|Institutional Source||Beutler Lab|
|Gene Name||pantothenate kinase 1|
|Synonyms||Pank1a, Pank1, 4632412I06Rik, Pank1b, 5430426F23Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.091)|
|Stock #||R0388 (G1)|
|Chromosomal Location||34810894-34879455 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 34821706 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000108079 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036584] [ENSMUST00000112460]|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
PHENOTYPE: Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pank1||
(F):5'- GTTTCAGCGCCTCACTAAGGACAG -3'
(R):5'- TTGGATGGGCATATCACAAAGCGAC -3'
(F):5'- CAGGAATCAAGTCTGAGGTCTGAC -3'
(R):5'- CAGTCTTGGAGGTGGGACATTC -3'