Entity Details

Primary name AVIL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75366
EntryNameAVIL_HUMAN
FullNameAdvillin
TaxID9606
Evidenceevidence at protein level
Length819
SequenceStatuscomplete
DateCreated2001-06-20
DateModified2021-06-02

Ontological Relatives

GenesAVIL

GO terms

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GOName
GO:0003779 actin binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005737 cytoplasm
GO:0005884 actin filament
GO:0005925 focal adhesion
GO:0007015 actin filament organization
GO:0007399 nervous system development
GO:0008154 actin polymerization or depolymerization
GO:0010592 positive regulation of lamellipodium assembly
GO:0010976 positive regulation of neuron projection development
GO:0015629 actin cytoskeleton
GO:0030027 lamellipodium
GO:0030424 axon
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0051014 actin filament severing
GO:0051015 actin filament binding
GO:0051016 barbed-end actin filament capping
GO:0060271 cilium assembly
GO:0071933 Arp2/3 complex binding
GO:1900480 regulation of diacylglycerol biosynthetic process

Subcellular Location

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Subcellular Location
Cell junction
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR003128 Villin headpieceDomainDomain
IPR007122 Villin/GelsolinFamilyFamily
IPR007123 Gelsolin-like domainDomainDomain
IPR029006 ADF-H/Gelsolin-like domain superfamilyFamilyHomologous superfamily
IPR036180 Gelsolin-like domain superfamilyFamilyHomologous superfamily
IPR036886 Villin headpiece domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618594 OMIMNephrotic syndrome 21 (NPHS21)A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS21 is an autosomal recessive, rapidly progressive, steroid-resistant form characterized by onset of kidney dysfunction in the first year of life. Some patients may have variable extra-renal manifestations. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
AVIL_HUMANCRK_HUMANBioGRID, HPRD11287316 details