PANK2

PANK2
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 5E26
Identifikatori
Aliasi	PANK2
Vanjski ID-jevi	OMIM: 606157 MGI: 1921700 HomoloGene: 65126 GeneCards: PANK2
Lokacija gena (čovjek) Hrom. Hromosom 20 (čovjek) Bend 20p13 Početak 3,888,839 bp Kraj 3,929,887 bp
Lokacija gena (miš) Hrom. Hromosom 2 (miš) Bend 2|2 F1 Početak 131,104,415 bp Kraj 131,141,108 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • aktivnost sa transferazom • nucleotide binding • kinase activity • ATP binding • pantothenate kinase activity • GO:0001948, GO:0016582 vezivanje za proteine Ćelijska komponenta • mitochondrial intermembrane space • mitohondrija • citoplazma • citosol • jedro Biološki proces • regulation of bile acid metabolic process • Fosforilacija • 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 Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	80025	74450
Ensembl	ENSG00000125779	ENSMUSG00000037514
UniProt	Q9BZ23 Q6P1K9	Q7M753
RefSeq (mRNK)	NM_024960 NM_153637 NM_153638 NM_153639 NM_153640 NM_153641 NM_001324191 NM_001324192 NM_001324193 NM_001386393	NM_153501 NM_001355679 NM_001355681 NM_001355682 NM_001355683
RefSeq (bjelančevina)	NP_001311120 NP_001311121 NP_001311122 NP_079236 NP_705902 NP_705904 NP_705904.1	NP_001342608 NP_001342610 NP_001342611 NP_001342612 NP_705721
Lokacija (UCSC)	Chr 20: 3.89 – 3.93 Mb	Chr 2: 131.1 – 131.14 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Mitohondrijska pantotenat-kinaza 2 je enzim koji je kod ljudi kodiran genom PANK2.

Ovaj gen kodira protein koji pripada porodici pantotenat-kinaza i jedini je član te porodice koji se eksprimira u mitohondrijama. Pantotenat-kinaza je ključni regulatorni enzim u biosintezi koenzima A (CoA) u bakterijama i ćelijama sisara. Katalizira prvi korak u univerzalnom biosintetskom putu koji vodi do CoA i sam podliježe regulaciji putem inhibicije povratne sprege tipova acil CoA. Mutacije u ovom genu povezane su s sindromom HARP i neurodegeneracijom povezane sa pantotenat-kinazom (PKAN). Alternativna prerada, uključujući upotrebu zamjenskih prvih egzona, rezultira u više transkripata koji kodiraju različite izoforme.

Dopunska literatura

• 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. 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. 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.
• 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.
• 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.
• 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.
• 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.

Vanjski linkovi

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