NRL

Protein identityUniProt · HPA

UniProt accession

P54845

Gene

NRL

Ensembl

ENSG00000129535

Chromosome

14

Canonical length

237 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

237 residues, UniProt reviewed canonical sequence.

>P54845|NRL
     1  MALPPSPLAM EYVNDFDLMK FEVKREPSEG RPGPPTASLG STPYSSVPPS PTFSEPGMVG
    61  ATEGTRPGLE ELYWLATLQQ QLGAGEALGL SPEEAMELLQ GQGPVPVDGP HGYYPGSPEE
   121  TGAQHVQLAE RFSDAALVSM SVRELNRQLR GCGRDEALRL KQRRRTLKNR GYAQACRSKR
   181  LQQRRGLEAE RARLAAQLDA LRAEVARLAR ERDLYKARCD RLTSSGPGSG DPSHLFL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NRL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.58

Highest tissue expression

294 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NRL.

Disease | AllUniProt

Conditions NRL is implicated in, by any mechanism.

• Retinitis pigmentosa 27 (RP27) MIM:613750
• Retinal degeneration autosomal recessive clumped pigment type (RDCP) MIM:613750

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 243 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinitis pigmentosa 27
• Retinal dystrophy
• Enhanced S-cone syndrome 2
• Retinitis pigmentosa
• Retinitis pigmentosa 40

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.1

gnomAD pLI

0.05

gnomAD missense Z

0.61

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of gene expression
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• retinal rod cell development
• visual perception

Molecular functions

• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• leucine zipper domain binding
• promoter-specific chromatin binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• cytoplasm
• cytosol
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Basic leucine zipper domain, Maf-type
• Basic-leucine zipper domain
• Transcription factor, Skn-1-like, DNA-binding domain superfamily
• Maf transcription factor, N-terminal
• Transcription factor Maf family
• Basic-leucine zipper domain superfamily
• bZIP Maf transcription factor
• Maf N-terminal region

KeywordsUniProt

• Activator
• Cytoplasm
• Developmental protein
• DNA-binding
• Isopeptide bond
• Nucleus
• Retinitis pigmentosa
• Sensory transduction
• Transcription
• Transcription regulation
• Ubl conjugation
• Vision

InteractionsUniProt · HPA

Protein binding partners of NRL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FIZ1