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NME7 (NME/NM23 family member 7)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29922
Gene nameGene Name - the full gene name approved by the HGNC.
NME/NM23 family member 7
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NME7
SynonymsGene synonyms aliases
CFAP67, MN23H7, NDK 7, NDK7, nm23-H7
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.2
SummarySummary of gene provided in NCBI Entrez Gene.
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]
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004550 Function Nucleoside diphosphate kinase activity IEA
GO:0005515 Function Protein binding IPI 16189514, 21516116, 21988832, 25416956, 26638075, 27107012, 27173435, 29892012, 31515488, 32296183
GO:0005524 Function ATP binding IEA
GO:0005813 Component Centrosome IBA 21873635
GO:0005813 Component Centrosome IDA 21399614
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9Y5B8
Protein name Nucleoside diphosphate kinase 7 (NDK 7) (NDP kinase 7) (EC 2.7.4.6) (nm23-H7)
Protein function Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00334 NDK
92 226
Nucleoside diphosphate kinase
Domain
PF00334 NDK
238 375
Nucleoside diphosphate kinase
Domain
Sequence
Sequence length 376
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Purine metabolism
Pyrimidine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors
  Recruitment of mitotic centrosome proteins and complexes
Recruitment of NuMA to mitotic centrosomes
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Gastrointestinal stromal tumor Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs-1, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331 27793025
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Situs inversus Situs Inversus rs528302390, rs1596264554 27060491

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