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    NME1-NME2 NME1-NME2 readthrough [ Homo sapiens (human) ]

    Gene ID: 654364, updated on 7-Apr-2024

    Summary

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    Official Symbol
    NME1-NME2provided by HGNC
    Official Full Name
    NME1-NME2 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:33531
    See related
    Ensembl:ENSG00000011052 AllianceGenome:HGNC:33531
    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
    NMELV; NM23-LV
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring NME1 and NME2 genes. The significance of this read-through transcription and the function of the resulting protein product have not yet been determined. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in colon (RPKM 115.4), ovary (RPKM 91.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See NME1-NME2 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (51153559..51171744)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (52020874..52039047)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (49230920..49249105)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904029 Neighboring gene Sharpr-MPRA regulatory region 1122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49029041-49029542 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:49031243-49032442 Neighboring gene sperm associated antigen 9 Neighboring gene Sharpr-MPRA regulatory region 10137 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49175960-49176460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8722 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:49198151-49198965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12400 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:49205455-49205678 Neighboring gene MPRA-validated peak2888 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr17:49219886-49220387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49222416-49222916 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:49230233-49231432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49232587-49233118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:49243725-49244333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8725 Neighboring gene MPRA-validated peak2890 silencer Neighboring gene NME/NM23 nucleoside diphosphate kinase 1 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 Neighboring gene mbt domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12402 Neighboring gene UTP18 small subunit processome component Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12403 Neighboring gene NANOG hESC enhancer GRCh37_chr17:49408132-49408651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:49409544-49410044 Neighboring gene long intergenic non-protein coding RNA 2071

    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. Read-through transcript from NM23-H1 into the neighboring NM23-H2 gene encodes a novel protein, NM23-LV. Valentijn LJ, et al. Genomics, 2006 Apr. PMID 16442775
    2. Plakoglobin interacts with and increases the protein levels of metastasis suppressor Nm23-H2 and regulates the expression of Nm23-H1. Aktary Z, et al. Oncogene, 2010 Apr 8. PMID 20101217
    3. Human c-myc transcription factor PuF identified as nm23-H2 nucleoside diphosphate kinase, a candidate suppressor of tumor metastasis. Postel EH, et al. Science, 1993 Jul 23. PMID 8392752
    4. Novel roles of NM23 proteins in skin homeostasis, repair and disease. Braun S, et al. Oncogene, 2007 Jan 25. PMID 16862176
    5. Nucleoside diphosphate kinase from human erythrocytes. Structural characterization of the two polypeptide chains responsible for heterogeneity of the hexameric enzyme. Gilles AM, et al. J Biol Chem, 1991 May 15. PMID 1851158

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    2. Plakoglobin has a role in regulating the metastasis suppressor activity of Nm23.
      Title: Plakoglobin interacts with and increases the protein levels of metastasis suppressor Nm23-H2 and regulates the expression of Nm23-H1.
    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
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough NME1-NME2

    Included genes: NME1, NME2

    Homology

    Clone Names

    • FLJ93990

    General protein information

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    Preferred Names
    NME1-NME2 protein
    Names
    NME1-NME2 readthrough transcript
    NP_001018146.1

    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_001018136.3 → NP_001018146.1  NME1-NME2 protein

      See identical proteins and their annotated locations for NP_001018146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the supported protein.
      Source sequence(s)
      AC005839, BC133029, DQ109675
      UniProtKB/TrEMBL
      Q32Q12
      Related
      ENSP00000376889.2, ENST00000393193.6
      Conserved Domains (4) summary
      PTZ00093
      Location:118 → 266
      PTZ00093; nucleoside diphosphate kinase, cytosolic; Provisional
      smart00562
      Location:5 → 114
      NDK; Enzymes that catalyze nonsubstrate specific conversions of nucleoside diphosphates to nucleoside triphosphates
      cd04413
      Location:5 → 114
      NDPk_I; Nucleoside diphosphate kinase Group I (NDPk_I)-like: NDP kinase domains are present in a large family of structurally and functionally conserved proteins from bacteria to humans that generally catalyze the transfer of gamma-phosphates of a nucleoside ...
      pfam00334
      Location:120 → 254
      NDK; Nucleoside diphosphate kinase

    RNA

    1. NR_037149.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an additional internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with the translation of the longest ORF; translation of the upstream ORF may render the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC005839, BC107894, DQ109675
      Related
      ENST00000555572.1

    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
      51153559..51171744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      52020874..52039047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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