TISIDB

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Associated with centrosomes and basal bodies at the base of primary cilia. Specifically locates to the proximal ends of centrioles and basal bodies. Colocalizes partially with NCAPD2 at these sites. During mitosis localizes to both spindle poles.
Domain	PF15309 ALMS motif
Function	Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.

> Gene Ontology [ TOP ]
Biological Process	GO:0000086 G2/M transition of mitotic cell cycle GO:0007015 actin filament organization GO:0007034 vacuolar transport GO:0010927 cellular component assembly involved in morphogenesis GO:0016197 endosomal transport GO:0030031 cell projection assembly GO:0030038 contractile actin filament bundle assembly GO:0031032 actomyosin structure organization GO:0032231 regulation of actin filament bundle assembly GO:0032956 regulation of actin cytoskeleton organization GO:0032970 regulation of actin filament-based process GO:0042384 cilium assembly GO:0043149 stress fiber assembly GO:0044770 cell cycle phase transition GO:0044772 mitotic cell cycle phase transition GO:0044782 cilium organization GO:0044839 cell cycle G2/M phase transition GO:0051017 actin filament bundle assembly GO:0051492 regulation of stress fiber assembly GO:0051493 regulation of cytoskeleton organization GO:0060271 cilium morphogenesis GO:0061572 actin filament bundle organization
Molecular Function	GO:0042805 actinin binding GO:0051393 alpha-actinin binding
Cellular Component	GO:0000922 spindle pole GO:0005813 centrosome GO:0005814 centriole GO:0005819 spindle GO:0005929 cilium GO:0031514 motile cilium GO:0044450 microtubule organizing center part

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-8854518: AURKA Activation by TPX2 R-HSA-5620912: Anchoring of the basal body to the plasma membrane R-HSA-1640170: Cell Cycle R-HSA-69278: Cell Cycle, Mitotic R-HSA-380287: Centrosome maturation R-HSA-5617833: Cilium Assembly R-HSA-69275: G2/M Transition R-HSA-380259: Loss of Nlp from mitotic centrosomes R-HSA-380284: Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-453274: Mitotic G2-G2/M phases R-HSA-1852241: Organelle biogenesis and maintenance R-HSA-380270: Recruitment of mitotic centrosome proteins and complexes R-HSA-2565942: Regulation of PLK1 Activity at G2/M Transition

> KEGG and Reactome Pathway

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KEGG

Reactome

R-HSA-8854518: AURKA Activation by TPX2
R-HSA-5620912: Anchoring of the basal body to the plasma membrane
R-HSA-1640170: Cell Cycle
R-HSA-69278: Cell Cycle, Mitotic
R-HSA-380287: Centrosome maturation
R-HSA-5617833: Cilium Assembly
R-HSA-69275: G2/M Transition
R-HSA-380259: Loss of Nlp from mitotic centrosomes
R-HSA-380284: Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-453274: Mitotic G2-G2/M phases
R-HSA-1852241: Organelle biogenesis and maintenance
R-HSA-380270: Recruitment of mitotic centrosome proteins and complexes
R-HSA-2565942: Regulation of PLK1 Activity at G2/M Transition

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between ALMS1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining [ TOP ]
There is no record.

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

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Statistical results of ALMS1 in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

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Points in the above scatter plot represent the expression difference of ALMS1 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	-0.234	0.176
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-0.257	0.618
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.219	0.607
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.03	0.932
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.247	0.928
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.379	0.913
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.374	0.242
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.148	0.912
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.631	0.671
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.997	0.364
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	1.606	0.303
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	0.033	0.596

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of ALMS1 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Mut/NRes	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	21.4	0	21.4	0.081
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	20	0	20	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	25	0	25	0.222
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	14.8	6.8	8	0.247
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	14.8	8.5	6.3	0.453
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	14.3	17.6	-3.3	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	12.5	16.7	-4.2	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	15.4	18.2	-2.8	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0	0	0	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	0	0	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	0	0	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	15.8	0	15.8	0.037
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	13.6	0	13.6	0.279
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	18.8	0	18.8	0.228
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	0	1

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of ALMS1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of ALMS1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by ALMS1. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of ALMS1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of ALMS1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between ALMS1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	ALMS1
Name	Alstrom syndrome protein 1
Aliases	KIAA0328; Alstrom syndrome 1; ALSS
Chromosomal Location	2p13.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting ALMS1 collected from DrugBank database.

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

Browse ALMS1