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

rsidPosition (GRCh37)AllelesClassClinVar
rs286048212:57,105,938A/T——
rs478812:57,106,660A/Gsynonymous variant—
rs75310489312:57,107,386T/C—uncertain significance
rs20063498612:57,107,412C/T—uncertain significance
rs254786719812:57,109,682T/C—uncertain significance
rs86771752712:57,109,742C/T—uncertain significance
rs136996570012:57,109,757C/T—uncertain significance
rs97544501412:57,109,777G/A—uncertain significance
rs117448149312:57,109,787G/C—uncertain significance
rs13880325912:57,109,830G/C—likely benign
rs254786752412:57,109,910G/A—uncertain significance
rs254786760112:57,109,966G/C—uncertain significance
rs14932626812:57,109,979C/T—uncertain significance
rs18382803212:57,110,000G/A—benign
rs254786983512:57,111,528C/T—likely benign
rs292674612:57,111,705G/A—likely benign
rs159231618512:57,111,864T/A—likely benign
rs55803837512:57,111,932T/Gregulatory region variant—
rs5866814512:57,111,948G/Tregulatory region variant—
rs76819912312:57,112,044T/G—likely benign
rs77641245012:57,112,317A/G—likely benign
rs125301474312:57,112,422T/C—likely benign
rs76693991612:57,112,455G/A—likely benign
rs76359846212:57,113,351G/A—uncertain significance
rs20094265512:57,113,552C/G—uncertain significance
rs254787250412:57,113,572T/C—uncertain significance
rs195352217712:57,113,659G/A—uncertain significance
rs37606259512:57,113,767T/C—uncertain significance
rs254787277212:57,113,779G/T—uncertain significance
rs138408040612:57,113,801C/T—uncertain significance
rs129461432912:57,113,804G/A—uncertain significance
rs1183449812:57,113,845G/C—benign
rs76639876412:57,113,954T/C—uncertain significance
rs195353148412:57,113,966C/T—uncertain significance
rs94579083012:57,113,977G/T—uncertain significance
rs292674312:57,114,100A/G—benign
rs53686974712:57,114,188C/G—uncertain significance
rs76090321512:57,114,199G/A—uncertain significance
rs20190034812:57,114,203C/T—uncertain significance
rs145131958612:57,114,212G/C—uncertain significance
rs123728470812:57,114,265T/C—uncertain significance
rs129753640712:57,114,272C/A—uncertain significance
rs77754876212:57,114,286T/C—uncertain significance
rs75866151512:57,114,288A/T—uncertain significance
rs125302092512:57,114,350G/C—uncertain significance
rs76205473012:57,114,367G/T—uncertain significance
rs254787345812:57,114,419G/T—uncertain significance
rs76882232912:57,114,436G/A—likely benign
rs133364576012:57,114,451G/T—uncertain significance
rs20074085412:57,114,563T/C—likely benign
rs20010479912:57,114,588A/G—benign
rs20125932212:57,114,695A/G—uncertain significance
rs20191360912:57,114,889A/C—uncertain significance
rs254787413812:57,114,931T/C—uncertain significance
rs126183326112:57,114,944C/T—likely benign
rs254787419412:57,114,985G/C—uncertain significance
rs89068411212:57,115,003G/A—uncertain significance
rs54118575712:57,115,168C/G—uncertain significance
rs18729385712:57,115,175G/A—uncertain significance
rs74787020912:57,115,228G/C—uncertain significance
rs36787559512:57,115,232T/G—uncertain significance
rs57040697012:57,115,234G/A—uncertain significance
rs195365758012:57,118,283G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.

NACA — nascent polypeptide associated complex subunit alpha