Family

Neural retina-specific leucine zipper protein (IPR028575)

Short name: Nrl

Family relationships

Description

Maf transcription factors form a distinct family of the basic leucine zipper (bZip) transcription factors. The Maf family is divided into two subclasses, large Mafs (c-maf, mafB, and mafA/L-maf, Nrl) and small Mafs (MafF, MafK and MafG). Both subclasses contain leucine-zipper motifs, which allow homodimerisation as well as heterodimerisation with a variety of other bZip proteins. In contrast to the small Mafs, the large Maf proteins contain a transactivator domain in their amino terminus.

Neural retina-specific leucine zipper protein (Nrl) is a member of the Maf family of transcription factors that regulates the expression of rod-specific genes, including rhodopsin [PMID: 11694879, PMID: 20551322, PMID: 22445942]. Mutations in Nrl cause retinitis pigmentosa 27 (RP27), which is a retinal dystrophy belonging to the group of pigmentary retinopathies [PMID: 10192380, PMID: 22334370], and retinal degeneration autosomal recessive clumped pigment type (RDCP), which is a retinopathy characterised by night blindness since early childhood, consistent with a severe reduction in rod function [PMID: 15591106].

GO terms

Biological Process

GO:0007468 regulation of rhodopsin gene expression
GO:0046548 retinal rod cell development

Molecular Function

GO:0003700 transcription factor activity, sequence-specific DNA binding

Cellular Component

GO:0005634 nucleus

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER