AK3 (adenylate kinase 3)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 50808 |
| Gene name | Adenylate kinase 3 |
| Gene symbol | AK3 |
| Synonyms (NCBI Gene) |
AK3L1AK6AKL3LAKL3L1FIX
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| Chromosome | 9 |
| Chromosome location | 9p24.1 |
| Summary | The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010] |
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miRNA
miRNA information provided by mirtarbase database.
560
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9UIJ7 | |||||||||||||||
| Protein name | GTP:AMP phosphotransferase AK3, mitochondrial (EC 2.7.4.10) (Adenylate kinase 3) (Adenylate kinase 3 alpha-like 1) (Adenylate kinase isozyme 3) | |||||||||||||||
| Protein function | Mitochondrial adenylate kinase with a specific GTP:AMP phosphotransferase activity (PubMed:11485571, PubMed:32822537). Could also use ITP as phosphate donor (PubMed:11485571). Its physiological function is to recycle GTP into GDP which is necess | |||||||||||||||
| PDB | 1ZD8 , 6ZJB , 6ZJD , 6ZJE | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle and liver, moderately expressed in pancreas and kidney, and weakly expressed in placenta, brain and lung. {ECO:0000269|PubMed:11485571}. | |||||||||||||||
| Sequence |
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| Sequence length | 227 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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