PANK2 (gene) (original) (raw)

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Protein-coding gene in the species Homo sapiens

PANK2
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes5E26
Identifiers
Aliases	PANK2, C20orf48, HARP, HSS, NBIA1, PKAN, pantothenate kinase 2
External IDs	OMIM: 606157; MGI: 1921700; HomoloGene: 65126; GeneCards: PANK2; OMA:PANK2 - orthologs
Gene location (Human)Chr.Chromosome 20 (human)[1]Band20p13Start3,888,839 bp[1]End3,929,887 bp[1]
Gene location (Mouse)Chr.Chromosome 2 (mouse)[2]Band2|2 F1Start131,104,415 bp[2]End131,141,108 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inendothelial cellstromal cell of endometriummonocyteBrodmann area 23granulocytebloodmiddle temporal gyrusgingival epitheliumDescending thoracic aortaspermTop expressed inspermatidspermatocytecumulus celltail of embryoPaneth cellventricular zonecondylefossaendothelial cell of lymphatic vesselhandMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function transferase activity nucleotide binding kinase activity ATP binding pantothenate kinase activity protein binding Cellular component mitochondrial intermembrane space mitochondrion cytoplasm cytosol nucleus Biological process regulation of bile acid metabolic process phosphorylation coenzyme A biosynthetic process regulation of mitochondrial membrane potential aerobic respiration regulation of triglyceride metabolic process regulation of fatty acid metabolic process spermatid development mitochondrion morphogenesis pantothenate metabolic process Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez8002574450EnsemblENSG00000125779ENSMUSG00000037514UniProtQ9BZ23Q6P1K9Q7M753RefSeq (mRNA)NM_024960NM_153637NM_153638NM_153639NM_153640NM_153641NM_001324191NM_001324192NM_001324193NM_001386393NM_153501NM_001355679NM_001355681NM_001355682NM_001355683RefSeq (protein)NP_001311120NP_001311121NP_001311122NP_079236NP_705902NP_705904NP_705904.1NP_001342608NP_001342610NP_001342611NP_001342612NP_705721Location (UCSC)Chr 20: 3.89 – 3.93 MbChr 2: 131.1 – 131.14 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Pantothenate kinase 2, mitochondrial is an enzyme that in humans is encoded by the PANK2 gene.[5]

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. 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 acyl CoA species. Mutations in this gene are associated with HARP syndrome and Pantothenate kinase-associated neurodegeneration (PKAN). Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.[6]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000125779 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037514 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Zhang, YM; O Rock, C; Jackowski, S (January 2006). "Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration". The Journal of Biological Chemistry. 281 (1): 107–14. doi:10.1074/jbc.M508825200. PMID 16272150.
6. ^ "Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)".

• 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.

• Hayflick SJ (2007). "Neurodegeneration with brain iron accumulation: from genes to pathogenesis". Seminars in Pediatric Neurology. 13 (3): 182–5. doi:10.1016/j.spen.2006.08.007. PMID 17101457.

• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.

• Ching KH, Westaway SK, Gitschier J, et al. (2002). "HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration". Neurology. 58 (11): 1673–4. doi:10.1212/wnl.58.11.1673. PMID 12058097. S2CID 44558289.

• 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

• Hörtnagel K, Prokisch H, Meitinger T (2003). "An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria". Hum. Mol. Genet. 12 (3): 321–7. doi:10.1093/hmg/ddg026. PMID 12554685.

• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.

• Johnson MA, Kuo YM, Westaway SK, et al. (2004). "Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration". Ann. N. Y. Acad. Sci. 1012 (1): 282–98. Bibcode:2004NYASA1012..282J. doi:10.1196/annals.1306.023. PMID 15105273. S2CID 29442698.

• Marelli C, Piacentini S, Garavaglia B, et al. (2005). "Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration". Mov. Disord. 20 (2): 208–12. doi:10.1002/mds.20282. PMID 15390030. S2CID 45760854.

• Yamashita S, Maeda Y, Ohmori H, et al. (2005). "Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene". J. Neurol. Sci. 225 (1–2): 129–33. doi:10.1016/j.jns.2004.07.012. PMID 15465096. S2CID 12640184.

• Kotzbauer PT, Truax AC, Trojanowski JQ, Lee VM (2005). "Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2". J. Neurosci. 25 (3): 689–98. doi:10.1523/JNEUROSCI.4265-04.2005. PMC 6725318. PMID 15659606.

• Zhang YH, Tang BS, Zhao AL, et al. (2005). "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration". Mov. Disord. 20 (7): 819–21. doi:10.1002/mds.20408. PMC 2105744. PMID 15747360.

• Klopstock T, Elstner M, Lücking CB, et al. (2005). "Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease". Neurosci. Lett. 379 (3): 195–8. doi:10.1016/j.neulet.2004.12.061. PMID 15843062. S2CID 31733534.

• Pellecchia MT, Valente EM, Cif L, et al. (2006). "The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration". Neurology. 64 (10): 1810–2. doi:10.1212/01.WNL.0000161843.52641.EC. PMID 15911822. S2CID 23003382.

• Rump P, Lemmink HH, Verschuuren-Bemelmans CC, et al. (2006). "A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect". Neurogenetics. 6 (4): 201–7. doi:10.1007/s10048-005-0018-9. PMC 2105745. PMID 16240131.

• GeneReviews/NCBI/NIH/UW entry on Pantothenate Kinase-Associated Neurodegeneration