GET1 (Guided Entry of Tail-Anchored Proteins Factor 1)
A key component of the GET pathway for tail-anchored protein insertion into the endoplasmic reticulum membrane.
Gene Information Card
| Symbol | GET1 |
|---|---|
| Full Name | Guided Entry of Tail-Anchored Proteins Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.13 |
| NCBI Gene ID | 54331 ncbi.nlm.nih.gov/gene/54331 |
| Ensembl ID | ENSG00000160209 |
| UniProt ID | O14787 |
| OMIM ID | 604039 |
| HGNC ID | 12776 |
| Aliases | WRB, CHD5 |
Description
GET1 (Guided Entry of Tail-Anchored Proteins Factor 1), also known as WRB, is a transmembrane protein that forms part of the GET complex. It is essential for the post-translational insertion of tail-anchored (TA) proteins into the endoplasmic reticulum (ER) membrane. GET1 interacts with GET2 to form the ER membrane receptor for the GET3-TA protein complex, facilitating TA protein release and integration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIn | Impaired TA protein insertion leads to ER stress and glycosylation defects | PMID: 32376990 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Loss-of-function mutations in GET1 disrupt TA protein targeting, affecting neurodevelopment | ClinVar: VCV000599802 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98Trp) | Missense | Rare | Loss of function; disrupts GET1-GET2 interaction |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no protein translation |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, impairing TA protein insertion and causing ER stress.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • tail-anchored membrane protein insertion into ER membrane (GO:0071816) | • endoplasmic reticulum (GO:0005783) |
| • GET complex (GO:0043529) | • integral component of membrane (GO:0016021) |
Pathways
• GET pathway (tail-anchored protein insertion)
Protein Summary
GET1 is a 167-amino acid transmembrane protein with two predicted transmembrane domains. It localizes to the ER membrane and forms a heterodimeric receptor with GET2. This receptor captures the GET3-TA protein complex and promotes ATP hydrolysis by GET3, leading to TA protein release and membrane insertion. GET1 is ubiquitously expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
