InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NRL

Summary

InnateDB Protein

IDBP-236308.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NRL

Protein Name

neural retina leucine zipper

Synonyms

D14S46E; NRL-MAF; RP27;

Species

Homo sapiens

Ensembl Protein

ENSP00000380193

InnateDB Gene

IDBG-3479 (NRL)

Protein Structure

UniProt Annotation

Function

Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B. {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Retinitis pigmentosa 27 (RP27) [MIM:613750]: 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. {ECO:0000269PubMed:10192380, ECO:0000269PubMed:22334370}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:162080]: A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short-wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present. {ECO:0000269PubMed:15591106}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Neural retina.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043522	leucine zipper domain binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007468	regulation of rhodopsin gene expression
GO:0007601	visual perception
GO:0050896	response to stimulus

Cellular Component

GO:0005634

nucleus

Protein Structure and Domains

PDB ID

InterPro

IPR004826 Basic leucine zipper domain, Maf-type
IPR004827 Basic-leucine zipper domain
IPR008917 Transcription factor, Skn-1-like, DNA-binding domain
IPR013592 Maf transcription factor, N-terminal

PFAM

PF03131
PF00170
PF07716
PF08383

PRINTS

PIRSF

SMART

SM00338

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P54845