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NXN nucleoredoxin [ Homo sapiens (human) ]

Gene ID: 64359, updated on 5-Jul-2020

Summary

Official Symbol
NXNprovided by HGNC
Official Full Name
nucleoredoxinprovided by HGNC
Primary source
HGNC:HGNC:18008
See related
Ensembl:ENSG00000167693 MIM:612895
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
NRX; RRS2; TRG-4
Summary
This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]
Expression
Ubiquitous expression in endometrium (RPKM 8.8), prostate (RPKM 6.7) and 24 other tissues See more
Orthologs

Genomic context

See NXN in Genome Data Viewer
Location:
17p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (799310..979776, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (702553..883017, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene gem nuclear organelle associated protein 4 Neighboring gene diazepam binding inhibitor-like 5, pseudogene Neighboring gene glyoxalase domain containing 4 Neighboring gene mitochondrial rRNA methyltransferase 3 Neighboring gene uncharacterized LOC101927727 Neighboring gene uncharacterized LOC112268190 Neighboring gene translocase of inner mitochondrial membrane 22 Neighboring gene ABR activator of RhoGEF and GTPase

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?

Phenotypes

Associated conditions

Description Tests
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2
MedGen: C5193143 OMIM: 618529 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
NHGRI GWA Catalog
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
NHGRI GWA Catalog
The genetic architecture of economic and political preferences.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein-disulfide reductase activity IEA
Inferred from Electronic Annotation
more info
 
thioredoxin-disulfide reductase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiovascular system development ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nucleoredoxin
Names
nucleoredoxin 1
NP_001192248.1
NP_071908.2
XP_005256813.1
XP_005256815.1
XP_016880438.1

NCBI Reference Sequences (RefSeq)

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_001205319.1NP_001192248.1  nucleoredoxin isoform 2

    See identical proteins and their annotated locations for NP_001192248.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC087392, BC009327
    Consensus CDS
    CCDS56013.1
    UniProtKB/Swiss-Prot
    Q6DKJ4
    Related
    ENSP00000461038.1, ENST00000575801.5
    Conserved Domains (3) summary
    cd03009
    Location:68199
    TryX_like_TryX_NRX; Tryparedoxin (TryX)-like family, TryX and nucleoredoxin (NRX) subfamily; TryX and NRX are thioredoxin (TRX)-like protein disulfide oxidoreductases that alter the redox state of target proteins via the reversible oxidation of an active center CXXC motif. ...
    cd03071
    Location:204319
    PDI_b'_NRX; PDIb' family, NRX subgroup, redox inactive TRX-like domain b'; composed of vertebrate nucleoredoxins (NRX). NRX is a 400-amino acid nuclear protein with one redox active TRX domain followed by one redox inactive TRX-like domain homologous to the b' ...
    cl00388
    Location:857
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  2. NM_022463.5NP_071908.2  nucleoredoxin isoform 1

    See identical proteins and their annotated locations for NP_071908.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC015884, AC087392, AW752727, BC063828, CX786695
    Consensus CDS
    CCDS10998.1
    UniProtKB/Swiss-Prot
    Q6DKJ4
    Related
    ENSP00000337443.3, ENST00000336868.8
    Conserved Domains (3) summary
    cd03009
    Location:176307
    TryX_like_TryX_NRX; Tryparedoxin (TryX)-like family, TryX and nucleoredoxin (NRX) subfamily; TryX and NRX are thioredoxin (TRX)-like protein disulfide oxidoreductases that alter the redox state of target proteins via the reversible oxidation of an active center CXXC motif. ...
    cd03071
    Location:312427
    PDI_b'_NRX; PDIb' family, NRX subgroup, redox inactive TRX-like domain b'; composed of vertebrate nucleoredoxins (NRX). NRX is a 400-amino acid nuclear protein with one redox active TRX domain followed by one redox inactive TRX-like domain homologous to the b' ...
    cl00388
    Location:11165
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    799310..979776 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256756.4XP_005256813.1  nucleoredoxin isoform X1

    Conserved Domains (1) summary
    cl00388
    Location:274367
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  2. XM_005256758.3XP_005256815.1  nucleoredoxin isoform X2

    Conserved Domains (3) summary
    cd03009
    Location:63194
    TryX_like_TryX_NRX; Tryparedoxin (TryX)-like family, TryX and nucleoredoxin (NRX) subfamily; TryX and NRX are thioredoxin (TRX)-like protein disulfide oxidoreductases that alter the redox state of target proteins via the reversible oxidation of an active center CXXC motif. ...
    cd03071
    Location:199314
    PDI_b'_NRX; PDIb' family, NRX subgroup, redox inactive TRX-like domain b'; composed of vertebrate nucleoredoxins (NRX). NRX is a 400-amino acid nuclear protein with one redox active TRX domain followed by one redox inactive TRX-like domain homologous to the b' ...
    cl00388
    Location:352
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  3. XM_017024949.1XP_016880438.1  nucleoredoxin isoform X3

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187613.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    3030..19023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187664.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3030..19023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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