NPC1L1
NPC1 like intracellular cholesterol transporter 1
Summary
The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Known Variants123 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751572189 | 7:44,553,056 | C/T | — | likely benign |
| rs755084966 | 7:44,553,057 | G/A | — | uncertain significance |
| rs775025237 | 7:44,553,112 | A/C | — | uncertain significance |
| rs217435 | 7:44,553,204 | C/T | — | benign |
| rs147377945 | 7:44,553,233 | G/A | — | uncertain significance |
| rs217434 | 7:44,553,238 | A/G | synonymous variant | benign |
| rs201187589 | 7:44,553,240 | C/T | — | likely benign |
| rs10264715 | 7:44,555,406 | G/A | — | benign |
| rs115281590 | 7:44,555,421 | G/A | — | likely benign |
| rs760656359 | 7:44,555,468 | G/C | — | uncertain significance |
| rs148506506 | 7:44,555,510 | C/A | — | uncertain significance |
| rs217428 | 7:44,555,573 | T/G | regulatory region variant | benign |
| rs52815063 | 7:44,555,699 | A/T | missense variant | drug response |
| rs528352114 | 7:44,556,303 | G/A | — | uncertain significance |
| rs895973476 | 7:44,556,367 | T/C | — | uncertain significance |
| rs552498840 | 7:44,556,475 | G/T | — | uncertain significance |
| rs116716160 | 7:44,556,509 | C/G | — | likely benign |
| rs778181734 | 7:44,556,832 | G/T | — | uncertain significance |
| rs79519744 | 7:44,556,834 | C/A | — | uncertain significance |
| rs767626455 | 7:44,556,890 | G/C | — | uncertain significance |
| rs115395682 | 7:44,556,893 | C/T | — | benign |
| rs7799594 | 7:44,558,217 | G/A | — | uncertain significance |
| rs1316277525 | 7:44,558,224 | T/C | — | uncertain significance |
| rs1480810950 | 7:44,558,247 | G/A | — | uncertain significance |
| rs879253392 | 7:44,558,260 | C/T | — | uncertain significance |
| rs750811960 | 7:44,558,261 | T/C | — | likely benign |
| rs763260628 | 7:44,560,399 | G/A | — | uncertain significance |
| rs1060499885 | 7:44,560,414 | A/T | — | uncertain significance |
| rs539209049 | 7:44,560,419 | G/A | — | likely benign |
| rs147519851 | 7:44,560,582 | C/T | — | benign |
| rs1350093442 | 7:44,561,313 | A/T | — | uncertain significance |
| rs149782907 | 7:44,561,344 | G/A | — | benign |
| rs747414035 | 7:44,561,355 | T/A | — | uncertain significance |
| rs767278488 | 7:44,561,370 | G/A | — | uncertain significance |
| rs150891392 | 7:44,561,702 | T/C | — | uncertain significance |
| rs2484295846 | 7:44,561,794 | C/G | — | uncertain significance |
| rs114239819 | 7:44,561,806 | G/A | — | benign |
| rs4720470 | 7:44,561,884 | C/T | intron variant | drug response |
| rs11763759 | 7:44,570,067 | T/C | intron variant | drug response |
| rs765685520 | 7:44,571,364 | G/T | — | uncertain significance |
| rs2301935 | 7:44,571,460 | T/A | — | — |
| rs143681066 | 7:44,571,712 | G/C | — | likely benign |
| rs114374279 | 7:44,571,721 | A/G | — | benign |
| rs149085235 | 7:44,571,741 | G/A | — | uncertain significance |
| rs564692338 | 7:44,571,756 | C/T | — | uncertain significance |
| rs113377432 | 7:44,571,763 | A/C | — | benign |
| rs151211428 | 7:44,571,767 | G/A | — | likely benign |
| rs751528275 | 7:44,571,779 | T/C | — | likely benign |
| rs748272080 | 7:44,571,810 | G/A | — | uncertain significance |
| rs1340269959 | 7:44,573,407 | G/C | — | uncertain significance |
| rs754960204 | 7:44,573,412 | A/G | — | uncertain significance |
| rs757828392 | 7:44,574,066 | T/C | — | uncertain significance |
| rs770897966 | 7:44,574,134 | C/T | — | uncertain significance |
| rs2484336379 | 7:44,574,155 | A/C | — | uncertain significance |
| rs2484336664 | 7:44,574,191 | G/A | — | uncertain significance |
| rs373560573 | 7:44,574,215 | G/A | — | uncertain significance |
| rs2484336930 | 7:44,574,216 | C/T | — | uncertain significance |
| rs115464778 | 7:44,575,487 | C/T | — | likely benign |
| rs750385390 | 7:44,575,500 | A/G | — | uncertain significance |
| rs373091710 | 7:44,575,563 | G/A | — | uncertain significance |
| rs1183815017 | 7:44,575,566 | C/A | — | uncertain significance |
| rs145554241 | 7:44,575,863 | T/C | — | uncertain significance |
| rs200753260 | 7:44,575,892 | C/T | — | uncertain significance |
| rs202127286 | 7:44,575,896 | G/A | — | uncertain significance |
| rs536539929 | 7:44,575,920 | A/C | — | uncertain significance |
| rs377514672 | 7:44,575,956 | G/A | — | uncertain significance |
| rs143082401 | 7:44,575,987 | G/A | — | likely benign |
| rs200336622 | 7:44,576,021 | T/C | — | uncertain significance |
| rs1001839909 | 7:44,576,446 | T/C | — | uncertain significance |
| rs1305808444 | 7:44,576,477 | G/T | — | uncertain significance |
| rs2484348133 | 7:44,576,509 | A/G | — | uncertain significance |
| rs1376703649 | 7:44,578,431 | A/C | — | uncertain significance |
| rs35803101 | 7:44,578,500 | G/A | missense variant | — |
| rs79573011 | 7:44,578,503 | C/T | — | uncertain significance |
| rs201421514 | 7:44,578,579 | C/T | — | uncertain significance |
| rs1043056592 | 7:44,578,581 | T/C | — | uncertain significance |
| rs377561588 | 7:44,578,588 | T/C | — | uncertain significance |
| rs148541253 | 7:44,578,622 | C/T | — | likely benign |
| rs1181629807 | 7:44,578,740 | C/A | — | uncertain significance |
| rs536660131 | 7:44,578,746 | C/T | — | uncertain significance |
| rs139659653 | 7:44,578,747 | G/A | — | likely benign |
| rs145297799 | 7:44,578,780 | G/A | stop gained | association |
| rs746472384 | 7:44,578,783 | A/G | — | uncertain significance |
| rs549357298 | 7:44,578,870 | T/A | — | uncertain significance |
| rs148859805 | 7:44,578,885 | C/A | — | uncertain significance |
| rs200072878 | 7:44,578,893 | G/A | — | uncertain significance |
| rs200584876 | 7:44,578,911 | G/A | — | likely benign |
| rs760837609 | 7:44,578,917 | A/G | — | uncertain significance |
| rs143494404 | 7:44,578,918 | C/T | — | benign |
| rs148399787 | 7:44,578,937 | C/G | — | likely benign |
| rs532138607 | 7:44,578,958 | C/T | — | likely benign |
| rs1340608510 | 7:44,578,959 | G/A | — | uncertain significance |
| rs2484358861 | 7:44,579,014 | T/C | — | uncertain significance |
| rs199802741 | 7:44,579,017 | C/T | — | uncertain significance |
| rs145167295 | 7:44,579,062 | C/G | — | uncertain significance |
| rs79803700 | 7:44,579,068 | C/A | — | benign |
| rs372913370 | 7:44,579,150 | C/T | — | likely benign |
| rs570409961 | 7:44,579,171 | G/A | — | likely benign |
| rs138140250 | 7:44,579,179 | C/A | — | benign |
| rs2072183 | 7:44,579,180 | G/C | synonymous variant | drug response |
Showing 100 of 123 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.