NME7 (NME/NM23 family member 7)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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29922 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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NME7 |
SynonymsGene synonyms aliases
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CFAP67, MN23H7, NDK 7, NDK7, nm23-H7 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q24.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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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.
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Associated diseases
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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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Tel: +91-22-24192104, Fax No: +91-22-24139412 |