Human Gene PANK2 (ENST00000316562.9) from GENCODE V44
Description: Homo sapiens pantothenate kinase 2 (PANK2), transcript variant 1, mRNA. (from RefSeq NM_153638) RefSeq Summary (NM_153638): 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, Jul 2008]. Gencode Transcript: ENST00000316562.9 Gencode Gene: ENSG00000125779.24 Transcript (Including UTRs) Position: hg38 chr20:3,888,923-3,929,887 Size: 40,965 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr20:3,889,101-3,923,294 Size: 34,194 Coding Exon Count: 7
ID:PANK2_HUMAN DESCRIPTION: RecName: Full=Pantothenate kinase 2, mitochondrial; Short=hPanK2; EC=2.7.1.33; AltName: Full=Pantothenic acid kinase 2; Flags: Precursor; FUNCTION: May be the master regulator of the CoA biosynthesis (By similarity). CATALYTIC ACTIVITY: ATP + (R)-pantothenate = ADP + (R)-4'- phosphopantothenate. ENZYME REGULATION: Regulated by feedback inhibition by CoA and its thioesters. PATHWAY: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5. INTERACTION: Q9H2U1:DHX36; NbExp=1; IntAct=EBI-1058434, EBI-1047643; Q9BS40:LXN; NbExp=1; IntAct=EBI-1058434, EBI-1044504; Q9H0J4:QRICH2; NbExp=1; IntAct=EBI-1058434, EBI-1053637; O14827:RASGRF2; NbExp=1; IntAct=EBI-1058434, EBI-1055500; P21796:VDAC1; NbExp=1; IntAct=EBI-1058434, EBI-354158; P27348:YWHAQ; NbExp=1; IntAct=EBI-1058434, EBI-359854; SUBCELLULAR LOCATION: Isoform 1: Mitochondrion. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm (Potential). SUBCELLULAR LOCATION: Isoform 3: Cytoplasm (Potential). SUBCELLULAR LOCATION: Isoform 4: Cytoplasm (Potential). TISSUE SPECIFICITY: Ubiquitous. DISEASE: Defects in PANK2 are the cause of neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]; also known as pantothenate kinase-associated neurodegeneration (PKAN) or Hallervorden-Spatz syndrome (HSS). It is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in the first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in the second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in the first decade with slow progression or onset in the second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. DISEASE: Defects in PANK2 are the cause of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) [MIM:607236]. HARP is a rare syndrome with many clinical similarities to NBIA1. MISCELLANEOUS: The HSS syndrome has been proposed to be renamed because of the unethical activities of Julius Hallervorden and Hugo Spatz during world war II. SIMILARITY: Belongs to the type II pantothenate kinase family. SEQUENCE CAUTION: Sequence=BAC05173.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PANK2"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pank2/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BZ23
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007286 spermatid development GO:0009060 aerobic respiration GO:0009108 coenzyme biosynthetic process GO:0015937 coenzyme A biosynthetic process GO:0015939 pantothenate metabolic process GO:0016310 phosphorylation GO:0019217 regulation of fatty acid metabolic process GO:0051881 regulation of mitochondrial membrane potential GO:0070584 mitochondrion morphogenesis GO:0090207 regulation of triglyceride metabolic process GO:1904251 regulation of bile acid metabolic process
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