Aliases for GET1 Gene
External Ids for GET1 Gene
Previous HGNC Symbols for GET1 Gene
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]
GeneCards Summary for GET1 Gene
GET1 (Guided Entry Of Tail-Anchored Proteins Factor 1) is a Protein Coding gene. Diseases associated with GET1 include Vagus Nerve Disease and Heart Disease. An important paralog of this gene is RPS3.
UniProtKB/Swiss-Prot Summary for GET1 Gene
Receptor for GET3/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane.