| Entrez Gene ID | 53354 |
|---|---|
| Official Gene Symbol | PANK1 (GeneCards) |
| Full name | pantothenate kinase 1 |
| Location | 10q23.31 |
| Other ids | Vega : OTTHUMG00000018718 MIM : 606160 HGNC : HGNC:8598 Ensembl : ENSG00000152782 |
| Other names | PANK |
| Summary | 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] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 929 | 53354 | PANK1 | 10 | 91352960 | 91352960 | Human Skin Fibroblasts | HiSeq 2500 |
| 13858 | 53354 | PANK1 | 10 | 91423675 | 91423675 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 14440 | 53354 | PANK1 | 10 | 91374152 | 91374152 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 14643 | 53354 | PANK1 | 10 | 91395665 | 91395665 | Asymptomatic | HiSeq 2500 HiSeq X Ten |