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Description for Protein PANK2

pantothenate kinase 2
6 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.7.1.33
KEGG - Orthology:
K09680
KEGG - Pathway(s):
hsa00770; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
HARP; HSS; PKAN; NBIA1; C20orf48; MGC15053; Pantothenic acid kinase; Neurodegeneration with brain iron accumulation; Neurodegeneration with brain iron accumulation 1; EC 2.7.1.33; Pantothenate kinase 2 isoform 1
Approved Symbol:
PANK2
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 12
Human (de-) phosphorylation sites: 12; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

None Available
Predicted Transmembrane Domains:
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05857 Entrez Gene ID: 80025 OMIM ID: 606157 Swissprot Accession: Q6P1K9; Q9BZ23;