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NME7 NME/NM23 family member 7 [ Homo sapiens (human) ]

Gene ID: 29922, updated on 24-Nov-2020

Summary

Official Symbol
NME7provided by HGNC
Official Full Name
NME/NM23 family member 7provided by HGNC
Primary source
HGNC:HGNC:20461
See related
Ensembl:ENSG00000143156 MIM:613465
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
NDK7; NDK 7; CFAP67; MN23H7; nm23-H7
Summary
This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Broad expression in kidney (RPKM 30.7), gall bladder (RPKM 25.0) and 21 other tissues See more
Orthologs

Genomic context

See NME7 in Genome Data Viewer
Location:
1q24.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (169132531..169367797, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169101258..169337186, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928596 Neighboring gene Sharpr-MPRA regulatory region 11596 Neighboring gene ATPase Na+/K+ transporting subunit beta 1 Neighboring gene uncharacterized LOC105371605 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
GeneReviews: Not available
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genetic predictors of fibrin D-dimer levels in healthy adults.
GeneReviews: Not available
Genetics of venous thrombosis: insights from a new genome wide association study.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37194

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleoside diphosphate kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
CTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
GTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
UTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
nucleoside diphosphate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
nucleoside diphosphate kinase 7
Names
NDP kinase 7
cilia and flagella associated protein 67
non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)
NP_037462.1
NP_932076.1

NCBI Reference Sequences (RefSeq)

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_051763.1 RefSeqGene

    Range
    5167..240433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_013330.5NP_037462.1  nucleoside diphosphate kinase 7 isoform a

    See identical proteins and their annotated locations for NP_037462.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform a).
    Source sequence(s)
    AF153191, BG204249
    Consensus CDS
    CCDS1277.1
    UniProtKB/Swiss-Prot
    Q9Y5B8
    Related
    ENSP00000356785.3, ENST00000367811.8
    Conserved Domains (3) summary
    smart00676
    Location:391
    DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
    cd04412
    Location:238371
    NDPk7B; Nucleoside diphosphate kinase 7 domain B (NDPk7B): The nm23-H7 class of nucleoside diphosphate kinase (NDPk7) consists of an N-terminal DM10 domain and two functional catalytic NDPk modules, NDPk7A and NDPk7B. The function of the DM10 domain, which also ...
    cd04415
    Location:92222
    NDPk7A; Nucleoside diphosphate kinase 7 domain A (NDPk7A): The nm23-H7 class of nucleoside diphosphate kinase (NDPk7) consists of an N-terminal DM10 domain and two functional catalytic NDPk modules, NDPk7A and NDPk7B. The function of the DM10 domain, which also ...
  2. NM_197972.3NP_932076.1  nucleoside diphosphate kinase 7 isoform b

    See identical proteins and their annotated locations for NP_932076.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream AUG, compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.
    Source sequence(s)
    AK094513, BG204249
    Consensus CDS
    CCDS44274.1
    UniProtKB/Swiss-Prot
    Q9Y5B8
    UniProtKB/TrEMBL
    A0A024R8Z7
    Related
    ENSP00000433341.1, ENST00000472647.5
    Conserved Domains (3) summary
    cd04412
    Location:202335
    NDPk7B; Nucleoside diphosphate kinase 7 domain B (NDPk7B): The nm23-H7 class of nucleoside diphosphate kinase (NDPk7) consists of an N-terminal DM10 domain and two functional catalytic NDPk modules, NDPk7A and NDPk7B. The function of the DM10 domain, which also ...
    cd04415
    Location:56186
    NDPk7A; Nucleoside diphosphate kinase 7 domain A (NDPk7A): The nm23-H7 class of nucleoside diphosphate kinase (NDPk7) consists of an N-terminal DM10 domain and two functional catalytic NDPk modules, NDPk7A and NDPk7B. The function of the DM10 domain, which also ...
    cl26962
    Location:355
    DUF1126; DUF1126 PH-like domain

RNA

  1. NR_104229.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK301917, BG204249
    Related
    ENST00000525440.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    169132531..169367797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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