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NXNL1 nucleoredoxin like 1 [ Homo sapiens (human) ]

Gene ID: 115861, updated on 25-Jan-2022

Summary

Official Symbol
NXNL1provided by HGNC
Official Full Name
nucleoredoxin like 1provided by HGNC
Primary source
HGNC:HGNC:25179
See related
Ensembl:ENSG00000171773 MIM:608791; AllianceGenome:HGNC:25179
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
RDCVF; TXNL6
Summary
Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]
Expression
Biased expression in fat (RPKM 1.0) and adrenal (RPKM 0.2) See more
Orthologs
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Genomic context

See NXNL1 in Genome Data Viewer
Location:
19p13.11
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17455425..17460926, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17566234..17571735, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene multivesicular body subunit 12A Neighboring gene high mobility group box 3 pseudogene 29 Neighboring gene transmembrane protein 221 Neighboring gene Sharpr-MPRA regulatory region 2801 Neighboring gene solute carrier family 27 member 1 Neighboring gene PGLS divergent transcript Neighboring gene 6-phosphogluconolactonase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nucleoredoxin-like protein 1
Names
rod-derived cone viability factor
thioredoxin-like 6
thioredoxin-like protein 6

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.

mRNA and Protein(s)

  1. NM_138454.2NP_612463.1  nucleoredoxin-like protein 1

    See identical proteins and their annotated locations for NP_612463.1

    Status: REVIEWED

    Source sequence(s)
    AC010319, BC014127
    Consensus CDS
    CCDS12360.1
    UniProtKB/Swiss-Prot
    Q96CM4
    Related
    ENSP00000305631.2, ENST00000301944.3
    Conserved Domains (1) summary
    cd03008
    Location:8153
    TryX_like_RdCVF; Tryparedoxin (TryX)-like family, Rod-derived cone viability factor (RdCVF) subfamily; RdCVF is a thioredoxin (TRX)-like protein specifically expressed in photoreceptors. RdCVF was isolated and identified as a factor that supports cone survival in retinal ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17455425..17460926 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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