| AK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | AK2, ADK2, AK 2, adenylate kinase 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 103020; MGI: 87978; HomoloGene: 1227; GeneCards: AK2; OMA: AK2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| EC number | 2.7.4.3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Adenylate kinase 2 is an enzyme that is encoded in humans by the AK2 gene. [5] [6] [7] The AK2 protein is found in the intermembrane space of the mitochondrion. [8] [9]
Function
Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Two transcript variants encoding distinct isoforms have been identified for this gene. [7]
AK2 deficiency
Adenylate Kinase 2 (AK2) deficiency in humans causes hematopoietic defects associated with sensorineural deafness. [10] [11] Reticular dysgenesis is an autosomal recessive form of human combined immunodeficiency. It is also characterized by an impaired lymphoid maturation and early differentiation arrest in the myeloid lineage. AK2 deficiency results in absent or a large decrease in the expression of proteins. AK2 is specifically expressed in the stria vascularis of the inner ear which indicates why individuals with an AK2 deficiency will have sensorineural deafness. [11]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000004455 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028792 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Lee Y, Kim JW, Lee IA, Kang HB, Choe YK, Lee HG, Lim JS, Kim HJ, Park C, Choe IS (Feb 1997). "Cloning and characterization of cDNA for human adenylate kinase 2A". Biochem Mol Biol Int. 39 (4): 833–42. doi: 10.1080/15216549600201931. PMID 8843353. S2CID 20344485.
- ^ Carritt B, King J, Welch HM (Mar 1983). "Gene order and localization of enzyme loci on the short arm of chromosome 1". Ann Hum Genet. 46 (Pt 4): 329–35. doi: 10.1111/j.1469-1809.1982.tb01583.x. PMID 6961883. S2CID 30856048.
- ^ a b "Entrez Gene: AK2 adenylate kinase 2".
- ^ Bruns GA, Regina VM (1977). "Adenylate kinase 2, a mitochondrial enzyme". Biochem. Genet. 15 (5–6): 477–86. doi: 10.1007/BF00520192. PMID 195572. S2CID 21214450.
- ^ Köhler C, Gahm A, Noma T, et al. (1999). "Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis". FEBS Lett. 447 (1): 10–2. doi: 10.1016/S0014-5793(99)00251-3. PMID 10218571. S2CID 21280401.
- ^ Pannicke U, Hönig M, Hess I, et al. (January 2009). "Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2". Nat. Genet. 41 (1): 101–105. doi: 10.1038/ng.265. PMID 19043417. S2CID 205347130.
- ^ a b Lagresle-Peyrou C, Six EM, Picard C, et al. (January 2009). "Human adenylate kinase 2 deficiency causes a profound haematopoietic defect associated with sensorineural deafness". Nat. Genet. 41 (1): 106–11. doi: 10.1038/ng.278. PMC 2612090. PMID 19043416.
External links
- Human AK2 genome location and AK2 gene details page in the UCSC Genome Browser.
Further reading
- Lee Y, Kim JW, Lee SM, et al. (1998). "Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues". J. Biochem. 123 (1): 47–54. doi: 10.1093/oxfordjournals.jbchem.a021915. PMID 9504408.
- Noma T, Song S, Yoon YS, et al. (1998). "cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2". Biochim. Biophys. Acta. 1395 (1): 34–9. doi: 10.1016/s0167-4781(97)00193-0. PMID 9434148.
- Hamada M, Sumida M, Okuda H, et al. (1982). "Adenosine triphosphate-adenosine-5'-monophosphate phosphotransferase from normal human liver mitochondria. Isolation, chemical properties, and immunochemical comparison with Duchenne dystrophic serum aberrant adenylate kinase". J. Biol. Chem. 257 (21): 13120–8. doi: 10.1016/S0021-9258(18)33631-7. PMID 6182143.
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 | This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |
| AK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | AK2, ADK2, AK 2, adenylate kinase 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 103020; MGI: 87978; HomoloGene: 1227; GeneCards: AK2; OMA: AK2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| EC number | 2.7.4.3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Adenylate kinase 2 is an enzyme that is encoded in humans by the AK2 gene. [5] [6] [7] The AK2 protein is found in the intermembrane space of the mitochondrion. [8] [9]
Function
Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Two transcript variants encoding distinct isoforms have been identified for this gene. [7]
AK2 deficiency
Adenylate Kinase 2 (AK2) deficiency in humans causes hematopoietic defects associated with sensorineural deafness. [10] [11] Reticular dysgenesis is an autosomal recessive form of human combined immunodeficiency. It is also characterized by an impaired lymphoid maturation and early differentiation arrest in the myeloid lineage. AK2 deficiency results in absent or a large decrease in the expression of proteins. AK2 is specifically expressed in the stria vascularis of the inner ear which indicates why individuals with an AK2 deficiency will have sensorineural deafness. [11]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000004455 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028792 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Lee Y, Kim JW, Lee IA, Kang HB, Choe YK, Lee HG, Lim JS, Kim HJ, Park C, Choe IS (Feb 1997). "Cloning and characterization of cDNA for human adenylate kinase 2A". Biochem Mol Biol Int. 39 (4): 833–42. doi: 10.1080/15216549600201931. PMID 8843353. S2CID 20344485.
- ^ Carritt B, King J, Welch HM (Mar 1983). "Gene order and localization of enzyme loci on the short arm of chromosome 1". Ann Hum Genet. 46 (Pt 4): 329–35. doi: 10.1111/j.1469-1809.1982.tb01583.x. PMID 6961883. S2CID 30856048.
- ^ a b "Entrez Gene: AK2 adenylate kinase 2".
- ^ Bruns GA, Regina VM (1977). "Adenylate kinase 2, a mitochondrial enzyme". Biochem. Genet. 15 (5–6): 477–86. doi: 10.1007/BF00520192. PMID 195572. S2CID 21214450.
- ^ Köhler C, Gahm A, Noma T, et al. (1999). "Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis". FEBS Lett. 447 (1): 10–2. doi: 10.1016/S0014-5793(99)00251-3. PMID 10218571. S2CID 21280401.
- ^ Pannicke U, Hönig M, Hess I, et al. (January 2009). "Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2". Nat. Genet. 41 (1): 101–105. doi: 10.1038/ng.265. PMID 19043417. S2CID 205347130.
- ^ a b Lagresle-Peyrou C, Six EM, Picard C, et al. (January 2009). "Human adenylate kinase 2 deficiency causes a profound haematopoietic defect associated with sensorineural deafness". Nat. Genet. 41 (1): 106–11. doi: 10.1038/ng.278. PMC 2612090. PMID 19043416.
External links
- Human AK2 genome location and AK2 gene details page in the UCSC Genome Browser.
Further reading
- Lee Y, Kim JW, Lee SM, et al. (1998). "Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues". J. Biochem. 123 (1): 47–54. doi: 10.1093/oxfordjournals.jbchem.a021915. PMID 9504408.
- Noma T, Song S, Yoon YS, et al. (1998). "cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2". Biochim. Biophys. Acta. 1395 (1): 34–9. doi: 10.1016/s0167-4781(97)00193-0. PMID 9434148.
- Hamada M, Sumida M, Okuda H, et al. (1982). "Adenosine triphosphate-adenosine-5'-monophosphate phosphotransferase from normal human liver mitochondria. Isolation, chemical properties, and immunochemical comparison with Duchenne dystrophic serum aberrant adenylate kinase". J. Biol. Chem. 257 (21): 13120–8. doi: 10.1016/S0021-9258(18)33631-7. PMID 6182143.
PDB gallery | |
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| This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |