• Gene id: 439

Gene Summary

• Gene Symbol: GET3   Gene   UCSC   Ensembl
• Aliases: ARSA-I, ARSA1, ASNA-I, ASNA1, TRC40
• Gene name: guided entry of tail-anchored proteins factor 3, ATPase
• Alternate names: ATPase GET3, arsA arsenite transporter, ATP-binding, homolog 1, golgi to ER traffic 3 homolog, transmembrane domain recognition complex 40 kDa ATPase subunit,
• Gene location: 19p13.13 (12737105: 12748322)     Exons: 8     NC_000019.10
• Gene summary(Entrez): 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 (
• OMIM: 601913

SNPs

rs11754464

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31755958C>T
NC_000006.11   g.31723735C>T
NG_011611.1   g.20962C>T
NT_113891.3   g.3233215C>T
NT_113891.2   g.3233321C>T
NT_167245.2   g.3003732C>T
NT_167245.1   g.3009317C>T
NT_167247.2   g.3097847C>T
NT_167247.1   g.3103432C>T
NT_167248.2   g.3011780C>

rs9461718

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31760045A>C
NC_000006.12   g.31760045A>G
NC_000006.11   g.31727822A>C
NC_000006.11   g.31727822A>G
NG_011611.1   g.25049A>C
NG_011611.1   g.25049A>G
NT_113891.3   g.3237302A>C
NT_113891.3   g.3237302A>G
NT_113891.2   g.3237408A>C
NT_113891.2   g.3237408

rs3117572

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31749915A>C
NC_000006.12   g.31749915A>G
NC_000006.11   g.31717692A>C
NC_000006.11   g.31717692A>G
NG_011611.1   g.14919A>C
NG_011611.1   g.14919A>G
NT_113891.3   g.3227176G>A
NT_113891.3   g.3227176G>C
NT_113891.2   g.3227282G>A
NT_113891.2   g.3227282

rs3115672

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31760120C>T
NC_000006.11   g.31727897C>T
NG_011611.1   g.25124C>T
NM_025259.5   c.1767C>T
NM_002441.4   c.1716C>T
NM_172165.3   c.1716C>T
NM_172166.3   c.1716C>T
NT_113891.3   g.3237377T>C
NT_113891.2   g.3237483T>C
NT_167245.2   g.3007894C>T
NT_167245.  

rs2299850

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31750258C>T
NC_000006.11   g.31718035C>T
NG_011611.1   g.15262C>T
NT_113891.3   g.3227519C>T
NT_113891.2   g.3227625C>T
NT_167245.2   g.2998029C>T
NT_167245.1   g.3003614C>T
NT_167247.2   g.3092140C>T
NT_167247.1   g.3097725C>T
NT_167248.2   g.3006081C>

rs2075789

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31740551C>T
NC_000006.11   g.31708328C>T
NG_011611.1   g.5555C>T
NM_025259.5   c.85C>T
NM_002441.4   c.85C>T
NM_172166.4   c.85C>T
NM_172166.3   c.85C>T
NM_172165.3   c.85C>T
NT_113891.3   g.3217831C>T
NT_113891.2   g.3217937C>T
NT_167245.2   g.2988317C>T

Protein Summary

• Protein general information: O43681  
  • Name: ATPase GET3 (EC 3.6. . ) (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)
  • Length: 348  
  • Mass: 38793
  • 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
• Sequence:

  MAAGVAGWGVEAEEFEDAPDVEPLEPTLSNIIEQRSLKWIFVGGKGGVGKTTCSCSLAVQLSKGRESVLIISTDP
  AHNISDAFDQKFSKVPTKVKGYDNLFAMEIDPSLGVAELPDEFFEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAE
  VMRLVKGMNFSVVVFDTAPTGHTLRLLNFPTIVERGLGRLMQIKNQISPFISQMCNMLGLGDMNADQLASKLEET
  LPVIRSVSEQFKDPEQTTFICVCIAEFLSLYETERLIQELAKCKIDTHNIIVNQLVFPDPEKPCKMCEARHKIQA
  KYLDQMEDLYEDFHIVKLPLLPHEVRGADKVNTFSALLLEPYKPPSAQ

• Structural information:
  • Interpro: IPR025723  IPR016300  IPR027542  IPR027417  
  • STRING: ENSP00000466379
• Other Databases: GeneCards:  GET3  Malacards:  GET3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006620	posttranslational protein targeting to endoplasmic reticulum membrane	IBA	biological process
GO:0016887	ATPase activity	IBA	molecular function
GO:0043529	GET complex	IBA	cellular component
GO:0071816	tail-anchored membrane protein insertion into ER membrane	IDA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0015105	arsenite transmembrane transporter activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0045048	protein insertion into ER membrane	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0015700	arsenite transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)