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    NME9 NME/NM23 family member 9 [ Homo sapiens (human) ]

    Gene ID: 347736, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NME9provided by HGNC
    Official Full Name
    NME/NM23 family member 9provided by HGNC
    Primary source
    HGNC:HGNC:21343
    See related
    Ensembl:ENSG00000181322 MIM:618584; AllianceGenome:HGNC:21343
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NXL2; TXL2; TXL-2; TXNDC6; NM23-H9
    Summary
    Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in CTP biosynthetic process; GTP biosynthetic process; and UTP biosynthetic process. Predicted to be located in dynein axonemal particle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.1), brain (RPKM 1.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NME9 in Genome Data Viewer
    Location:
    3q22.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138261436..138329851, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141002003..141070404, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (137980278..138048693, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene alpha-1,4-N-acetylglucosaminyltransferase Neighboring gene OCT4 hESC enhancer GRCh37_chr3:137879291-137879792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20601 Neighboring gene debranching RNA lariats 1 Neighboring gene armadillo repeat containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20602 Neighboring gene uncharacterized LOC124909438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138066933-138067888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138078932-138079766 Neighboring gene MPRA-validated peak4844 silencer Neighboring gene muscle RAS oncogene homolog

    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 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. Thioredoxin-like protein 2b facilitates colon cancer cell proliferation and inhibits apoptosis via NF-κB pathway. Lu Y, et al. Cancer Lett, 2015 Jul 28. PMID 25555669
    2. The mammalian testis-specific thioredoxin system. Miranda-Vizuete A, et al. Antioxid Redox Signal, 2004 Feb. PMID 14713334
    3. Thioredoxin-like protein 2 is overexpressed in colon cancer and promotes cancer cell metastasis by interaction with ran. Lu Y, et al. Antioxid Redox Signal, 2013 Sep 20. PMID 23311631, Free PMC Article
    4. Proteomic analysis in lung tissue of smokers and COPD patients. Lee EJ, et al. Chest, 2009 Feb. PMID 18753468
    5. Characterization of human thioredoxin-like 2. A novel microtubule-binding thioredoxin expressed predominantly in the cilia of lung airway epithelium and spermatid manchette and axoneme. Sadek CM, et al. J Biol Chem, 2003 Apr 11. PMID 12569107, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are Expressed in Both Testicular and Systemic DLBCL and Correlate with Clinical Disease Presentation.
      Title: Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are Expressed in Both Testicular and Systemic DLBCL and Correlate with Clinical Disease Presentation.
    2. our results indicate that Txl-2b expression stimulates cancer cell proliferation, accelerates the cell cycle and contributes to apoptosis resistance in colon cancer and provides a potential therapeutic target for colon cancer treatment.
      Title: Thioredoxin-like protein 2b facilitates colon cancer cell proliferation and inhibits apoptosis via NF-κB pathway.
    3. Thioredoxin-like protein 2 is overexpressed in colon cancer and promotes cancer cell metastasis by interaction with ran.
      Title: Thioredoxin-like protein 2 is overexpressed in colon cancer and promotes cancer cell metastasis by interaction with ran.
    4. MMP-13 and thioredoxin-like 2 in lungs increased in patients with COPD. Thioredoxin-like 2 was primarily seen in the bronchial epithelium
      Title: Proteomic analysis in lung tissue of smokers and COPD patients.
    5. This protein is characterized. It is a microtubule-binding thioredoxin expressed predominantly in the cilia of lung airway epithelium and spermatid manchette and axoneme
      Title: Characterization of human thioredoxin-like 2. A novel microtubule-binding thioredoxin expressed predominantly in the cilia of lung airway epithelium and spermatid manchette and axoneme.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    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

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129586

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleoside diphosphate kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in CTP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GTP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UTP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    thioredoxin domain-containing protein 6
    Names
    NME gene family member 9
    thioredoxin-like protein 2

    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_001349018.2 → NP_001335947.1  thioredoxin domain-containing protein 6 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC022337
      Consensus CDS
      CCDS87142.1
      UniProtKB/Swiss-Prot
      Q7Z4A8, Q86XW9, Q8N1V7
      Related
      ENSP00000335444.3, ENST00000333911.9
      Conserved Domains (2) summary
      cd02948
      Location:11 → 112
      TRX_NDPK; TRX domain, TRX and NDP-kinase (NDPK) fusion protein family; most members of this group are fusion proteins which contain one redox active TRX domain containing a CXXC motif and three NDPK domains, and are characterized as intermediate chains (ICs) of ...
      cd04416
      Location:159 → 295
      NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...

    2. NM_001349020.2 → NP_001335949.1  thioredoxin domain-containing protein 6 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC022337
      Conserved Domains (2) summary
      cd04416
      Location:96 → 232
      NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
      cl00388
      Location:11 → 73
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    3. NM_001349021.2 → NP_001335950.1  thioredoxin domain-containing protein 6 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AC022337, AC068777
      Consensus CDS
      CCDS87141.1
      Related
      ENSP00000419882.1, ENST00000484930.5
      Conserved Domains (2) summary
      cd04416
      Location:96 → 232
      NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
      cl00388
      Location:11 → 73
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    4. NM_001349022.2 → NP_001335951.1  thioredoxin domain-containing protein 6 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AC022337
      Conserved Domains (2) summary
      cd04416
      Location:98 → 234
      NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
      cl00388
      Location:1 → 67
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    5. NM_001349023.2 → NP_001335952.1  thioredoxin domain-containing protein 6 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (f) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AC022337
      Conserved Domains (2) summary
      cd04416
      Location:69 → 205
      NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
      cl00388
      Location:1 → 38
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    6. NM_001349024.2 → NP_001335953.1  thioredoxin domain-containing protein 6 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (g) has the same N- and C-termini but is shorter compared to isoform a. Variants 7 and 8 both encode the same isoform (g).
      Source sequence(s)
      AC022337
      Conserved Domains (2) summary
      cd02948
      Location:11 → 89
      TRX_NDPK; TRX domain, TRX and NDP-kinase (NDPK) fusion protein family; most members of this group are fusion proteins which contain one redox active TRX domain containing a CXXC motif and three NDPK domains, and are characterized as intermediate chains (ICs) of ...
      cd04416
      Location:120 → 256
      NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...

    7. NM_001349025.2 → NP_001335954.1  thioredoxin domain-containing protein 6 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (g) has the same N- and C-termini but is shorter compared to isoform a. Variants 7 and 8 both encode the same isoform (g).
      Source sequence(s)
      AC022337
      Conserved Domains (2) summary
      cd02948
      Location:11 → 89
      TRX_NDPK; TRX domain, TRX and NDP-kinase (NDPK) fusion protein family; most members of this group are fusion proteins which contain one redox active TRX domain containing a CXXC motif and three NDPK domains, and are characterized as intermediate chains (ICs) of ...
      cd04416
      Location:120 → 256
      NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...

    8. NM_178130.4 → NP_835231.1  thioredoxin domain-containing protein 6 isoform b

      See identical proteins and their annotated locations for NP_835231.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence, the 3' UTR and coding sequence, and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, has a shorter and distinct C-terminus, and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AC022337, AC068777, AK094830
      Consensus CDS
      CCDS3099.1
      UniProtKB/Swiss-Prot
      Q86XW9
      Related
      ENSP00000372667.2, ENST00000383180.6
      Conserved Domains (2) summary
      cd04416
      Location:98 → 234
      NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...
      cl00388
      Location:1 → 67
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      138261436..138329851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448078.1 → XP_047304034.1  thioredoxin domain-containing protein 6 isoform X1

    RNA

    1. XR_007095675.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      141002003..141070404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346437.1 → XP_054202412.1  thioredoxin domain-containing protein 6 isoform X1

    RNA

    1. XR_008486712.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XW9.1 GenPept UniProtKB/Swiss-Prot:Q86XW9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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