GET4 guided entry of tail-anchored proteins factor 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GET4provided by HGNC
Official Full Name: guided entry of tail-anchored proteins factor 4provided by HGNC
Primary source: HGNC:HGNC:21690
See related: Ensembl:ENSG00000239857 MIM:612056; AllianceGenome:HGNC:21690
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CEE; CDG2Y; TRC35; CGI-20; C7orf20
Summary: Enables protein-folding chaperone binding activity. Involved in several processes, including cytoplasmic sequestering of protein; establishment of protein localization to membrane; and proteolysis involved in protein catabolic process. Located in chromosome; cytosol; and nuclear lumen. Part of BAT3 complex. Implicated in congenital disorder of glycosylation type II. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 20.0), adrenal (RPKM 15.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (876554..896436)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (979673..1000202)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (916191..936073)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GET4 is a novel driver gene in colorectal cancer that regulates the localization of BAG6, a nucleocytoplasmic shuttling protein.
Title: GET4 is a novel driver gene in colorectal cancer that regulates the localization of BAG6, a nucleocytoplasmic shuttling protein.
Both TRC35 and Ubl4A have distinct C-terminal binding sites on Bag6 defining a minimal Bag6 complex.
Title: Bag6 complex contains a minimal tail-anchor-targeting module and a mock BAG domain.
The crystal structure of the Get3-Get4-Get5 complex in an ATP-bound state is presented.
Title: Crystal structure of ATP-bound Get3-Get4-Get5 complex reveals regulation of Get3 by Get4.
Data indicate that BCL2-associated athanogene 6 (BAG6) appears to be the central component for the process, as depletion of BAG6 leads to the loss of both UBL4A and GET4 proteins and resistance to cell killing by DNA-damaging agents.
Title: Nuclear BAG6-UBL4A-GET4 complex mediates DNA damage signaling and cell death.
Data indicate that the Bag6-Ubl4A-Trc35 complex is localized to the endoplasmic reticulum (ER) membrane to regulate ER-associated degradation (ERAD).
Title: A ubiquitin-like domain recruits an oligomeric chaperone to a retrotranslocation complex in endoplasmic reticulum-associated degradation.
SGTA recognizes a noncanonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degradation.
Title: SGTA recognizes a noncanonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degradation.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital disorder of glycosylation, type IIy MedGen: C5774294 OMIM: 620200 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A004O12 (e-PCR)
- UniSTS:56587

SHGC-64038 (e-PCR)
- UniSTS:53102

RH12698 (e-PCR)
- UniSTS:3199

A004D11 (e-PCR)
- UniSTS:33214

G65486 (e-PCR)
- UniSTS:166591

SHGC-146602 (e-PCR)
- UniSTS:175319

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic sequestering of protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of unfolded protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-translational protein targeting to endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein insertion into ER membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein insertion into ER membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein stability	IDA Inferred from Direct Assay more info	PubMed
involved_in tail-anchored membrane protein insertion into ER membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in tail-anchored membrane protein insertion into ER membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of BAT3 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BAT3 complex	IDA Inferred from Direct Assay more info	PubMed
part_of BAT3 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: Golgi to ER traffic protein 4 homolog

Names: H_NH1244M04.5; conserved edge expressed protein; conserved edge protein; golgi to ER traffic protein 4; transmembrane domain recognition complex 35 kDa subunit; transmembrane domain recognition complex, 35kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.