NACA
nascent polypeptide associated complex subunit alpha
Summary
This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2860482 | 12:57,105,938 | A/T | — | — |
| rs4788 | 12:57,106,660 | A/G | synonymous variant | — |
| rs753104893 | 12:57,107,386 | T/C | — | uncertain significance |
| rs200634986 | 12:57,107,412 | C/T | — | uncertain significance |
| rs2547867198 | 12:57,109,682 | T/C | — | uncertain significance |
| rs867717527 | 12:57,109,742 | C/T | — | uncertain significance |
| rs1369965700 | 12:57,109,757 | C/T | — | uncertain significance |
| rs975445014 | 12:57,109,777 | G/A | — | uncertain significance |
| rs1174481493 | 12:57,109,787 | G/C | — | uncertain significance |
| rs138803259 | 12:57,109,830 | G/C | — | likely benign |
| rs2547867524 | 12:57,109,910 | G/A | — | uncertain significance |
| rs2547867601 | 12:57,109,966 | G/C | — | uncertain significance |
| rs149326268 | 12:57,109,979 | C/T | — | uncertain significance |
| rs183828032 | 12:57,110,000 | G/A | — | benign |
| rs2547869835 | 12:57,111,528 | C/T | — | likely benign |
| rs2926746 | 12:57,111,705 | G/A | — | likely benign |
| rs1592316185 | 12:57,111,864 | T/A | — | likely benign |
| rs558038375 | 12:57,111,932 | T/G | regulatory region variant | — |
| rs58668145 | 12:57,111,948 | G/T | regulatory region variant | — |
| rs768199123 | 12:57,112,044 | T/G | — | likely benign |
| rs776412450 | 12:57,112,317 | A/G | — | likely benign |
| rs1253014743 | 12:57,112,422 | T/C | — | likely benign |
| rs766939916 | 12:57,112,455 | G/A | — | likely benign |
| rs763598462 | 12:57,113,351 | G/A | — | uncertain significance |
| rs200942655 | 12:57,113,552 | C/G | — | uncertain significance |
| rs2547872504 | 12:57,113,572 | T/C | — | uncertain significance |
| rs1953522177 | 12:57,113,659 | G/A | — | uncertain significance |
| rs376062595 | 12:57,113,767 | T/C | — | uncertain significance |
| rs2547872772 | 12:57,113,779 | G/T | — | uncertain significance |
| rs1384080406 | 12:57,113,801 | C/T | — | uncertain significance |
| rs1294614329 | 12:57,113,804 | G/A | — | uncertain significance |
| rs11834498 | 12:57,113,845 | G/C | — | benign |
| rs766398764 | 12:57,113,954 | T/C | — | uncertain significance |
| rs1953531484 | 12:57,113,966 | C/T | — | uncertain significance |
| rs945790830 | 12:57,113,977 | G/T | — | uncertain significance |
| rs2926743 | 12:57,114,100 | A/G | — | benign |
| rs536869747 | 12:57,114,188 | C/G | — | uncertain significance |
| rs760903215 | 12:57,114,199 | G/A | — | uncertain significance |
| rs201900348 | 12:57,114,203 | C/T | — | uncertain significance |
| rs1451319586 | 12:57,114,212 | G/C | — | uncertain significance |
| rs1237284708 | 12:57,114,265 | T/C | — | uncertain significance |
| rs1297536407 | 12:57,114,272 | C/A | — | uncertain significance |
| rs777548762 | 12:57,114,286 | T/C | — | uncertain significance |
| rs758661515 | 12:57,114,288 | A/T | — | uncertain significance |
| rs1253020925 | 12:57,114,350 | G/C | — | uncertain significance |
| rs762054730 | 12:57,114,367 | G/T | — | uncertain significance |
| rs2547873458 | 12:57,114,419 | G/T | — | uncertain significance |
| rs768822329 | 12:57,114,436 | G/A | — | likely benign |
| rs1333645760 | 12:57,114,451 | G/T | — | uncertain significance |
| rs200740854 | 12:57,114,563 | T/C | — | likely benign |
| rs200104799 | 12:57,114,588 | A/G | — | benign |
| rs201259322 | 12:57,114,695 | A/G | — | uncertain significance |
| rs201913609 | 12:57,114,889 | A/C | — | uncertain significance |
| rs2547874138 | 12:57,114,931 | T/C | — | uncertain significance |
| rs1261833261 | 12:57,114,944 | C/T | — | likely benign |
| rs2547874194 | 12:57,114,985 | G/C | — | uncertain significance |
| rs890684112 | 12:57,115,003 | G/A | — | uncertain significance |
| rs541185757 | 12:57,115,168 | C/G | — | uncertain significance |
| rs187293857 | 12:57,115,175 | G/A | — | uncertain significance |
| rs747870209 | 12:57,115,228 | G/C | — | uncertain significance |
| rs367875595 | 12:57,115,232 | T/G | — | uncertain significance |
| rs570406970 | 12:57,115,234 | G/A | — | uncertain significance |
| rs1953657580 | 12:57,118,283 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.