PANK1
Pantothenate kinase 1 is an enzyme that in humans is encoded by the PANK1 gene.[5]
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| Aliases | PANK1, PANK, pantothenate kinase 1 | ||||||||||||||||||||||||
| External IDs | OMIM: 606160 MGI: 1922985 HomoloGene: 56979 GeneCards: PANK1 | ||||||||||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||||||||||
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| Location (UCSC) | Chr 10: 89.58 – 89.65 Mb | Chr 19: 34.81 – 34.88 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
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This gene encodes a protein belonging to the pantothenate kinase family, which in mammals is made of up PANK1, PANK2, PANK3, and PANK4. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, have been identified.[5]
References
- GRCh38: Ensembl release 89: ENSG00000152782 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000033610 - 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.
- "Entrez Gene: PANK1 pantothenate kinase 1".
Further reading
- Robishaw JD, Neely JR (1985). "Coenzyme A metabolism". Am. J. Physiol. 248 (1 Pt 1): E1–9. doi:10.1152/ajpendo.1985.248.1.E1. PMID 2981478.
- Hong BS, Senisterra G, Rabeh WM, et al. (2007). "Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder". J. Biol. Chem. 282 (38): 27984–93. doi:10.1074/jbc.M701915200. PMID 17631502.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
- Ramaswamy G, Karim MA, Murti KG, Jackowski S (2004). "PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression". J. Lipid Res. 45 (1): 17–31. doi:10.1194/jlr.M300279-JLR200. PMID 14523052.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Westaway SK, Hayflick SJ, Zhou B, Gitschier JD (2003). "In reference to the Short Communication published by Ni et al". Int. J. Biochem. Cell Biol. 34 (12): 1629. doi:10.1016/S1357-2725(02)00125-5. PMID 12379284.
- Zhou B, Westaway SK, Levinson B, et al. (2001). "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome". Nat. Genet. 28 (4): 345–9. doi:10.1038/ng572. PMID 11479594. S2CID 20400095.
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