Entity Details

Primary name DIAP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60610
EntryNameDIAP1_HUMAN
FullNameProtein diaphanous homolog 1
TaxID9606
Evidenceevidence at protein level
Length1272
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesDIAPH1

GO terms

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GOName
GO:0003723 RNA binding
GO:0003779 actin binding
GO:0005102 signaling receptor binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007010 cytoskeleton organization
GO:0007605 sensory perception of sound
GO:0008360 regulation of cell shape
GO:0030036 actin cytoskeleton organization
GO:0030041 actin filament polymerization
GO:0030667 secretory granule membrane
GO:0031267 small GTPase binding
GO:0032587 ruffle membrane
GO:0032886 regulation of microtubule-based process
GO:0035372 protein localization to microtubule
GO:0043312 neutrophil degranulation
GO:0044325 transmembrane transporter binding
GO:0051279 regulation of release of sequestered calcium ion into cytosol
GO:0051493 regulation of cytoskeleton organization
GO:0071420 cellular response to histamine
GO:0072686 mitotic spindle
GO:0101003 ficolin-1-rich granule membrane
GO:2000145 regulation of cell motility

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR010465 DRF autoregulatoryDomainDomain
IPR010472 Formin, FH3 domainDomainDomain
IPR010473 Formin, GTPase-binding domainDomainDomain
IPR011989 Armadillo-like helicalFamilyHomologous superfamily
IPR014767 Diaphanous autoregulatory (DAD) domainDomainDomain
IPR014768 Rho GTPase-binding/formin homology 3 (GBD/FH3) domainDomainDomain
IPR015425 Formin, FH2 domainDomainDomain
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR027653 Formin, protein diaphanous homologue 1FamilyFamily
IPR042201 Formin, FH2 domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
616632 OMIMSeizures, cortical blindness, and microcephaly syndrome (SCBMS)A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. The disease is caused by variants affecting the gene represented in this entry.
124900 OMIMDeafness, autosomal dominant 1, with or without thrombocytopenia (DFNA1)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. The disease is caused by variants affecting the gene represented in this entry.

Interactions

29 interactions

InteractorPartnerSourcesPublicationsLink
DIAP1_HUMANPR40A_HUMANBioGRID, HPRD, MINT15231748 16055720 details
DIAP1_HUMANGAS7_HUMANBioGRID, MINT16055720 details
DIAP1_HUMANWBP4_HUMANBioGRID, MINT16055720 details
DIAP1_HUMANPPM1F_HUMANMINT18230650 details
DIAP1_HUMANRHOA_HUMANBioGRID, HPRD, mbinfo12773565 15864301 16109481 18218625 details
DIAP1_HUMANDIAP1_HUMANmbinfo18218625 details
DIAP1_HUMANRHOB_HUMANBioGRID, mbinfo18218625 34079125 details
DIAP1_HUMANRHOC_HUMANBioGRID, HPRD, IntAct, mbinfo15864301 18218625 28514442 details
DIAP1_HUMANRHOD_HUMANBioGRID, IntAct, mbinfo18218625 26186194 28514442 details
DIAP1_HUMANRHOF_HUMANmbinfo18218625 details
DIAP1_HUMANRAGE_HUMANUniProt18922799 details
DIAP1_HUMANTCRG1_HUMANBioGRID16055720 details
DIAP1_HUMANCENPA_HUMANBioGRID, HPRD15085137 details
DIAP1_HUMANAPBB1_HUMANBioGRID16055720 details
DIAP1_HUMANNEDD4_HUMANBioGRID16055720 details
DIAP1_HUMANPTPRF_HUMANBioGRID25458010 details
DIAP1_HUMANCDC42_HUMANBioGRID31478661 details
DIAP1_HUMANBAIP2_HUMANHPRD10814512 details
DIAP1_HUMANPAX6_HUMANHPRD12324464 details
DIAP1_HUMANPKD2_HUMANbhf-ucl, HPRD, MINT15123714 18388856 details
DIAP1_HUMANCDC5L_HUMANBioGRID, IntAct, MINT20467437 31413325 details
DIAP1_HUMANIQGA1_HUMANBioGRID, mbinfo17620407 24639526 details
DIAP1_HUMANCLIP1_HUMANmbinfo19114595 details
DIAP1_HUMANDCAF7_HUMANBioGRID, IntAct16887337 27705803 28514442 details
DIAP1_HUMANH32_HUMANIntAct30021884 details
DIAP1_HUMANXPO6_HUMANBioGRID, HPRD14592989 details
DIAP1_HUMANSRGP2_HUMANBioGRID19041431 details
DIAP1_HUMANRAC1_HUMANHPRD11590143 details
DIAP1_HUMANCDC7_HUMANHPRD12065429 details