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NXN nucleoredoxin [ Homo sapiens (human) ]

Gene ID: 64359, updated on 11-Apr-2024

Summary

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Official Symbol
NXNprovided by HGNC
Official Full Name
nucleoredoxinprovided by HGNC
Primary source
HGNC:HGNC:18008
See related
Ensembl:ENSG00000167693 MIM:612895; AllianceGenome:HGNC:18008
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
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Genomic context

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Location:
17p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (799310..979776, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (685572..866169, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (702550..883016, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11440 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:685572-686120 Neighboring gene gem nuclear organelle associated protein 4 Neighboring gene Sharpr-MPRA regulatory region 8532 Neighboring gene diazepam binding inhibitor-like 5, pseudogene Neighboring gene glyoxalase domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:736782-737522 Neighboring gene mitochondrial rRNA methyltransferase 3 Neighboring gene Sharpr-MPRA regulatory region 9814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:746053-747038 Neighboring gene uncharacterized LOC124903894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:753668-754242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:754898-755398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:773909-774736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:790499-790998 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:800010-801209 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:801761-802401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:802905-803406 Neighboring gene Sharpr-MPRA regulatory region 13189 Neighboring gene uncharacterized LOC101927727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:821769-822286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:827078-827634 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:827635-828190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:830369-831259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:849438-850330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:850331-851222 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:853008-853900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:858382-858882 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:858973-859201 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:865783-866755 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:867917-868670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:868671-869424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:875671-876172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:876173-876672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:881929-882864 Neighboring gene Sharpr-MPRA regulatory region 9475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:891083-891953 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:900391-901082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:908184-908942 Neighboring gene uncharacterized LOC105371481 Neighboring gene translocase of inner mitochondrial membrane 22 Neighboring gene ABR activator of RhoGEF and GTPase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. NXN Gene Epigenetic Changes in an Adult Neurogenesis Model of Alzheimer's Disease. Blanco-Luquin I, et al. Cells, 2022 Mar 22. PMID 35406633, Free PMC Article
  2. Nucleoredoxin, a novel thioredoxin family member involved in cell growth and differentiation. Funato Y, et al. Antioxid Redox Signal, 2007 Aug. PMID 17567240
  3. Nucleoredoxin, glutaredoxin, and thioredoxin differentially regulate NF-kappaB, AP-1, and CREB activation in HEK293 cells. Hirota K, et al. Biochem Biophys Res Commun, 2000 Jul 21. PMID 10903915
  4. NXN suppresses metastasis of hepatocellular carcinoma by promoting degradation of Snail through binding to DUB3. Zhang Y, et al. Cell Death Dis, 2022 Aug 4. PMID 35927236, Free PMC Article
  5. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Zhang C, et al. Am J Med Genet A, 2021 Dec. PMID 33048444, Free PMC Article

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NXN suppresses metastasis of hepatocellular carcinoma by promoting degradation of Snail through binding to DUB3.
    Title: NXN suppresses metastasis of hepatocellular carcinoma by promoting degradation of Snail through binding to DUB3.
  2. NXN Gene Epigenetic Changes in an Adult Neurogenesis Model of Alzheimer's Disease.
    Title: NXN Gene Epigenetic Changes in an Adult Neurogenesis Model of Alzheimer's Disease.
  3. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
    Title: Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
  4. identified nucleoredoxin as an interaction partner of Sec63; characterized this interaction; Sec63 is linked to the Wnt signaling pathways and this interaction may be the reason why mutations in SEC63 can lead to polycystic liver disease
    Title: An interaction between human Sec63 and nucleoredoxin may provide the missing link between the SEC63 gene and polycystic liver disease.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort.
  6. Nucleoredoxin is a novel thioredoxin family member involved in cell growth and differentiation [review]
    Title: Nucleoredoxin, a novel thioredoxin family member involved in cell growth and differentiation.
Submit: New GeneRIF Correction

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
Robinow syndrome, autosomal recessive 2
MedGen: C5193143 OMIM: 618529 GeneReviews: Not available
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables thioredoxin-disulfide reductase (NADPH) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
  
involved_in circulatory system development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
nucleoredoxin
Names
nucleoredoxin 1
NP_001192248.1
NP_071908.2
XP_005256813.1
XP_005256815.1
XP_016880438.1
XP_047292488.1
XP_054172885.1
XP_054172886.1
XP_054172887.1
XP_054172888.1

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_001205319.1 → NP_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:68 → 199
    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:204 → 319
    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:8 → 57
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

  2. NM_022463.5 → NP_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
    B4DXQ0, D3DTH2, Q3SWW6, Q6DKJ4, Q6P3U6, Q7L4C6, Q9H9Q1
    Related
    ENSP00000337443.3, ENST00000336868.8
    Conserved Domains (3) summary
    cd03009
    Location:176 → 307
    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:312 → 427
    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:11 → 165
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

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

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005256756.5 → XP_005256813.1  nucleoredoxin isoform X1

    Conserved Domains (1) summary
    cl00388
    Location:274 → 367
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

  2. XM_005256758.4 → XP_005256815.1  nucleoredoxin isoform X2

    Conserved Domains (3) summary
    cd03009
    Location:63 → 194
    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:199 → 314
    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:3 → 52
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

  3. XM_047436532.1 → XP_047292488.1  nucleoredoxin isoform X4

    Related
    ENSP00000461562.1, ENST00000571684.5

  4. XM_017024949.2 → XP_016880438.1  nucleoredoxin isoform X3

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187613.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187664.1 Reference GRCh38.p14 ALT_REF_LOCI_2

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    685572..866169 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316910.1 → XP_054172885.1  nucleoredoxin isoform X1

  2. XM_054316911.1 → XP_054172886.1  nucleoredoxin isoform X2

  3. XM_054316913.1 → XP_054172888.1  nucleoredoxin isoform X4

  4. XM_054316912.1 → XP_054172887.1  nucleoredoxin isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6DKJ4.2 GenPept UniProtKB/Swiss-Prot:Q6DKJ4

Gene LinkOut

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