LPIN3
lipin 3
Summary
The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6029640 | 20:39,970,385 | A/T | — | — |
| rs61730992 | 20:39,974,467 | G/A | — | likely benign |
| rs75620173 | 20:39,974,502 | A/G | — | benign |
| rs767734329 | 20:39,974,540 | G/A | — | uncertain significance |
| rs41277014 | 20:39,974,584 | C/G | — | likely benign |
| rs373805814 | 20:39,974,591 | G/C | — | uncertain significance |
| rs201955942 | 20:39,974,612 | G/A | — | uncertain significance |
| rs2045830532 | 20:39,976,256 | C/A | — | uncertain significance |
| rs746104657 | 20:39,977,301 | G/C | — | uncertain significance |
| rs146262637 | 20:39,977,364 | G/A | — | uncertain significance |
| rs199764930 | 20:39,977,377 | C/T | — | likely benign |
| rs201236014 | 20:39,977,404 | G/A | — | uncertain significance |
| rs201395513 | 20:39,977,407 | G/A | — | uncertain significance |
| rs778302093 | 20:39,977,732 | T/C | — | likely benign |
| rs41277018 | 20:39,978,439 | C/T | — | uncertain significance |
| rs770457732 | 20:39,978,458 | T/C | — | uncertain significance |
| rs772051812 | 20:39,978,467 | G/A | — | uncertain significance |
| rs761074521 | 20:39,978,765 | G/C | — | uncertain significance |
| rs376040914 | 20:39,978,779 | A/C | — | uncertain significance |
| rs143269247 | 20:39,978,805 | C/T | — | likely benign |
| rs1012674718 | 20:39,978,851 | G/A | — | uncertain significance |
| rs749157884 | 20:39,978,881 | C/G | — | uncertain significance |
| rs773909516 | 20:39,978,925 | G/T | — | likely benign |
| rs61730990 | 20:39,978,998 | G/C | — | uncertain significance |
| rs776572000 | 20:39,980,526 | G/T | — | uncertain significance |
| rs201412342 | 20:39,980,828 | G/A | — | uncertain significance |
| rs200958946 | 20:39,980,849 | A/G | — | uncertain significance |
| rs79682866 | 20:39,980,961 | G/A | — | — |
| rs201441091 | 20:39,981,275 | C/A | — | uncertain significance |
| rs573472022 | 20:39,981,472 | C/A | — | uncertain significance |
| rs777624273 | 20:39,983,286 | G/C | — | uncertain significance |
| rs74573862 | 20:39,983,372 | G/A | — | likely benign |
| rs745500799 | 20:39,984,664 | C/T | — | uncertain significance |
| rs751547953 | 20:39,984,666 | G/C | — | uncertain significance |
| rs376739657 | 20:39,985,684 | G/A | — | uncertain significance |
| rs762468320 | 20:39,985,725 | G/A | — | uncertain significance |
| rs775885873 | 20:39,985,753 | G/A | — | uncertain significance |
| rs374501980 | 20:39,985,816 | G/A | — | uncertain significance |
| rs769780618 | 20:39,986,026 | C/T | — | uncertain significance |
| rs773403140 | 20:39,986,027 | C/T | — | uncertain significance |
| rs56003481 | 20:39,986,360 | G/A | — | likely benign |
| rs2072969 | 20:39,986,540 | G/A | synonymous variant | — |
| rs756271958 | 20:39,986,551 | C/T | — | uncertain significance |
| rs747504026 | 20:39,986,560 | T/C | — | uncertain significance |
| rs377243327 | 20:39,986,586 | T/C | — | uncertain significance |
| rs200532675 | 20:39,986,887 | G/A | — | uncertain significance |
| rs146829513 | 20:39,986,914 | G/A | — | uncertain significance |
| rs776388793 | 20:39,986,944 | C/G | — | uncertain significance |
| rs200924989 | 20:39,987,100 | G/T | — | uncertain significance |
| rs2515740633 | 20:39,987,152 | T/C | — | uncertain significance |
| rs374973167 | 20:39,987,386 | C/T | — | likely benign |
| rs764038949 | 20:39,987,394 | T/C | — | uncertain significance |
| rs146929537 | 20:39,987,412 | G/A | — | uncertain significance |
| rs575986671 | 20:39,987,465 | C/T | — | uncertain significance |
| rs576404797 | 20:39,987,845 | G/A | — | — |
| rs2235595 | 20:39,988,658 | T/C | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.