Entity Details

Primary name KRIT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO00522
EntryNameKRIT1_HUMAN
FullNameKrev interaction trapped protein 1
TaxID9606
Evidenceevidence at protein level
Length736
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesKRIT1

GO terms

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GOName
GO:0001525 angiogenesis
GO:0001937 negative regulation of endothelial cell proliferation
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0007264 small GTPase mediated signal transduction
GO:0008017 microtubule binding
GO:0010596 negative regulation of endothelial cell migration
GO:0016525 negative regulation of angiogenesis
GO:0030695 GTPase regulator activity
GO:0045454 cell redox homeostasis
GO:2000114 regulation of establishment of cell polarity
GO:2000352 negative regulation of endothelial cell apoptotic process

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR000299 FERM domainDomainDomain
IPR002110 Ankyrin repeatRepeatRepeat
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR014352 FERM/acyl-CoA-binding protein superfamilyFamilyHomologous superfamily
IPR019748 FERM central domainDomainDomain
IPR019749 Band 4.1 domainDomainDomain
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR032022 KRIT, N-terminal NPxY motif-rich regionDomainDomain
IPR035963 FERM superfamily, second domainFamilyHomologous superfamily
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily
IPR041791 Krev interaction trapped protein 1, FERM domain C-lobeDomainDomain
IPR043058 KRIT, N-terminal NPxY motif-rich domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
116860 OMIMCerebral cavernous malformations 1 (CCM1)A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. The disease is caused by variants affecting the gene represented in this entry.