TISIDB

Summary
Symbol	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
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	Cell membrane Cell projection, ruffle membrane Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Note=Membrane ruffles, especially at the tip of ruffles, of motile cells.
Domain	PF06345 DRF Autoregulatory Domain PF06346 Formin Homology Region 1 PF06367 Diaphanous FH3 Domain PF06371 Diaphanous GTPase-binding Domain PF02181 Formin Homology 2 Domain
Function	Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755).

> Gene Ontology [ TOP ]
Biological Process	GO:0006816 calcium ion transport GO:0006874 cellular calcium ion homeostasis GO:0006875 cellular metal ion homeostasis GO:0007015 actin filament organization GO:0007204 positive regulation of cytosolic calcium ion concentration GO:0007605 sensory perception of sound GO:0008154 actin polymerization or depolymerization GO:0008360 regulation of cell shape GO:0010522 regulation of calcium ion transport into cytosol GO:0010959 regulation of metal ion transport GO:0022604 regulation of cell morphogenesis GO:0030041 actin filament polymerization GO:0030335 positive regulation of cell migration GO:0032844 regulation of homeostatic process GO:0032845 negative regulation of homeostatic process GO:0032886 regulation of microtubule-based process GO:0034762 regulation of transmembrane transport GO:0034765 regulation of ion transmembrane transport GO:0034776 response to histamine GO:0035372 protein localization to microtubule GO:0040017 positive regulation of locomotion GO:0044380 protein localization to cytoskeleton GO:0050954 sensory perception of mechanical stimulus GO:0051208 sequestering of calcium ion GO:0051209 release of sequestered calcium ion into cytosol GO:0051235 maintenance of location GO:0051238 sequestering of metal ion GO:0051258 protein polymerization GO:0051272 positive regulation of cellular component movement GO:0051279 regulation of release of sequestered calcium ion into cytosol GO:0051282 regulation of sequestering of calcium ion GO:0051283 negative regulation of sequestering of calcium ion GO:0051480 regulation of cytosolic calcium ion concentration GO:0051924 regulation of calcium ion transport GO:0055074 calcium ion homeostasis GO:0060401 cytosolic calcium ion transport GO:0060402 calcium ion transport into cytosol GO:0070509 calcium ion import GO:0070588 calcium ion transmembrane transport GO:0070838 divalent metal ion transport GO:0071407 cellular response to organic cyclic compound GO:0071417 cellular response to organonitrogen compound GO:0071420 cellular response to histamine GO:0072503 cellular divalent inorganic cation homeostasis GO:0072507 divalent inorganic cation homeostasis GO:0072511 divalent inorganic cation transport GO:0072698 protein localization to microtubule cytoskeleton GO:0090279 regulation of calcium ion import GO:0097553 calcium ion transmembrane import into cytosol GO:1902656 calcium ion import into cytosol GO:1903169 regulation of calcium ion transmembrane transport GO:1904062 regulation of cation transmembrane transport GO:2000021 regulation of ion homeostasis GO:2000147 positive regulation of cell motility
Molecular Function	GO:0003779 actin binding GO:0017016 Ras GTPase binding GO:0017048 Rho GTPase binding GO:0031267 small GTPase binding GO:0044325 ion channel binding GO:0051020 GTPase binding
Cellular Component	GO:0001726 ruffle GO:0005819 spindle GO:0031252 cell leading edge GO:0031253 cell projection membrane GO:0031256 leading edge membrane GO:0032587 ruffle membrane GO:0072686 mitotic spindle

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04510 Focal adhesion hsa04810 Regulation of actin cytoskeleton
Reactome	R-HSA-6785631: ERBB2 Regulates Cell Motility R-HSA-168256: Immune System R-HSA-168249: Innate Immune System R-HSA-6798695: Neutrophil degranulation R-HSA-195258: RHO GTPase Effectors R-HSA-5663220: RHO GTPases Activate Formins R-HSA-162582: Signal Transduction R-HSA-1227986: Signaling by ERBB2 R-HSA-194315: Signaling by Rho GTPases

Summary
Symbol	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between DIAPH1 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

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Literatures describing the relation between DIAPH1 and anti-tumor immunity in human cancer.

PMID	Cancer type	Relation to immunity	Evidence sentences
24891322	acute myeloid leukemia	Inhibit immunity	Mechanistically, mDia1 deficiency led to a downregulation of membrane-associated genes and a specific upregulation of CD14 messenger RNA in granulocytes, but not in other lineages.

Summary
Symbol	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
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 DIAPH1 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	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
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

[ TOP ]

Points in the above scatter plot represent the expression difference of DIAPH1 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	0.216	0.239
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.067	0.975
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	0.328	0.828
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0.344	0.223
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0.383	0.88
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0.298	0.929
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.556	0.184
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.443	0.816
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.686	0.748
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0	1
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	0.176	0.951
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	-0.096	0.117

> Mutation difference between responders and non-responders

[ TOP ]

Points in the above scatter plot represent the mutation difference of DIAPH1 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	0	5.9	-5.9	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	0	0	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	7.1	-7.1	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	3.7	1.4	2.3	0.469
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	3.7	1.7	2	0.532
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	4.8	0	4.8	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	0	0	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	7.7	0	7.7	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	2.6	0	2.6	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	4.5	0	4.5	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	0	1
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	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of DIAPH1. 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	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of DIAPH1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by DIAPH1. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of DIAPH1. 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	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of DIAPH1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between DIAPH1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	DIAPH1
Name	diaphanous-related formin 1
Aliases	hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location	5q31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting DIAPH1 collected from DrugBank database.

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

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