Entity Details

Primary name ADAT3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96EY9
EntryNameADAT3_HUMAN
FullNameProbable inactive tRNA-specific adenosine deaminase-like protein 3
TaxID9606
Evidenceevidence at protein level
Length351
SequenceStatuscomplete
DateCreated2007-05-15
DateModified2021-06-02

Ontological Relatives

GenesADAT3

GO terms

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

Subcellular Location

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Domains

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DomainNameCategoryType
IPR002125 Cytidine and deoxycytidylate deaminase domainDomainDomain
IPR016193 Cytidine deaminase-likeFamilyHomologous superfamily

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

5 interactions