GET3 (guided entry of tail-anchored proteins factor 3, ATPase)

Gene

• Entrez ID: 439
• Gene name: Guided entry of tail-anchored proteins factor 3, ATPase
• Gene symbol: GET3
• Synonyms (NCBI Gene): ARSA-I, ARSA1, ASNA-I, ASNA1, CMD2H, TRC40
• Chromosome: 19
• Chromosome location: 19p13.13
• 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 (

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 21911467, 25416956, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	TAS	9736449
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9736449
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	32910895
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	32910895
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IDA	8884272, 9712828
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IDA	8496691, 11133832, 19201886
GO:0032977	Function	Membrane insertase activity	IDA	23610396
GO:0043529	Component	GET complex	IBA
GO:0043529	Component	GET complex	IDA	32910895
GO:0043529	Component	GET complex	IEA
GO:0043529	Component	GET complex	IPI	23041287, 32910895
GO:0045048	Process	Protein insertion into ER membrane	IEA
GO:0045048	Process	Protein insertion into ER membrane	NAS	23041287
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IBA
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IDA	25535373
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IEA
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IMP	23041287, 31461301

Other IDs

• MIM: 601913
• HGNC: 752
• e!Ensembl: ENSG00000198356

Protein

• UniProt ID: O43681
• Protein name: ATPase GET3 (EC 3.6.4.-) (Arsenical pump-driving ATPase) (Arsenite-stimulated ATPase) (Guided entry of tail-anchored proteins factor 3, ATPase) (Transmembrane domain recognition complex 40 kDa ATPase subunit) (hARSA-I) (hASNA-I)
• Protein function: ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (PubMed:17382883). Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets
• PDB: 6SO5, 8CQZ, 8CR1, 8CR2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02374	ArsA_ATPase	37 → 340	Anion-transporting ATPase	Domain

• Tissue specificity: 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. {ECO:0000269|PubMed:9774623}.
• Sequence:

  MAAGVAGWGVEAEEFEDAPDVEPLEPTLSNIIEQRSLKWIFVGGKGGVGKTTCSCSLAVQ
  LSKGRESVLIISTDPAHNISDAFDQKFSKVPTKVKGYDNLFAMEIDPSLGVAELPDEFFE
  EDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGMNFSVVVFDTAPTGHTLRLLNFP
  TIVERGLGRLMQIKNQISPFISQMCNMLGLGDMNADQLASKLEETLPVIRSVSEQFKDPE
  QTTFICVCIAEFLSLYETERLIQELAKCKIDTHNIIVNQLVFPDPEKPCKMCEARHKIQA
  KYLDQMEDLYEDFHIVKLPLLPHEVRGADKVNTFSALLLEPYKPPSAQ

• Sequence length: 348

Pathways

KEGG:

Protein export

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardiomyopathy, dilated, 2H	Pathogenic	rs1568349715	RCV003152432	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Parkinson Disease	Parkinson disease	BEFREE	26362251		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26362251	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36562811	Associate	★☆☆☆☆ Found in Text Mining only