• Gene id: 23536

Gene Summary

• Gene Symbol: ADAT1   Gene   UCSC   Ensembl
• Aliases: HADAT1
• Gene name: adenosine deaminase, tRNA specific 1
• Alternate names: tRNA-specific adenosine deaminase 1, adenosine deaminase acting on tRNA, tRNA-specific adenosine-37 deaminase,
• Gene location: 16q23.1 (75623322: 75596878)     Exons: 12     NC_000016.10
• Gene summary(Entrez): This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-sp
• OMIM: 604230

Protein Summary

• Protein general information: Q9BUB4  
  • Name: tRNA specific adenosine deaminase 1 (hADAT1) (EC 3.5.4.34) (tRNA specific adenosine 37 deaminase)
  • Length: 502  
  • Mass: 55,392
• Sequence:

  MWTADEIAQLCYEHYGIRLPKKGKPEPNHEWTLLAAVVKIQSPADKACDTPDKPVQVTKEVVSMGTGTKCIGQSK
  MRKNGDILNDSHAEVIARRSFQRYLLHQLQLAATLKEDSIFVPGTQKGVWKLRRDLIFVFFSSHTPCGDASIIPM
  LEFEDQPCCPVFRNWAHNSSVEASSNLEAPGNERKCEDPDSPVTKKMRLEPGTAAREVTNGAAHHQSFGKQKSGP
  ISPGIHSCDLTVEGLATVTRIAPGSAKVIDVYRTGAKCVPGEAGDSGKPGAAFHQVGLLRVKPGRGDRTRSMSCS
  DKMARWNVLGCQGALLMHLLEEPIYLSAVVIGKCPYSQEAMQRALIGRCQNVSALPKGFGVQELKILQSDLLFEQ
  SRSAVQAKRADSPGRLVPCGAAISWSAVPEQPLDVTANGFPQGTTKKTIGSLQARSQISKVELFRSFQKLLSRIA
  RDKWPHSLRVQKLDTYQEYKEAASSYQEAWSTLRKQVFGSWIRNPPDYHQFK

• Structural information:
  • Protein Domains: A (63-501)
  • Interpro: IPR002466  
  • Prosite: PS50141
  • STRING: ENSP00000310015
• Other Databases: GeneCards:  ADAT1  Malacards:  ADAT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IMP	molecular function
GO:0008033	tRNA processing	IMP	biological process
GO:0008251	tRNA-specific adenosine deaminase activity	IMP	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003723	RNA binding	IMP	molecular function
GO:0004000	adenosine deaminase activity	IEA	molecular function
GO:0006396	RNA processing	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0008033	tRNA processing	IMP	biological process
GO:0008251	tRNA-specific adenosine deaminase activity	IMP	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003723	RNA binding	IMP	molecular function
GO:0008033	tRNA processing	IMP	biological process
GO:0008251	tRNA-specific adenosine deaminase activity	IMP	molecular function

Diseases

Associated diseases	References
Male factor infertility	MIK: 21919946
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 21919946
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21919946	Male infertility			125 (55 fertile men, 70 infertile men)	Male infertility	ADAT ADA2 and ADA1
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray