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    NME5 NME/NM23 family member 5 [ Homo sapiens (human) ]

    Gene ID: 8382, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NME5provided by HGNC
    Official Full Name
    NME/NM23 family member 5provided by HGNC
    Primary source
    HGNC:HGNC:7853
    See related
    Ensembl:ENSG00000112981 MIM:603575; AllianceGenome:HGNC:7853
    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
    CILD48; NM23H5; RSPH23; NM23-H5
    Summary
    Enables 3'-5' exonuclease activity. Involved in spermatid development. Predicted to be located in 9+2 motile cilium. Predicted to be part of radial spoke. Predicted to be active in cilium. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 15.2), kidney (RPKM 4.4) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NME5 in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138115175..138139428, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138641496..138665760, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137450864..137475117, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1148, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137425944-137426482 Neighboring gene Wnt family member 8A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137430515-137431447 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:137436961-137437153 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, U6 small nuclear 460, pseudogene Neighboring gene RNA, U6 small nuclear 888, pseudogene Neighboring gene MPRA-validated peak5489 silencer Neighboring gene bromodomain containing 8 Neighboring gene Sharpr-MPRA regulatory region 11877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23195 Neighboring gene kinesin family member 20A Neighboring gene cell division cycle 23

    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. A new human nm23 homologue (nm23-H5) specifically expressed in testis germinal cells. Munier A, et al. FEBS Lett, 1998 Sep 4. PMID 9742940
    2. A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects. Cho EH, et al. Clin Genet, 2020 Jul. PMID 32185794
    3. Transactivation of the human NME5 gene by Sp1 in pancreatic cancer cells. Li F, et al. Gene, 2012 Jul 25. PMID 22564704
    4. Nm23/NDP kinases in human male germ cells: role in spermiogenesis and sperm motility? Munier A, et al. Exp Cell Res, 2003 Oct 1. PMID 14499630
    5. Characterization of the 3' --> 5' exonuclease activity found in human nucleoside diphosphate kinase 1 (NDK1) and several of its homologues. Yoon JH, et al. Biochemistry, 2005 Dec 6. PMID 16313181, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Ciliary dyskinesia, primary, 48, without situs inversus
    MedGen: C5774214 OMIM: 620032 GeneReviews: Not available
    		Compare labs

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleoside diphosphate kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein 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 GTP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UTP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial cilium movement involved in extracellular fluid movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleoside metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in ventricular system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in 9+2 motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of radial spoke ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm flagellum IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nucleoside diphosphate kinase homolog 5
    Names
    3'-5' exonuclease NME5
    IPIA-beta
    NDK-H 5
    NDP kinase homolog 5
    inhibitor of p53-induced apoptosis-beta
    non-metastatic cells 5 protein expressed in
    non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)
    radial spoke 23 homolog
    testis-specific nm23 homolog
    NP_003542.1
    XP_005272156.1
    XP_016865434.1
    XP_024301995.1
    XP_024301996.1
    XP_047273760.1
    XP_047273761.1
    XP_047273762.1
    XP_047273763.1
    XP_054209593.1
    XP_054209594.1
    XP_054209595.1
    XP_054209596.1
    XP_054209597.1
    XP_054209598.1
    XP_054209599.1
    XP_054209600.1

    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_003551.3 → NP_003542.1  nucleoside diphosphate kinase homolog 5

      See identical proteins and their annotated locations for NP_003542.1

      Status: VALIDATED

      Source sequence(s)
      AF067724, BC026182, BM979998, BX490554
      Consensus CDS
      CCDS4197.1
      UniProtKB/Swiss-Prot
      B2R5G7, P56597
      UniProtKB/TrEMBL
      A0A0S2Z4L9
      Related
      ENSP00000265191.2, ENST00000265191.4
      Conserved Domains (2) summary
      cd04418
      Location:13 → 144
      NDPk5; Nucleoside diphosphate kinase homolog 5 (NDP kinase homolog 5, NDPk5, NM23-H5; Inhibitor of p53-induced apoptosis-beta, IPIA-beta): In human, mRNA for NDPk5 is almost exclusively found in testis, especially in the flagella of spermatids and spermatozoa, ...
      pfam05186
      Location:156 → 197
      Dpy-30; Dpy-30 motif

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      138115175..138139428 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417806.1 → XP_047273762.1  nucleoside diphosphate kinase homolog 5 isoform X3

    2. XM_024446228.2 → XP_024301996.1  nucleoside diphosphate kinase homolog 5 isoform X4

      Conserved Domains (1) summary
      cd04418
      Location:13 → 144
      NDPk5; Nucleoside diphosphate kinase homolog 5 (NDP kinase homolog 5, NDPk5, NM23-H5; Inhibitor of p53-induced apoptosis-beta, IPIA-beta): In human, mRNA for NDPk5 is almost exclusively found in testis, especially in the flagella of spermatids and spermatozoa, ...

    3. XM_047417805.1 → XP_047273761.1  nucleoside diphosphate kinase homolog 5 isoform X2

    4. XM_017009945.3 → XP_016865434.1  nucleoside diphosphate kinase homolog 5 isoform X1

      Conserved Domains (2) summary
      cd04418
      Location:13 → 144
      NDPk5; Nucleoside diphosphate kinase homolog 5 (NDP kinase homolog 5, NDPk5, NM23-H5; Inhibitor of p53-induced apoptosis-beta, IPIA-beta): In human, mRNA for NDPk5 is almost exclusively found in testis, especially in the flagella of spermatids and spermatozoa, ...
      pfam05186
      Location:156 → 187
      Dpy-30; Dpy-30 motif

    5. XM_047417804.1 → XP_047273760.1  nucleoside diphosphate kinase homolog 5 isoform X1

    6. XM_024446227.2 → XP_024301995.1  nucleoside diphosphate kinase homolog 5 isoform X1

      Conserved Domains (2) summary
      cd04418
      Location:13 → 144
      NDPk5; Nucleoside diphosphate kinase homolog 5 (NDP kinase homolog 5, NDPk5, NM23-H5; Inhibitor of p53-induced apoptosis-beta, IPIA-beta): In human, mRNA for NDPk5 is almost exclusively found in testis, especially in the flagella of spermatids and spermatozoa, ...
      pfam05186
      Location:156 → 187
      Dpy-30; Dpy-30 motif

    7. XM_005272099.3 → XP_005272156.1  nucleoside diphosphate kinase homolog 5 isoform X5

      Conserved Domains (2) summary
      smart00562
      Location:13 → 148
      NDK; Enzymes that catalyze nonsubstrate specific conversions of nucleoside diphosphates to nucleoside triphosphates
      cd04418
      Location:13 → 144
      NDPk5; Nucleoside diphosphate kinase homolog 5 (NDP kinase homolog 5, NDPk5, NM23-H5; Inhibitor of p53-induced apoptosis-beta, IPIA-beta): In human, mRNA for NDPk5 is almost exclusively found in testis, especially in the flagella of spermatids and spermatozoa, ...

    8. XM_047417807.1 → XP_047273763.1  nucleoside diphosphate kinase homolog 5 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      138641496..138665760 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353621.1 → XP_054209596.1  nucleoside diphosphate kinase homolog 5 isoform X2

    2. XM_054353618.1 → XP_054209593.1  nucleoside diphosphate kinase homolog 5 isoform X1

    3. XM_054353620.1 → XP_054209595.1  nucleoside diphosphate kinase homolog 5 isoform X1

    4. XM_054353619.1 → XP_054209594.1  nucleoside diphosphate kinase homolog 5 isoform X1

    5. XM_054353622.1 → XP_054209597.1  nucleoside diphosphate kinase homolog 5 isoform X3

    6. XM_054353623.1 → XP_054209598.1  nucleoside diphosphate kinase homolog 5 isoform X4

    7. XM_054353624.1 → XP_054209599.1  nucleoside diphosphate kinase homolog 5 isoform X5

    8. XM_054353625.1 → XP_054209600.1  nucleoside diphosphate kinase homolog 5 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56597.1 GenPept UniProtKB/Swiss-Prot:P56597

    Gene LinkOut

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

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