Browse DIAPH1

Summary
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
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
 
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
 
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
 
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
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
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
 
  Literatures describing the relation between DIAPH1 and anti-tumor immunity in human cancer.
PMID Cancer type Relation to immunity Evidence sentences
24891322acute myeloid leukemiaInhibit immunityMechanistically, 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
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
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
  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
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
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
 
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 Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)14120.2160.239
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)650.0670.975
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)870.3280.828
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.3440.223
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.3830.88
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.2980.929
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.5560.184
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.4430.816
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.6860.748
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 4801
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.1760.951
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.0960.117
> Mutation difference between responders and non-responders
 
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 Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 141705.9-5.91
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 41407.1-7.11
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.71.42.30.469
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.71.720.532
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21174.804.81
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13117.707.71
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160001
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38272.602.61
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22134.504.51
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
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
 
Summary
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
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
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
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
 
> Receptor
 
Summary
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of DIAPH1 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between DIAPH1 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolDIAPH1
Namediaphanous-related formin 1
Aliases hDIA1; LFHL1; DFNA1; diaphanous (Drosophila, homolog) 1; diaphanous homolog 1 (Drosophila); Diaphanous-relat ......
Chromosomal Location5q31
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting DIAPH1 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.