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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
    mouse all
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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
    		Compare labs

    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

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