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 cy... See more...

Aliases for GET3 Gene

Aliases for GET3 Gene

  • Guided Entry Of Tail-Anchored Proteins Factor 3, ATPase 2 3 4 5
  • TRC40 2 3 4
  • Transmembrane Domain Recognition Complex 40 KDa ATPase Subunit 3 4
  • ATPase GET3 3 4
  • ARSA-I 2 3
  • ASNA1 3 4
  • ArsA (Bacterial) Arsenite Transporter, ATP-Binding, Homolog 1 2
  • ArsA Arsenite Transporter, ATP-Binding, Homolog 1 3
  • Transmembrane Domain Recognition Complex, 40kDa 2
  • Golgi To ER Traffic 3 Homolog (S. Cerevisiae) 2
  • Golgi To ER Traffic 3 Homolog 3
  • Arsenical Pump-Driving ATPase 4
  • Arsenite-Stimulated ATPase 4
  • EC 3.6.3.16 51
  • EC 3.6.-.- 4
  • HARSA-I 4
  • HASNA-I 4
  • ASNA-I 3
  • ARSA1 3
  • GET3 5
  • ARSA 4

External Ids for GET3 Gene

Previous HGNC Symbols for GET3 Gene

  • ASNA1

Summaries for GET3 Gene

Entrez Gene Summary for GET3 Gene

  • 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]

GeneCards Summary for GET3 Gene

GET3 (Guided Entry Of Tail-Anchored Proteins Factor 3, ATPase) is a Protein Coding gene. Diseases associated with GET3 include Emery-Dreifuss Muscular Dystrophy and Breast Adenoma. Among its related pathways are Unfolded Protein Response (UPR) and Metabolism of proteins.

UniProtKB/Swiss-Prot Summary for GET3 Gene

  • ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the membrane-bound receptor, and returning it to the cytosol to initiate a new round of targeting (By similarity). May be involved in insulin signaling.

Gene Wiki entry for GET3 Gene

Additional gene information for GET3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GET3 Gene

Genomics for GET3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GET3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J012732 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -1.4 -1405 6.2 BRCA1 SP1 CREB1 CTCF HNRNPL ATF7 PRDM10 ZNF629 TFE3 RFX1 TRIR GET3 ZNF136 CCDC130 ZNF442 TRMT1 ZNF700 ZNF791 ZNF844 ZNF763
GH19J012757 Enhancer 1 ENCODE dbSUPER 12.6 +20.8 20757 1.1 CTCF ZNF629 NFKBIZ JUND LARP7 ZNF143 ZIC2 REST RAD21 POLR2A JUNB HOOK2 TRIR GET3 TNPO2 MAST1 RNASEH2A RTBDN WDR83OS MAN2B1
GH19J012760 Enhancer 0.8 Ensembl ENCODE 12.6 +23.6 23613 0.6 CTCF PRDM10 ZNF629 JUND ZNF143 PATZ1 REST IRF2 TRIM22 RAD21 MN298114-106 ZNF844 ZNF433 JUNB HOOK2 GET3 TRIR TNPO2 MAST1 ZNF442
GH19J012688 Enhancer 0.4 Ensembl 12.3 -47.5 -47505 1.6 CREB1 SP2 POLR2A ENSG00000267791 GNG14 TNPO2 TRIR GET3 ZNF490 MAN2B1 RPL10P16 MAST1 ENSG00000230310
GH19J012761 Enhancer 0.3 Ensembl 12.6 +22.8 22789 0.6 SOX6 KLF1 MN298114-106 JUNB HOOK2 GET3 TRIR TNPO2 MAST1 RNASEH2A RTBDN WDR83OS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GET3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GET3

Genomic Locations for GET3 Gene

Genomic Locations for GET3 Gene
chr19:12,737,106-12,748,323
(GRCh38/hg38)
Size:
11,218 bases
Orientation:
Plus strand
chr19:12,847,953-12,859,137
(GRCh37/hg19)
Size:
11,185 bases
Orientation:
Plus strand

Genomic View for GET3 Gene

Genes around GET3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GET3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GET3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GET3 Gene

Proteins for GET3 Gene

  • Protein details for GET3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43681-GET3_HUMAN
    Recommended name:
    ATPase GET3
    Protein Accession:
    O43681
    Secondary Accessions:
    • A6NHP8
    • A8K740
    • Q53FC6
    • Q92849

    Protein attributes for GET3 Gene

    Size:
    348 amino acids
    Molecular mass:
    38793 Da
    Quaternary structure:
    • Homodimer (By similarity). Component of a transmembrane domain recognition complex (TRC) (By similarity). Interacts with SERP1 and SEC61B (By similarity). Interacts with GET1.
    SequenceCaution:
    • Sequence=AAC50731.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for GET3 Gene

Selected DME Specific Peptides for GET3 Gene

O43681:
  • PTKVKGYDNL
  • FEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGM
  • LLLEPYKPPS
  • KLPLLPHEVRG
  • PCKMCEARHKIQ
  • IDTHNIIVNQLVFPDPEKPC
  • EFLSLYETER
  • YETERLIQ
  • NLFAMEID
  • FDTAPTGHT
  • ISTDPAHN

Post-translational modifications for GET3 Gene

  • Ubiquitination at Lys156 and Lys317
  • Modification sites at PhosphoSitePlus

Other Protein References for GET3 Gene

Domains & Families for GET3 Gene

Protein Domains for GET3 Gene

InterPro:
Blocks:
  • Anion-transporting ATPase
ProtoNet:

Suggested Antigen Peptide Sequences for GET3 Gene

GenScript: Design optimal peptide antigens:
  • hASNA-I (ASNA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43681

UniProtKB/Swiss-Prot:

GET3_HUMAN :
  • Belongs to the arsA ATPase family.
Family:
  • Belongs to the arsA ATPase family.
genes like me logo Genes that share domains with GET3: view

Function for GET3 Gene

Molecular function for GET3 Gene

UniProtKB/Swiss-Prot Function:
ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the membrane-bound receptor, and returning it to the cytosol to initiate a new round of targeting (By similarity). May be involved in insulin signaling.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.22 mM for ATP {ECO:0000269|PubMed:9712828}; Vmax=16.6 nmol/min/mg enzyme for ATP {ECO:0000269|PubMed:9712828};

Enzyme Numbers (IUBMB) for GET3 Gene

Gene Ontology (GO) - Molecular Function for GET3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 21516116
GO:0005524 ATP binding IEA --
GO:0015105 arsenite transmembrane transporter activity TAS 8884272
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GET3: view
genes like me logo Genes that share phenotypes with GET3: view

Animal Models for GET3 Gene

MGI Knock Outs for GET3:
  • Get3 Get3<tm1Hbha>

Animal Model Products

  • Taconic Biosciences Mouse Models for GET3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GET3

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GET3 Gene

Localization for GET3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GET3 Gene

Cytoplasm. Endoplasmic reticulum. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GET3 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
extracellular 4
cytosol 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
plasma membrane 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GET3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus TAS,IDA --
GO:0005737 cytoplasm TAS 9736449
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with GET3: view

Pathways & Interactions for GET3 Gene

genes like me logo Genes that share pathways with GET3: view

Gene Ontology (GO) - Biological Process for GET3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006620 posttranslational protein targeting to endoplasmic reticulum membrane IBA 21873635
GO:0015700 arsenite transport IEA --
GO:0036498 IRE1-mediated unfolded protein response TAS --
GO:0045048 protein insertion into ER membrane IEA --
GO:0071816 tail-anchored membrane protein insertion into ER membrane IDA 25535373
genes like me logo Genes that share ontologies with GET3: view

No data available for SIGNOR curated interactions for GET3 Gene

Drugs & Compounds for GET3 Gene

(1) Drugs for GET3 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation, Target 0

(4) Additional Compounds for GET3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
arsenite
  • [As(OH)3]
  • Arsenic trioxide
  • Arsorous acid
  • As(OH)3
  • H3AsO3
15502-74-6
Arsenic
  • As(3+)
  • Arsen
  • Arsenic black
  • Arsenic elemental
  • As
7440-38-2
genes like me logo Genes that share compounds with GET3: view

Transcripts for GET3 Gene

mRNA/cDNA for GET3 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GET3

Alternative Splicing Database (ASD) splice patterns (SP) for GET3 Gene

No ASD Table

Relevant External Links for GET3 Gene

GeneLoc Exon Structure for
GET3

Expression for GET3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GET3

SOURCE GeneReport for Unigene cluster for GET3 Gene:

Hs.465985

mRNA Expression by UniProt/SwissProt for GET3 Gene:

O43681-GET3_HUMAN
Tissue specificity: Expressed in the epithelial cells of the liver, kidney, and stomach wall, in the adrenal medulla, in the islet cells of the pancreas, in the red pulp of the spleen, and in cardiac and skeletal muscle.

Evidence on tissue expression from TISSUES for GET3 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Skin(3.4)
  • Muscle(3)
  • Kidney(3)
  • Heart(2.4)
  • Intestine(2.4)
  • Blood(2.2)
  • Lung(2.2)
  • Pancreas(2.1)
  • Eye(2.1)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GET3 Gene

Orthologs for GET3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GET3 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia -- 31
  • 100 (a)
OneToMany
-- 31
  • 94 (a)
OneToMany
ASNA1 30
  • 93.01 (n)
Chimpanzee
(Pan troglodytes)
Mammalia ASNA1 30 31
  • 99.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASNA1 31
  • 99 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASNA1 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ASNA1 30 31
  • 92.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Asna1 30 31
  • 90.52 (n)
OneToOne
Get3 17
Rat
(Rattus norvegicus)
Mammalia Asna1 30
  • 90.13 (n)
Chicken
(Gallus gallus)
Aves ASNA1 31
  • 97 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ASNA1 31
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia asna1 30
  • 80.65 (n)
Str.11846 30
Zebrafish
(Danio rerio)
Actinopterygii asna1 30 31
  • 82.68 (n)
OneToOne
zgc56540 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG1598 30 31
  • 70.64 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ASNA_ANOGA 30
  • 68.82 (n)
Worm
(Caenorhabditis elegans)
Secernentea asna-1 30 31
  • 56.35 (n)
OneToMany
asna-2 31
  • 32 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR285W 30
  • 55.83 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GET3 30 31 33
  • 51.96 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01497g 30
  • 51.76 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G01910 30
  • 56.86 (n)
Soybean
(Glycine max)
eudicotyledons Gma.10970 30
Rice
(Oryza sativa)
Liliopsida Os09g0521500 30
  • 57.71 (n)
Os.15713 30
Corn
(Zea mays)
Liliopsida Zm.5442 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 63 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU06717 30
  • 59.82 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes get3 30
  • 54.52 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8413 30
Species where no ortholog for GET3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GET3 Gene

ENSEMBL:
Gene Tree for GET3 (if available)
TreeFam:
Gene Tree for GET3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GET3: view image

Paralogs for GET3 Gene

Pseudogenes.org Pseudogenes for GET3 Gene

genes like me logo Genes that share paralogs with GET3: view

No data available for Paralogs for GET3 Gene

Variants for GET3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GET3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs864622036 Uncertain Significance: Malignant tumor of prostate 12,738,573(+) C/G MISSENSE_VARIANT
rs8177499 - p.Asn332Ser

Additional dbSNP identifiers (rs#s) for GET3 Gene

Structural Variations from Database of Genomic Variants (DGV) for GET3 Gene

Variant ID Type Subtype PubMed ID
dgv138n111 CNV deletion 26073780
esv3643712 CNV loss 21293372
nsv1160586 CNV duplication 26073780
nsv953977 CNV deletion 24416366

Variation tolerance for GET3 Gene

Residual Variation Intolerance Score: 29.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GET3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GET3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GET3 Gene

Disorders for GET3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GET3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
emery-dreifuss muscular dystrophy
  • muscular dystrophy, tardive, dreifuss-emery type, with contractures
breast adenoma
  • ademoma - breast
zellweger syndrome
  • zs
- elite association - COSMIC cancer census association via MalaCards
Search GET3 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with GET3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GET3 Gene

Publications for GET3 Gene

  1. Isolation of the ATP-binding human homolog of the arsA component of the bacterial arsenite transporter. (PMID: 8884272) Kurdi-Haidar B … Howell SB (Genomics 1996) 2 3 4 23
  2. Identification of a targeting factor for posttranslational membrane protein insertion into the ER. (PMID: 17382883) Stefanovic S … Hegde RS (Cell 2007) 2 3 4
  3. Biochemical characterization of the human arsenite-stimulated ATPase (hASNA-I). (PMID: 9712828) Kurdi-Haidar B … Howell SB (The Journal of biological chemistry 1998) 3 4 23
  4. Bag6 complex contains a minimal tail-anchor-targeting module and a mock BAG domain. (PMID: 25535373) Mock JY … Clemons WM (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 4
  5. WRB is the receptor for TRC40/Asna1-mediated insertion of tail-anchored proteins into the ER membrane. (PMID: 21444755) Vilardi F … Dobberstein B (Journal of cell science 2011) 3 4

Products for GET3 Gene

Sources for GET3 Gene