GET3 Gene - Guided Entry of Tail-Anchored Proteins Factor 3, ATPase
Comprehensive genomic and functional analysis of GET3, a key component of the tail-anchored protein insertion pathway.
Gene Information Card
| Symbol | GET3 |
|---|---|
| Full Name | Guided Entry of Tail-Anchored Proteins Factor 3, ATPase |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 439 ncbi.nlm.nih.gov/gene/439 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | O43681 |
| OMIM ID | 601913 |
| HGNC ID | 753 |
| Aliases | ASNA1, ARSA-I, TRC40, SPRY1 |
Description
GET3 (Guided Entry of Tail-Anchored Proteins Factor 3, ATPase) encodes an ATPase that is a key component of the GET pathway, responsible for the post-translational insertion of tail-anchored (TA) proteins into the endoplasmic reticulum membrane. The protein binds and targets TA proteins to the ER membrane. Mutations and altered expression of GET3 have been implicated in various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Type 2 | Impaired insulin secretion due to GET3 dysfunction affecting TA protein trafficking | PMID: 23415227 |
| Breast Cancer | Overexpression of GET3 associated with poor prognosis and chemoresistance | PMID: 25636800 |
| Colorectal Cancer | GET3 upregulation linked to tumor progression and metastasis | PMID: 27562872 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 18.5 | High |
| Liver | 12.3 | Medium |
| Kidney | 10.1 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 13.7 | High expression |
| MCF7 | 11.4 | Medium expression |
| A549 | 9.8 | Medium expression |
| K562 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | <0.01% | Reduced ATPase activity and TA protein insertion |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Impaired binding to TA proteins |
| c.763_765del (p.Lys255del) | In-frame deletion | <0.01% | Loss of function, defective ER targeting |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce ATPase activity or TA protein binding lead to loss of function in the GET pathway.
Gain of Function (GOF)
No gain-of-function mutations reported in GET3.
Dominant Negative (DN)
No dominant-negative mutations reported in GET3.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATP hydrolysis activity |
| • protein insertion into ER membrane | • tail-anchored membrane protein insertion into ER membrane |
| • endoplasmic reticulum membrane |
Pathways
• GET pathway (Guided Entry of Tail-Anchored Proteins)
• Protein processing in endoplasmic reticulum
Protein Summary
GET3 is a 348-amino acid ATPase that forms a homodimer and functions as the targeting factor for tail-anchored proteins. It binds the hydrophobic transmembrane domain of TA proteins and delivers them to the ER membrane via interaction with the GET1/GET2 receptor complex. The protein is ubiquitously expressed with highest levels in pancreas and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GET3 Knockout HEK293 Cell Line | EDJ-KQ4104 | Human | 439 | Details Get a Quote |
| GET3 Knockout A-549 Cell Line | EDJ-KQ26494 | Human | 439 | Details Get a Quote |
| GET3 Knockout HCT 116 Cell Line | EDJ-KQ26495 | Human | 439 | Details Get a Quote |
| GET3 Knockout HeLa Cell Line | EDJ-KQ26496 | Human | 439 | Details Get a Quote |
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