Homo sapiens Gene: NRL
Summary
InnateDB Gene IDBG-3479.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NRL
Gene Name neural retina leucine zipper
Synonyms D14S46E; NRL-MAF; RP27
Species Homo sapiens
Ensembl Gene ENSG00000129535
Encoded Proteins
neural retina leucine zipper
neural retina leucine zipper
neural retina leucine zipper
neural retina leucine zipper
neural retina leucine zipper
neural retina leucine zipper
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:24080107-24115014
Strand Reverse strand
Band q12
Transcripts
ENST00000397002 ENSP00000380197
ENST00000396997 ENSP00000380193
ENST00000396995 ENSP00000380191
ENST00000561028 ENSP00000454062
ENST00000560550 ENSP00000452966
ENST00000558280 ENSP00000454180
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:0045872 positive regulation of rhodopsin gene expression
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046548 retinal rod cell development
GO:0050896 response to stimulus
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL A8MX14
UniProt Splice Variant
Entrez Gene 4901
UniGene Hs.652297
RefSeq NM_006177 XM_005267708 XM_005267709 XM_005267710
HUGO HGNC:8002
OMIM 162080
CCDS CCDS9608
HPRD 08875
IMGT
EMBL AB593101 AB593103 AB593105 AL136295
GenPept BAJ84041 BAJ84043 BAJ84045
RNA Seq Atlas 4901