• Gene id: 104

Gene Summary

• Gene Symbol: ADARB1   Gene   UCSC   Ensembl
• Aliases: ADAR2, DRABA2, DRADA2, NEDHYMS, RED1
• Gene name: adenosine deaminase RNA specific B1
• Alternate names: double-stranded RNA-specific editase 1, RNA editing deaminase 1, RNA-editing enzyme 1, adenosine deaminase, RNA-specific, B1 (homolog of rat RED1), dsRNA adenosine deaminase DRADA2,
• Gene location: 21q22.3 (29850616: 29764370)     Exons: 5     NC_000013.11
• Gene summary(Entrez): This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI
• OMIM: 601218

SNPs

rs7946

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

NC_000017.11   g.17506246C>T
NC_000017.10   g.17409560C>T
XM_006721418.4   c.571G>A
NM_148172.3   c.634G>A
NM_148172.2   c.634G>A
NM_007169.2   c.523G>A
NM_007169.3   c.523G>A
NM_001267552.1   c.665G>A
NM_001267552.2   c.665G>A
NM_001267551.1   c.568G>A
NM_001267551.2   c

Protein Summary

• Protein general information: P78563  
  • Name: Double stranded RNA specific editase 1 (EC 3.5.4.37) (RNA editing deaminase 1) (RNA editing enzyme 1) (dsRNA adenosine deaminase)
  • Length: 741  
  • Mass: 80763
  • Tissue specificity: Highly expressed in brain and heart and at lower levels in placenta. Fair expression in lung, liver and kidney. Detected in brain, heart, kidney, lung and liver (at protein level). Isoform 5 is high expressed in hippocampus and colon.
• Sequence:

  MDIEDEENMSSSSTDVKENRNLDNVSPKDGSTPGPGEGSQLSNGGGGGPGRKRPLEEGSNGHSKYRLKKRRKTPG
  PVLPKNALMQLNEIKPGLQYTLLSQTGPVHAPLFVMSVEVNGQVFEGSGPTKKKAKLHAAEKALRSFVQFPNASE
  AHLAMGRTLSVNTDFTSDQADFPDTLFNGFETPDKAEPPFYVGSNGDDSFSSSGDLSLSASPVPASLAQPPLPVL
  PPFPPPSGKNPVMILNELRPGLKYDFLSESGESHAKSFVMSVVVDGQFFEGSGRNKKLAKARAAQSALAAIFNLH
  LDQTPSRQPIPSEGLQLHLPQVLADAVSRLVLGKFGDLTDNFSSPHARRKVLAGVVMTTGTDVKDAKVISVSTGT
  KCINGEYMSDRGLALNDCHAEIISRRSLLRFLYTQLELYLNNKDDQKRSIFQKSERGGFRLKENVQFHLYISTSP
  CGDARIFSPHEPILEGSRSYTQAGVQWCNHGSLQPRPPGLLSDPSTSTFQGAGTTEPADRHPNRKARGQLRTKIE
  SGEGTIPVRSNASIQTWDGVLQGERLLTMSCSDKIARWNVVGIQGSLLSIFVEPIYFSSIILGSLYHGDHLSRAM
  YQRISNIEDLPPLYTLNKPLLSGISNAEARQPGKAPNFSVNWTVGDSAIEVINATTGKDELGRASRLCKHALYCR
  WMRVHGKVPSHLLRSKITKPNVYHESKLAAKEYQAAKARLFTAFIKAGLGAWVEKPTEQDQFSLTP

• Structural information:
  • Protein Domains: (78..14-)
    (/note="DRBM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266-)
    (231..29-)
    (/note="DRBM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266-)
    (370..73-)
    I (/note="A-to)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0-)
  • Interpro: IPR002466  IPR014720  IPR008996  
  • Prosite: PS50141 PS50137
  • CDD: cd00048
  • PDB: 1ZY7 5ED1 5ED2 5HP2 5HP3 6D06
  • PDBsum: 1ZY7 5ED1 5ED2 5HP2 5HP3 6D06
  • STRING: ENSP00000353920
• Other Databases: GeneCards:  ADARB1  Malacards:  ADARB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008251	tRNA-specific adenosine deaminase activity	IBA	molecular function
GO:0006396	RNA processing	IBA	biological process
GO:0006382	adenosine to inosine editing	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003726	double-stranded RNA adenosine deaminase activity	IBA	molecular function
GO:0003725	double-stranded RNA binding	IBA	molecular function
GO:0051726	regulation of cell cycle	IDA	biological process
GO:0044387	negative regulation of protein kinase activity by regulation of protein phosphorylation	IDA	biological process
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0006382	adenosine to inosine editing	IDA	biological process
GO:0006382	adenosine to inosine editing	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0045070	positive regulation of viral genome replication	IMP	biological process
GO:0004000	adenosine deaminase activity	IEA	molecular function
GO:0006396	RNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006382	adenosine to inosine editing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006382	adenosine to inosine editing	IEA	biological process
GO:0021618	hypoglossal nerve morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007274	neuromuscular synaptic transmission	IEA	biological process
GO:0021610	facial nerve morphogenesis	IEA	biological process
GO:0021965	spinal cord ventral commissure morphogenesis	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0050884	neuromuscular process controlling posture	IEA	biological process
GO:0060384	innervation	IEA	biological process
GO:0060415	muscle tissue morphogenesis	IEA	biological process
GO:0061744	motor behavior	IEA	biological process
GO:0097049	motor neuron apoptotic process	IEA	biological process
GO:0003729	mRNA binding	TAS	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	PMID:22226999
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray