Entity Details

Primary name KIZ_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ2M2Z5
EntryNameKIZ_HUMAN
FullNameCentrosomal protein kizuna
TaxID9606
Evidenceevidence at protein level
Length673
SequenceStatuscomplete
DateCreated2007-09-11
DateModified2021-06-02

Ontological Relatives

GenesKIZ

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0007051 spindle organization
GO:0019901 protein kinase binding
GO:0042995 cell projection

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR026742 Centrosomal protein kizunaFamilyFamily

Diseases

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Disease IDSourceNameDescription
615780 OMIMRetinitis pigmentosa 69 (RP69)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.