Entity Details

Primary name AGGF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N302
EntryNameAGGF1_HUMAN
FullNameAngiogenic factor with G patch and FHA domains 1
TaxID9606
Evidenceevidence at protein level
Length714
SequenceStatuscomplete
DateCreated2004-03-15
DateModified2021-06-02

Ontological Relatives

GenesAGGF1

GO terms

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GOName
GO:0001525 angiogenesis
GO:0001570 vasculogenesis
GO:0001938 positive regulation of endothelial cell proliferation
GO:0003676 nucleic acid binding
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0007155 cell adhesion
GO:0045766 positive regulation of angiogenesis
GO:0048471 perinuclear region of cytoplasm

Subcellular Location

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Subcellular Location
Cytoplasm
Secreted

Domains

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DomainNameCategoryType
IPR000253 Forkhead-associated (FHA) domainDomainDomain
IPR000467 G-patch domainDomainDomain
IPR008984 SMAD/FHA domain superfamilyFamilyHomologous superfamily
IPR035624 AGGF1, OCRE domainDomainDomain
IPR041591 OCRE domainDomainDomain

Diseases

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Disease IDSourceNameDescription
149000 OMIMKlippel-Trenaunay syndrome (KTS)Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. The disease is caused by variants affecting the gene represented in this entry.