Entity Details

Primary name ADAT3
Entity type gene
Source Source Link

Details

PrimaryID113179
RefseqGeneNG_051211
SymbolADAT3
Nameadenosine deaminase tRNA specific 3
Chromosome19
Location19p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-08-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsADAT3_HUMAN

GO terms

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GOName
GO:0003824 catalytic activity
GO:0005654 nucleoplasm
GO:0006400 tRNA modification
GO:0046872 metal ion binding

Diseases

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Disease IDSourceNameDescription
615286 OMIMMental retardation, autosomal recessive 36 (MRT36)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT36 is often associated with esotropia and failure to thrive. Other more variable features included microcephaly, hypotonia, and mild brain abnormalities on MRI, such as dilated ventricles or delayed myelination. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
ADAT3THRBBioGRID, IntAct21988832 details
ADAT3CDABioGRID, IntAct32296183 details
ADAT3SORBS3BioGRID, IntAct32296183 details
ADAT3FBLIM1BioGRID, IntAct32296183 details
ADAT3KAT2ABioGRID20946988 details
ADAT3TRIP13BioGRID, IntAct28514442 details
ADAT3ADAT2BioGRID, IntAct26186194 28514442 details