Entity Details

Primary name KDIS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9ULH0
EntryNameKDIS_HUMAN
FullNameKinase D-interacting substrate of 220 kDa
TaxID9606
Evidenceevidence at protein level
Length1771
SequenceStatuscomplete
DateCreated2008-02-26
DateModified2021-06-02

Ontological Relatives

GenesKIDINS220

GO terms

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GOName
GO:0000186 obsolete activation of MAPKK activity
GO:0001701 in utero embryonic development
GO:0005770 late endosome
GO:0005829 cytosol
GO:0010976 positive regulation of neuron projection development
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0019887 protein kinase regulator activity
GO:0030165 PDZ domain binding
GO:0032991 protein-containing complex
GO:0038180 nerve growth factor signaling pathway
GO:0048813 dendrite morphogenesis
GO:1990090 cellular response to nerve growth factor stimulus

Subcellular Location

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Subcellular Location
Late endosome
Membrane

Domains

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DomainNameCategoryType
IPR002110 Ankyrin repeatRepeatRepeat
IPR011646 KAP family P-loop domainDomainDomain
IPR013761 Sterile alpha motif/pointed domain superfamilyFamilyHomologous superfamily
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617296 OMIMSpastic paraplegia, intellectual disability, nystagmus, and obesity (SINO)An autosomal dominant syndrome characterized by rapid growth in infancy, obesity, global developmental delay, intellectual disability, spastic paraplegia, ocular defects, and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry.