Description: Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA. RefSeq Summary (NM_148977): This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]. Transcript (Including UTRs) Position: hg19 chr10:91,339,254-91,405,329 Size: 66,076 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr10:91,344,163-91,405,059 Size: 60,897 Coding Exon Count: 7
ID:PANK1_HUMAN DESCRIPTION: RecName: Full=Pantothenate kinase 1; Short=hPanK; Short=hPanK1; EC=2.7.1.33; AltName: Full=Pantothenic acid kinase 1; FUNCTION: Plays a role in the physiological regulation of the intracellular CoA concentration (By similarity). CATALYTIC ACTIVITY: ATP + (R)-pantothenate = ADP + (R)-4'- phosphopantothenate. ENZYME REGULATION: Regulated by feedback inhibition by CoA and its thioesters. Strongly inhibited by acetyl-CoA and by manyl-CoA and also inhibited by high concentration of non-esterified CoA (CoASH) (By similarity). PATHWAY: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Isoform 1 is expressed at high levels in brain, heart, kidney, liver, skeletal muscle and testis. Isoform 2 is detected at much lower levels in kidney, liver, brain and testis and is not detected in heart or skeletal muscle. INDUCTION: Isoform 1 is induced by bezafibrate, a hypolipidemic drug which acts as an agonist of peroxisome proliferator activator receptor alpha (PPARA), while isoform 2 levels decrease slightly. DOMAIN: The N-terminal extension, present in isoform 1 may be the regulatory domain. SIMILARITY: Belongs to the type II pantothenate kinase family. SEQUENCE CAUTION: Sequence=AAH26296.1; Type=Erroneous initiation;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PANK1 CDC HuGE Published Literature: PANK1 Positive Disease Associations: Insulin
, other metabolic traits Related Studies:
Insulin Chiara Sabatti et al. Nature genetics 2009, Genome-wide association analysis of metabolic traits in a birth cohort from a founder population., Nature genetics.
[PubMed 19060910]
other metabolic traits Sabatti ,et al. 2008, Genome-wide association analysis of metabolic traits in a birth cohort from a founder population, Nature genetics 2009 41- 1 : 35-46.
[PubMed 19060910]
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 Q8TE04
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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.
US Server
