	3	High
Liver	0	Not detected
Lung	2	Medium
Lymph node	2	Medium
Oral mucosa	3	High
Ovary	2	Medium
Pancreas	3	High
Parathyroid gland	3	High
Placenta	3	High
Prostate	2	Medium
Rectum	3	High
Salivary gland	3	High
Seminal vesicle	2	Medium
Skeletal muscle	2	Medium
Skin	2	Medium
Small intestine	3	High
Smooth muscle	1	Low
Soft tissue	2	Medium
Spleen	1	Low
Stomach	3	High
Testis	2	Medium
Thyroid gland	3	High
Tonsil	3	High
Urinary bladder	3	High
Vagina	3	High

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.0134	Significant	24476821
BRCA	Breast invasive carcinoma	521	6.68e-20	Significant	23000897
COAD	Colon adenocarcinoma	149	0.07	NS	22810696
GBM	Glioblastoma multiforme	157	0.0488	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.00113	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.0155	Significant	26536169
LGG	Brain Lower Grade Glioma	513	0.000403	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.145	NS	25079552
LUSC	Lung squamous cell carcinoma	178	0.000681	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.00624	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.014	Significant	26544944
READ	Rectum adenocarcinoma	67	0.1	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.669	NS	26091043
STAD	Stomach adenocarcinoma	277	5.84e-09	Significant	25079317
THCA	Thyroid carcinoma	391	0.276	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	7.43e-08	Significant	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	1.388	0.122	NS
BRCA	Breast invasive carcinoma	1079	1.287	0.257	NS
CESC	Cervical and endocervical cancers	291	0.802	0.496	NS
COAD	Colon adenocarcinoma	439	0.685	0.227	NS
ESCA	Esophageal carcinoma	184	1.311	0.379	NS
GBM	Glioblastoma multiforme	158	0.871	0.584	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.914	0.651	NS
KIRC	Kidney renal clear cell carcinoma	531	0.639	0.0325	Longer
KIRP	Kidney renal papillary cell carcinoma	287	1.844	0.191	NS
LAML	Acute Myeloid Leukemia	149	1.108	0.724	NS
LGG	Brain Lower Grade Glioma	511	1.219	0.409	NS
LIHC	Liver hepatocellular carcinoma	365	1.364	0.21	NS
LUAD	Lung adenocarcinoma	502	1.345	0.146	NS
LUSC	Lung squamous cell carcinoma	494	0.766	0.18	NS
OV	Ovarian serous cystadenocarcinoma	303	1.123	0.57	NS
PAAD	Pancreatic adenocarcinoma	177	1.118	0.676	NS
PCPG	Pheochromocytoma and Paraganglioma	179	2.023	0.557	NS
PRAD	Prostate adenocarcinoma	497	3.873	0.307	NS
READ	Rectum adenocarcinoma	159	0.712	0.516	NS
SARC	Sarcoma	259	1.444	0.219	NS
SKCM	Skin Cutaneous Melanoma	459	1.267	0.226	NS
STAD	Stomach adenocarcinoma	388	0.637	0.0469	Longer
TGCT	Testicular Germ Cell Tumors	134	0	0.292	NS
THCA	Thyroid carcinoma	500	0.598	0.497	NS
THYM	Thymoma	119	0.115	0.0292	Longer
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.29	0.428	NS

> Stage

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Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	0.075	0.129	NS
BRCA	Breast invasive carcinoma	1071	0.049	0.112	NS
CESC	Cervical and endocervical cancers	167	0.01	0.9	NS
COAD	Colon adenocarcinoma	445	-0.042	0.379	NS
ESCA	Esophageal carcinoma	162	-0.038	0.632	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.051	0.28	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.043	0.327	NS
KIRP	Kidney renal papillary cell carcinoma	260	0.105	0.092	NS
LIHC	Liver hepatocellular carcinoma	347	0.123	0.0214	Higher
LUAD	Lung adenocarcinoma	507	0.065	0.143	NS
LUSC	Lung squamous cell carcinoma	497	0.044	0.331	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.028	0.627	NS
PAAD	Pancreatic adenocarcinoma	176	-0.051	0.506	NS
READ	Rectum adenocarcinoma	156	0.044	0.587	NS
SKCM	Skin Cutaneous Melanoma	410	-0.062	0.208	NS
STAD	Stomach adenocarcinoma	392	-0.037	0.471	NS
TGCT	Testicular Germ Cell Tumors	81	0.172	0.124	NS
THCA	Thyroid carcinoma	499	-0.082	0.0676	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.073	0.105	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.094	0.12	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.084	0.0606	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.067	0.126	NS
LGG	Brain Lower Grade Glioma	514	0.041	0.358	NS
LIHC	Liver hepatocellular carcinoma	366	0.04	0.444	NS
OV	Ovarian serous cystadenocarcinoma	296	0.112	0.0541	NS
PAAD	Pancreatic adenocarcinoma	176	-0.063	0.407	NS
STAD	Stomach adenocarcinoma	406	-0.081	0.102	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.282	3.42e-11	Higher

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for SMC1A.

Summary
Symbol	SMC1A
Name	structural maintenance of chromosomes 1A
Aliases	DXS423E; KIAA0178; SB1.8; Smcb; SMC1L1; SMC1 structural maintenance of chromosomes 1-like 1 (yeast); CDLS2; ......
Location	Xp11.22
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
26781859	Triple-Negative Breast Carcinoma	partner	SAVA	positive correlation	The results showed that the high expression of SMC1 often promoted EMT, accompanied by the enhanced expression of Brachyury. Besides, upregulated expression of Brachyury through plasmid transfection also significantly improved the level of EMT, which further indicated that SMC1 increased EMT in TNBC through the induction of Brachyury expression.