Entity Details

Primary name KANK1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14678
EntryNameKANK1_HUMAN
FullNameKN motif and ankyrin repeat domain-containing protein 1
TaxID9606
Evidenceevidence at protein level
Length1352
SequenceStatuscomplete
DateCreated2003-08-29
DateModified2021-06-02

Ontological Relatives

GenesKANK1

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0008013 beta-catenin binding
GO:0008283 cell population proliferation
GO:0010977 negative regulation of neuron projection development
GO:0030036 actin cytoskeleton organization
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030336 negative regulation of cell migration
GO:0030837 negative regulation of actin filament polymerization
GO:0032587 ruffle membrane
GO:0035023 regulation of Rho protein signal transduction
GO:0035024 negative regulation of Rho protein signal transduction
GO:0046627 negative regulation of insulin receptor signaling pathway
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:0090303 positive regulation of wound healing
GO:0090521 glomerular visceral epithelial cell migration
GO:1900025 negative regulation of substrate adhesion-dependent cell spreading
GO:1900028 negative regulation of ruffle assembly
GO:2000114 regulation of establishment of cell polarity
GO:2000393 negative regulation of lamellipodium morphogenesis

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR002110 Ankyrin repeatRepeatRepeat
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR021939 Kank N-terminal motifSiteConserved site
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612900 OMIMCerebral palsy, spastic quadriplegic 2 (CPSQ2)A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly. The disease is caused by variants affecting the gene represented in this entry.