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

Tissue specificity

Low tissue specificity

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

21 (39377698 - 39428528)

Ensembl ID

ENSG00000182093  (ver. 103.38)

Orthologs

-

UniProt

O00258

neXtProt

NX_O00258

Human splice variants

Protein structure