ABCE1
ATP binding cassette subfamily E member 1
Summary
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1225778553 | 4:146,025,573 | C/G | — | uncertain significance |
| rs2546719893 | 4:146,030,310 | T/C | — | uncertain significance |
| rs139255095 | 4:146,030,326 | A/T | — | benign |
| rs759258481 | 4:146,031,578 | A/G | — | likely benign |
| rs111590771 | 4:146,031,603 | G/T | — | benign |
| rs1007884016 | 4:146,032,194 | G/A | — | uncertain significance |
| rs193920849 | 4:146,032,214 | T/G | — | uncertain significance |
| rs35406092 | 4:146,033,406 | G/A | — | benign |
| rs2546728358 | 4:146,041,086 | A/G | — | uncertain significance |
| rs2546728405 | 4:146,041,194 | A/T | — | uncertain significance |
| rs34070877 | 4:146,044,417 | C/T | — | benign |
| rs371740110 | 4:146,044,634 | A/G | — | uncertain significance |
| rs6537330 | 4:146,050,803 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.