• Gene id: 113179

Gene Summary

• Gene Symbol: ADAT3   Gene   UCSC   Ensembl
• Aliases: FWP005, MRT36, MST121, MSTP121, S863-5, TAD3
• Gene name: adenosine deaminase tRNA specific 3
• Alternate names: probable inactive tRNA-specific adenosine deaminase-like protein 3, adenosine deaminase, tRNA-specific 3, TAD3 homolog, tRNA-specific adenosine-34 deaminase subunit ADAT3,
• Gene location: 19p13.3 (1905398: 1913446)     Exons: 2     NC_000019.10
• Gene summary(Entrez): This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene
• OMIM: 606667

Protein Summary

• Protein general information: Q96EY9  
  • Name: Probable inactive tRNA specific adenosine deaminase like protein 3 (tRNA specific adenosine 34 deaminase subunit ADAT3)
  • Length: 351  
  • Mass: 38071
• Sequence:

  MEPAPGLVEQPKCLEAGSPEPEPAPWQALPVLSEKQSGDVELVLAYAAPVLDKRQTSRLLKEVSALHPLPAQPHL
  KRVRPSRDAGSPHALEMLLCLAGPASGPRSLAELLPRPAVDPRGLGQPFLVPVPARPPLTRGQFEEARAHWPTSF
  HEDKQVTSALAGRLFSTQERAAMQSHMERAVWAARRAAARGLRAVGAVVVDPASDRVLATGHDCSCADNPLLHAV
  MVCVDLVARGQGRGTYDFRPFPACSFAPAAAPQAVRAGAVRKLDADEDGLPYLCTGYDLYVTREPCAMCAMALVH
  ARILRVFYGAPSPDGALGTRFRIHARPDLNHRFQVFRGVLEEQCRWLDPDT

• Structural information:
  • Protein Domains: (171..33-)
    (/note="CMP/dCMP-type-deaminase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01083"-)
  • Interpro: IPR002125  IPR016193  
  • Prosite: PS51747
  • STRING: ENSP00000332448
• Other Databases: GeneCards:  ADAT3  Malacards:  ADAT3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0052718	tRNA-specific adenosine-34 deaminase complex	IBA	cellular component
GO:0052717	tRNA-specific adenosine-34 deaminase activity	IBA	molecular function
GO:0002100	tRNA wobble adenosine to inosine editing	IBA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006400	tRNA modification	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq