APOC1
apolipoprotein C1
Summary
This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs445925 | 19:45,415,640 | G/A | downstream gene variant | — |
| rs10414043 | 19:45,415,713 | G/A | downstream gene variant | — |
| rs483082 | 19:45,416,178 | G/T | regulatory region variant | — |
| rs390082 | 19:45,416,831 | T/A | — | — |
| rs66807996 | 19:45,417,575 | A/T | regulatory region variant | — |
| rs145422421 | 19:45,418,155 | C/T | — | uncertain significance |
| rs745648350 | 19:45,418,189 | T/C | — | uncertain significance |
| rs3826688 | 19:45,418,961 | T/C | intron variant | — |
| rs72654455 | 19:45,419,476 | G/A | — | uncertain significance |
| rs73052335 | 19:45,420,082 | A/G | — | — |
| rs389261 | 19:45,420,343 | G/A | intron variant | — |
| rs140480140 | 19:45,421,650 | G/A | intron variant | — |
| rs484195 | 19:45,421,877 | A/G | intron variant | — |
| rs12721051 | 19:45,422,160 | C/G | intron variant | — |
| rs545479140 | 19:45,422,433 | G/T | — | likely benign |
| rs1064725 | 19:45,422,561 | T/G | 3 prime UTR variant | — |
| rs12721054 | 19:45,422,587 | A/G | 3 prime UTR variant | — |
| rs56131196 | 19:45,422,846 | G/A | downstream gene variant | — |
| rs187408586 | 19:45,422,921 | A/G | downstream gene variant | — |
| rs4420638 | 19:45,422,946 | A/G | intergenic variant | not provided |
Gene information from NCBI Gene. Variant classifications from ClinVar.