Entity Details

Primary name K1549_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9HCM3
EntryNameK1549_HUMAN
FullNameUPF0606 protein KIAA1549
TaxID9606
Evidenceevidence at protein level
Length1950
SequenceStatuscomplete
DateCreated2008-07-01
DateModified2021-06-02

Ontological Relatives

GenesKIAA1549

GO terms

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GOName
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0032391 photoreceptor connecting cilium

Subcellular Location

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Subcellular Location
Cell projection
Membrane

Domains

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DomainNameCategoryType
IPR024606 Protein of unknown function DUF3827FamilyFamily

Diseases

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Disease IDSourceNameDescription
618613 OMIMRetinitis pigmentosa 86 (RP86)A form of retinitis pigmentosa, 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. RP86 is an autosomal recessive form. The disease is caused by variants affecting the gene represented in this entry.