DIAPH1 (diaphanous related formin 1)

2007-02-01  

Identity

HGNC
LOCATION
5q31.3
LOCUSID
ALIAS
DFNA1,DIA1,DRF1,LFHL1,SCBMS,hDIA1
FUSION GENES

Other Information

Locus ID:

NCBI: 1729
MIM: 602121
HGNC: 2876
Ensembl: ENSG00000131504

Variants:

dbSNP: 1729
ClinVar: 1729
TCGA: ENSG00000131504
COSMIC: DIAPH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131504ENST00000253811H9KV28
ENSG00000131504ENST00000389054O60610
ENSG00000131504ENST00000389057A0A140T8Z0
ENSG00000131504ENST00000398557A0A0G2JH68
ENSG00000131504ENST00000448451H7C2W8
ENSG00000131504ENST00000468119H7C2W8
ENSG00000131504ENST00000518047O60610
ENSG00000131504ENST00000523100B4E2I7
ENSG00000131504ENST00000643312H7C2W8
ENSG00000131504ENST00000647330A0A2R8YEF8
ENSG00000131504ENST00000647433A0A2R8Y5N1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
Regulation of actin cytoskeletonKEGGko04810
Focal adhesionKEGGhsa04510
Regulation of actin cytoskeletonKEGGhsa04810
ShigellosisKEGGhsa05131
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by ERBB2REACTOMER-HSA-1227986
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
ERBB2 Regulates Cell MotilityREACTOMER-HSA-6785631
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191600182009Rho signaling, ROCK and mDia1, in transformation, metastasis and invasion.212
171828682006Mitf regulation of Dia1 controls melanoma proliferation and invasiveness.182
119921122002ROCK and Dia have opposing effects on adherens junctions downstream of Rho.153
181946502008Angiopoietin-1 prevents VEGF-induced endothelial permeability by sequestering Src through mDia.141
189227992008Interaction of the RAGE cytoplasmic domain with diaphanous-1 is required for ligand-stimulated cellular migration through activation of Rac1 and Cdc42.107
150965062004Role of RhoA, mDia, and ROCK in cell shape-dependent control of the Skp2-p27kip1 pathway and the G1/S transition.82
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
179400612007Mammalian diaphanous-related formin Dia1 controls the organization of E-cadherin-mediated cell-cell junctions.71
191582782009Regulation of cell-cell adhesion by Abi/Diaphanous complexes.49
189555522008Memo-RhoA-mDia1 signaling controls microtubules, the actin network, and adhesion site formation in migrating cells.48

Citation

Dessen P

DIAPH1 (diaphanous related formin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45842/diaph1