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

Gene ID: 439, updated on 7-Apr-2024

Summary

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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
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Genomic context

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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_000019.10Genomic Context describing neighboring genes Neighboring gene transportin 2 Neighboring gene small nucleolar RNA, C/D box 41 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10158 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12832661-12833279 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12833280-12833897 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12833898-12834516 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12834517-12835133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12842300-12842847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10161 Neighboring gene CRISPRi-FlowFISH-validated RAD23A regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated TRIR regulatory element Neighboring gene telomerase RNA component interacting RNase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12855878-12856378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10166 Neighboring gene bestrophin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12876343-12876888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12881756-12882256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12882257-12882757 Neighboring gene hook microtubule tethering protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12885288-12885968 Neighboring gene CRISPRi-FlowFISH-validated DNASE2 and PRDX2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14077 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated JUNB and PRDX2 regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated JUNB and PRDX2 regulatory element 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14078 Neighboring gene microRNA 5684

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A trap mutant reveals the physiological client spectrum of TRC40. Coy-Vergara J, et al. J Cell Sci, 2019 Jul 1. PMID 31182645, Free PMC Article
  2. Asna1/TRC40 that mediates membrane insertion of tail-anchored proteins is required for efficient release of Herpes simplex virus 1 virions. Ott M, et al. Virol J, 2016 Oct 20. PMID 27765046, Free PMC Article
  3. Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. Pfaff J, et al. J Cell Sci, 2016 Feb 1. PMID 26675233
  4. Post-translational membrane insertion of tail-anchored transmembrane EF-hand Ca2+ sensor calneurons requires the TRC40/Asna1 protein chaperone. Hradsky J, et al. J Biol Chem, 2011 Oct 21. PMID 21878631, Free PMC Article
  5. Asna1/TRC40-mediated membrane insertion of tail-anchored proteins. Favaloro V, et al. J Cell Sci, 2010 May 1. PMID 20375064

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Emerin interacts with TRC40 in situ.
    Title: Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (18)

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)

Genotypes

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

Clone Names

  • MGC3821

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 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
NP_001358418.1
NP_004308.2

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

  1. NG_051267.1 RefSeqGene

    Range
    5039..15865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    12737106..12748323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    12861599..12872815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43681.2 GenPept UniProtKB/Swiss-Prot:O43681

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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