Entity Details

Primary name NRL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP54845
EntryNameNRL_HUMAN
FullNameNeural retina-specific leucine zipper protein
TaxID9606
Evidenceevidence at protein level
Length237
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesNRL

GO terms

Show/Hide Table
GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007601 visual perception
GO:0010628 positive regulation of gene expression
GO:0043522 leucine zipper domain binding
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046548 retinal rod cell development
GO:0050896 response to stimulus
GO:1990837 sequence-specific double-stranded DNA binding
GO:1990841 promoter-specific chromatin binding

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR004826 Basic leucine zipper domain, Maf-typeDomainDomain
IPR004827 Basic-leucine zipper domainDomainDomain
IPR008917 Transcription factor, Skn-1-like, DNA-binding domain superfamilyFamilyHomologous superfamily
IPR013592 Maf transcription factor, N-terminalDomainDomain
IPR024874 Transcription factor Maf familyFamilyFamily
IPR028575 Neural retina-specific leucine zipper proteinFamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
613750 OMIMRetinitis pigmentosa 27 (RP27)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.
613750 OMIMRetinitis pigmentosa 27 (RP27)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.