Entity Details

Primary name RP9_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TA86
EntryNameRP9_HUMAN
FullNameRetinitis pigmentosa 9 protein
TaxID9606
Evidenceevidence at protein level
Length221
SequenceStatuscomplete
DateCreated2003-11-14
DateModified2021-06-02

Ontological Relatives

GenesRP9

GO terms

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GOName
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0008380 RNA splicing
GO:0046872 metal ion binding
GO:0050890 cognition

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR034585 Retinitis pigmentosa 9 proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
180104 OMIMRetinitis pigmentosa 9 (RP9)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.