Entity Details

Primary name DALD3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5D0E6
EntryNameDALD3_HUMAN
FullNameDALR anticodon-binding domain-containing protein 3
TaxID9606
Evidenceevidence at protein level
Length543
SequenceStatuscomplete
DateCreated2008-01-15
DateModified2021-06-02

Ontological Relatives

GenesDALRD3

GO terms

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GOName
GO:0000049 tRNA binding
GO:0004814 arginine-tRNA ligase activity
GO:0005524 ATP binding
GO:0006420 arginyl-tRNA aminoacylation
GO:0106217 tRNA C3-cytosine methylation

Subcellular Location

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Domains

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DomainNameCategoryType
IPR008909 DALR anticodon bindingDomainDomain
IPR009080 Aminoacyl-tRNA synthetase, class Ia, anticodon-bindingFamilyHomologous superfamily
IPR037380 DALR anticodon-binding domain-containing protein 3FamilyFamily

Diseases

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Disease IDSourceNameDescription
618910 OMIMDevelopmental and epileptic encephalopathy 86 (DEE86)A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE86 inheritance is autosomal recessive. The disease may be caused by variants affecting the gene represented in this entry.