• Gene id: 4901

Gene Summary

• Gene Symbol: NRL   Gene   UCSC   Ensembl
• Aliases: D14S46E, NRL-MAF, RP27
• Gene name: neural retina leucine zipper
• Alternate names: neural retina-specific leucine zipper protein, neural retinal-specific leucine zipper,
• Gene location: 14q11.2-q12 (24114948: 24078661)     Exons: 7     NC_000014.9
• Gene summary(Entrez): 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 as
• OMIM: 618041

Protein Summary

• Protein general information: P54845  
  • Name: Neural retina specific leucine zipper protein (NRL)
  • Length: 237  
  • Mass: 25940
  • Tissue specificity: Expressed in the brain and the retina (PubMed
• Sequence:

  MALPPSPLAMEYVNDFDLMKFEVKREPSEGRPGPPTASLGSTPYSSVPPSPTFSEPGMVGATEGTRPGLEELYWL
  ATLQQQLGAGEALGLSPEEAMELLQGQGPVPVDGPHGYYPGSPEETGAQHVQLAERFSDAALVSMSVRELNRQLR
  GCGRDEALRLKQRRRTLKNRGYAQACRSKRLQQRRGLEAERARLAAQLDALRAEVARLARERDLYKARCDRLTSS
  GPGSGDPSHLFL

• Structural information:
  • Protein Domains: (159..22-)
    (/note="bZIP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00978"-)
  • Interpro: IPR004827  IPR004826  IPR013592  IPR028575  IPR008917   IPR024874  
  • Prosite: PS50217
  • STRING: ENSP00000454062
• Other Databases: GeneCards:  NRL  Malacards:  NRL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0046548	retinal rod cell development	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0007468	regulation of rhodopsin gene expression	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0043522	leucine zipper domain binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007468	regulation of rhodopsin gene expression	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0046548	retinal rod cell development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0007468	regulation of rhodopsin gene expression	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045872	positive regulation of rhodopsin gene expression	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:0046548	retinal rod cell development	IEA	biological process
GO:0007468	regulation of rhodopsin gene expression	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	PMID:11879142
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881