GET1, Official Symbol GET1provided by HGNC Official Full Name guided entry of tail-anchored proteins factor 1provided by HGNC Primary source HGNC:HGNC:12790 See related Ensembl:ENSG00000182093 MIM:602915; AllianceGenome:HGNC:12790 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WRB; CHD5 Summary This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in testis (RPKM 31.9), brain (RPKM 29.8) and 25 other tissues See more Orthologs mouse all