Entity Details

Primary name ZN513_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N8E2
EntryNameZN513_HUMAN
FullNameZinc finger protein 513
TaxID9606
Evidenceevidence at protein level
Length541
SequenceStatuscomplete
DateCreated2004-11-23
DateModified2021-06-02

Ontological Relatives

GenesZNF513

GO terms

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GOName
GO:0000976 transcription cis-regulatory region binding
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0007601 visual perception
GO:0010468 regulation of gene expression
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0050896 response to stimulus
GO:0060041 retina development in camera-type eye

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613617 OMIMRetinitis pigmentosa 58 (RP58)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.

Interactions

7 interactions