Entity Details

Primary name INVS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y283
EntryNameINVS_HUMAN
FullNameInversin
TaxID9606
Evidenceevidence at protein level
Length1065
SequenceStatuscomplete
DateCreated2005-07-05
DateModified2021-06-02

Ontological Relatives

GenesINVS

GO terms

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GOName
GO:0005516 calmodulin binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005874 microtubule
GO:0005929 cilium
GO:0007275 multicellular organism development
GO:0016020 membrane
GO:0016055 Wnt signaling pathway
GO:0090090 negative regulation of canonical Wnt signaling pathway

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Membrane
Nucleus

Domains

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DomainNameCategoryType
IPR000048 IQ motif, EF-hand binding siteSiteBinding site
IPR002110 Ankyrin repeatRepeatRepeat
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
602088 OMIMNephronophthisis 2 (NPHP2)An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts. The disease is caused by variants affecting the gene represented in this entry.