NRL neural retina leucine zipper [Homo sapiens (human)] - Gene

Summary

Official Symbol: NRLprovided by HGNC
Official Full Name: neural retina leucine zipperprovided by HGNC
Primary source: HGNC:HGNC:8002
See related: Ensembl:ENSG00000129535 MIM:162080; AllianceGenome:HGNC:8002
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RP27; D14S46E; NRL-MAF
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]
Expression: Ubiquitous expression in duodenum (RPKM 1.2), small intestine (RPKM 1.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2-q12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24078662..24114949, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18276978..18313262, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (24547871..24584158, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
Title: Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors.
Title: NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors.
Investigating cone photoreceptor development using patient-derived NRL null retinal organoids.
Title: Investigating cone photoreceptor development using patient-derived NRL null retinal organoids.
that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup
Title: NRL and CRX Define Photoreceptor Identity and Reveal Subgroup-Specific Dependencies in Medulloblastoma.
We identified a novel NRL mutation (c.147_149del, p.Ser50del) leading to adRP in a Chinese family with retinitis pigmenntosa.
Title: Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing.
investigated the prevalence of the NRL mutation among Bukhara Jews with oculopharyngeal muscular dystrophy (OPMD)
Title: Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.
This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype.
Title: Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family.
Title: Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
In another family a variant, p.M96T in the NRL gene was detected as a retinitis pigmentosa-causing mutation.
Title: Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
This novel p.M96T mutant activated the RHO promoter more intensely than did wild-type NRL in a family with autosomal dominant retinitis pigmentosa.
Title: Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 27 MedGen: C1834329 OMIM: 613750 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S46 (e-PCR)
- UniSTS:147264

RH1631 (e-PCR)
- UniSTS:42816

D14S46 (e-PCR)
- UniSTS:147265

D14S1329 (e-PCR)
- UniSTS:2976

SHGC-31124 (e-PCR)
- UniSTS:39902

PMC311069P9 (e-PCR)
- UniSTS:272890

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables leucine zipper domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables promoter-specific chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in retinal rod cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neural retina-specific leucine zipper protein

Names: Maf-family bZIP transcription factor NRL; neural retinal-specific leucine zipper

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011697.2 RefSeqGene

Range

5066..41353

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001354768.3 → NP_001341697.1 neural retina-specific leucine zipper protein isoform 1

Status: REVIEWED

Source sequence(s)

AL136295, BQ638162, HY106550

Consensus CDS

CCDS9608.1

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0

Related

ENSP00000454062.2, ENST00000561028.6

Conserved Domains (2) summary

cd14718
Location:154 → 223

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:67 → 101

Maf_N; Maf N-terminal region
NM_001354769.1 → NP_001341698.1 neural retina-specific leucine zipper protein isoform 1

Status: REVIEWED

Source sequence(s)

AL136295, BX161522

Consensus CDS

CCDS9608.1

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0

Related

ENSP00000380193.1, ENST00000396997.1

Conserved Domains (2) summary

cd14718
Location:154 → 223

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:67 → 101

Maf_N; Maf N-terminal region
NM_001354770.2 → NP_001341699.1 neural retina-specific leucine zipper protein isoform 2

Status: REVIEWED

Source sequence(s)

AL136295

Conserved Domains (1) summary

cd14718
Location:49 → 118

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
NM_006177.5 → NP_006168.1 neural retina-specific leucine zipper protein isoform 1

See identical proteins and their annotated locations for NP_006168.1

Status: REVIEWED

Source sequence(s)

AL136295, BC012395

Consensus CDS

CCDS9608.1

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0

Related

ENSP00000380197.2, ENST00000397002.6

Conserved Domains (2) summary

cd14718
Location:154 → 223

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:67 → 101

Maf_N; Maf N-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

24078662..24114949 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011536806.3 → XP_011535108.2 neural retina-specific leucine zipper protein isoform X3
XM_011536801.3 → XP_011535103.2 neural retina-specific leucine zipper protein isoform X1
XM_011536805.3 → XP_011535107.1 neural retina-specific leucine zipper protein isoform X2

See identical proteins and their annotated locations for XP_011535107.1

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0

Conserved Domains (2) summary

cd14718
Location:154 → 223

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:67 → 101

Maf_N; Maf N-terminal region

Reference GRCh38.p14 PATCHES

Genomic

NW_018654722.1 Reference GRCh38.p14 PATCHES

Range

379640..415927 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332343.1 → XP_054188318.1 neural retina-specific leucine zipper protein isoform X2

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0
XM_054332345.1 → XP_054188320.1 neural retina-specific leucine zipper protein isoform X3
XM_054332340.1 → XP_054188315.1 neural retina-specific leucine zipper protein isoform X1
XM_054332342.1 → XP_054188317.1 neural retina-specific leucine zipper protein isoform X2

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0
XM_054332344.1 → XP_054188319.1 neural retina-specific leucine zipper protein isoform X2

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0
XM_054332341.1 → XP_054188316.1 neural retina-specific leucine zipper protein isoform X2

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

18276978..18313262 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376150.1 → XP_054232125.1 neural retina-specific leucine zipper protein isoform X2

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0
XM_054376152.1 → XP_054232127.1 neural retina-specific leucine zipper protein isoform X3
XM_054376147.1 → XP_054232122.1 neural retina-specific leucine zipper protein isoform X1
XM_054376149.1 → XP_054232124.1 neural retina-specific leucine zipper protein isoform X2

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0
XM_054376151.1 → XP_054232126.1 neural retina-specific leucine zipper protein isoform X2

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0
XM_054376148.1 → XP_054232123.1 neural retina-specific leucine zipper protein isoform X2

UniProtKB/Swiss-Prot

A8MX14, P54845, Q53XD0