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

Gene ID: 8382, updated on 5-Mar-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
Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway and spermatid development. Predicted to act upstream of or within cilium assembly; epithelial cilium movement involved in extracellular fluid movement; and ventricular system development. Predicted to be located in cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 15.2), kidney (RPKM 4.4) and 8 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138115175..138139428, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138641496..138665760, complement)
105.20220307 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
  • 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. Nme protein family evolutionary history, a vertebrate perspective. Desvignes T, et al. BMC Evol Biol, 2009 Oct 23. PMID 19852809, Free PMC Article

See all (18) 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
not available

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
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_2023_10

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

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