GET3 guided entry of tail-anchored proteins factor 3, ATPase [Homo sapiens (human)] - Gene

Summary

Official Symbol: GET3provided by HGNC
Official Full Name: guided entry of tail-anchored proteins factor 3, ATPaseprovided by HGNC
Primary source: HGNC:HGNC:752
See related: Ensembl:ENSG00000198356 MIM:601913; AllianceGenome:HGNC:752
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARSA1; ASNA1; CMD2H; TRC40; ARSA-I; ASNA-I
Summary: This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in kidney (RPKM 39.3), thyroid (RPKM 34.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12737106..12748323)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (12861599..12872815)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (12847920..12859137)

Chromosome 19 - NC_000019.10 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?

Golgi-resident tail-anchored proteins such as the golgins golgin-84, CASP and giantin as well as the vesicle-associated membrane-protein-associated proteins VAPA and VAPB interact with TRC40.
Title: A trap mutant reveals the physiological client spectrum of TRC40.
Mutation in ASNA1 cause severe pediatric cardiomyopathy and early death.
Title: Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.
The authors conclude that the TRC40 pathway is critical for hearing and propose that otoferlin is an essential substrate of this pathway in hair cells.
Title: Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing.
Asna1/TRC40 is required at a late step of herpes simplex virus type 1 infection for efficient release of mature virions to the extracellular milieu.
Title: Asna1/TRC40 that mediates membrane insertion of tail-anchored proteins is required for efficient release of Herpes simplex virus 1 virions.
reveal unanticipated complexity in the mutual regulation of the TRC40 receptor subunits and raise the question as to the role of the excess CAML in the endoplasmic reticulum
Title: Tail-anchored Protein Insertion in Mammals: FUNCTION AND RECIPROCAL INTERACTIONS OF THE TWO SUBUNITS OF THE TRC40 RECEPTOR.
Emerin interacts with TRC40 in situ.
Title: Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane.
The repertoire of VAPB interactors is more diverse than previously anticipated and link VAPB to the function of ATPase complexes such as p97/FAF1 and ASNA1/transmembrane-domain recognition complex.
Title: VAPB/ALS8 interacts with FFAT-like proteins including the p97 cofactor FAF1 and the ASNA1 ATPase.
Proteins bind to TRC40 and can utilise this component for their delivery to the ER membrane.
Title: TRC40 can deliver short secretory proteins to the Sec61 translocon.
PEX19 formed a complex with the peroxisomal tail anchored protein PEX26 in the cytosol and translocated it directly to peroxisomes by a TRC40-independent class I pathway.
Title: Tail-anchored PEX26 targets peroxisomes via a PEX19-dependent and TRC40-independent class I pathway.
Results indicate calcium-modulating cyclophilin ligand (CAML) and WRB as components of the TRC40 receptor complex and a crucial mechanism for driving ER membrane insertion of TA proteins in mammalian cells.
Title: Molecular machinery for insertion of tail-anchored membrane proteins into the endoplasmic reticulum membrane in mammalian cells.

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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
Cardiomyopathy, dilated, 2H MedGen: C5774296 OMIM: 620203 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of arsA arsenite transporter, ATP-binding, homolog 1 (ASNA1) in the nucleoli of Jurkat T-cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-H08525 (e-PCR)
- UniSTS:12040

G67558 (e-PCR)
- UniSTS:207000

G67559 (e-PCR)
- UniSTS:207001

RH70684 (e-PCR)
- UniSTS:32414

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables arsenite transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables membrane insertase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in arsenite transport	IEA Inferred from Electronic Annotation more info
involved_in protein insertion into ER membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in tail-anchored membrane protein insertion into ER membrane	IBA Inferred from Biological aspect of Ancestor more info
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

Component	Evidence Code	Pubs
part_of GET complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GET complex	IDA Inferred from Direct Assay more info	PubMed
part_of GET complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA 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: ATPase GET3

Names: arsA arsenite transporter, ATP-binding, homolog 1; golgi to ER traffic 3 homolog; transmembrane domain recognition complex 40 kDa ATPase subunit

NP_001358417.1

EC 7.3.2.7

NP_001358418.1

EC 7.3.2.7

NP_004308.2

EC 7.3.2.7

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.

Genomic

NG_051267.1 RefSeqGene

Range

5039..15865

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001371488.1 → NP_001358417.1 ATPase GET3

Status: REVIEWED

Description

Transcript Variant: Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC018761

Consensus CDS

CCDS32920.1

UniProtKB/Swiss-Prot

A6NHP8, A8K740, O43681, Q53FC6, Q92849

UniProtKB/TrEMBL

B4DEE5

Conserved Domains (1) summary

pfam02374
Location:37 → 340

ArsA_ATPase; Anion-transporting ATPase
NM_001371489.1 → NP_001358418.1 ATPase GET3

Status: REVIEWED

Description

Transcript Variant: Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC018761

Consensus CDS

CCDS32920.1

UniProtKB/Swiss-Prot

A6NHP8, A8K740, O43681, Q53FC6, Q92849

UniProtKB/TrEMBL

B4DEE5

Related

ENSP00000466379.1, ENST00000591090.5

Conserved Domains (1) summary

pfam02374
Location:37 → 340

ArsA_ATPase; Anion-transporting ATPase
NM_004317.4 → NP_004308.2 ATPase GET3

See identical proteins and their annotated locations for NP_004308.2

Status: REVIEWED

Description

Transcript Variant: Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

BC002651, BM718941

Consensus CDS

CCDS32920.1

UniProtKB/Swiss-Prot

A6NHP8, A8K740, O43681, Q53FC6, Q92849

UniProtKB/TrEMBL

B4DEE5

Related

ENSP00000349887.3, ENST00000357332.8

Conserved Domains (1) summary

pfam02374
Location:37 → 340

ArsA_ATPase; Anion-transporting ATPase