PANK2

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

PANK2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5E26
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] Band 20p13 Start 3,888,839 bp[1] End 3,929,887 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 F1 Start 131,104,415 bp[2] End 131,141,108 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell stromal cell of endometrium monocyte Brodmann area 23 granulocyte blood middle temporal gyrus gingival epithelium Descending thoracic aorta sperm Top expressed in spermatid spermatocyte cumulus cell tail of embryo Paneth cell ventricular zone condyle fossa endothelial cell of lymphatic vessel hand More reference expression data BioGPS More reference expression data
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 80025 74450 Ensembl ENSG00000125779 ENSMUSG00000037514 UniProt Q9BZ23 Q6P1K9 Q7M753 RefSeq (mRNA) 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 (protein) 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 Location (UCSC) Chr 20: 3.89 – 3.93 Mb Chr 2: 131.1 – 131.14 Mb PubMed search [3] [4]
Wikidata
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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]