GET1

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]

Description

guided entry of tail-anchored proteins factor 1

Protein family

Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Peptideatlas), Transporters

Chromosome

21:q22.2 (39377698 - 39428528)

Ensembl ID

ENSG00000182093  (ver. 99.38)

Orthologs

Mouse Wrb: ENSMUSG00000023147

UniProt

O00258

neXtProt

NX_O00258

Human splice variants
Mouse splice variants