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    NME1 NME/NM23 nucleoside diphosphate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 4830, updated on 28-Oct-2024

    Summary

    Official Symbol
    NME1provided by HGNC
    Official Full Name
    NME/NM23 nucleoside diphosphate kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:7849
    See related
    Ensembl:ENSG00000239672 MIM:156490; AllianceGenome:HGNC:7849
    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
    NB; AWD; NBS; GAAD; NDKA; NM23; NDPKA; NDPK-A; NM23-H1
    Summary
    This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in appendix (RPKM 37.1), brain (RPKM 32.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NME1 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (51153559..51162168)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (52020874..52029483)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (49230920..49239529)

    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 silent region 8722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12398 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 NME1-NME2 readthrough Neighboring gene MPRA-validated peak2890 silencer 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 UTP18 small subunit processome component

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    SiRNA-mediated knockdown of one of the components of the SET complex, NM23-H1, inhibits HIV-1 infection with significantly reduced levels of integrated HIV-1 DNA and viral production in HeLa-CD4 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    reverse transcriptase gag-pol HIV-1 RT forms a complex with NDPKA in vitro PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough NME1-NME2

    Readthrough gene: NME1-NME2, Included gene: NME2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA nuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nucleoside diphosphate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nucleoside diphosphate kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribosomal small subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in CTP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA metabolic 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
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lactation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleus HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    nucleoside diphosphate kinase A
    Names
    NDP kinase A
    epididymis secretory sperm binding protein
    granzyme A-activated DNase
    metastasis inhibition factor nm23
    non-metastatic cells 1, protein (NM23A) expressed in
    tumor metastatic process-associated protein
    NP_000260.1
    NP_937818.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_021169.1 RefSeqGene

      Range
      5001..13610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000269.3 → NP_000260.1  nucleoside diphosphate kinase A isoform b

      See identical proteins and their annotated locations for NP_000260.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC005839, AF487339, BE727815, BF965472, BG715560, BI666785, BM479520, BU600979
      Consensus CDS
      CCDS11579.1
      UniProtKB/Swiss-Prot
      P15531, Q6FGK3, Q86XQ2, Q9UDJ6
      UniProtKB/TrEMBL
      A0A384MTW7
      Related
      ENSP00000376892.3, ENST00000393196.8
      Conserved Domains (1) summary
      PTZ00093
      Location:5 → 151
      PTZ00093; nucleoside diphosphate kinase, cytosolic; Provisional
    2. NM_198175.1 → NP_937818.1  nucleoside diphosphate kinase A isoform a

      See identical proteins and their annotated locations for NP_937818.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF487339, AL360191, BE727815, BF965472, BG531372, BG715560, BG757842, BI666785, BM479520
      Consensus CDS
      CCDS11578.1
      UniProtKB/Swiss-Prot
      P15531
      Related
      ENSP00000337060.3, ENST00000336097.7
      Conserved Domains (2) summary
      PTZ00093
      Location:30 → 176
      PTZ00093; nucleoside diphosphate kinase, cytosolic; Provisional
      pfam00334
      Location:30 → 164
      NDK; Nucleoside diphosphate kinase

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      51153559..51162168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      52020874..52029483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)