Entity Details

Primary name SYNM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96I59
EntryNameSYNM_HUMAN
FullNameProbable asparagine--tRNA ligase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length477
SequenceStatuscomplete
DateCreated2006-10-03
DateModified2021-06-02

Ontological Relatives

GenesNARS2

GO terms

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GOName
GO:0003676 nucleic acid binding
GO:0004816 asparagine-tRNA ligase activity
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006421 asparaginyl-tRNA aminoacylation

Subcellular Location

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Subcellular Location
Mitochondrion
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR002312 Aspartyl/Asparaginyl-tRNA synthetase, class IIbFamilyFamily
IPR004364 Aminoacyl-tRNA synthetase, class II (D/K/N)DomainDomain
IPR004365 OB-fold nucleic acid binding domain, AA-tRNA synthetase-typeDomainDomain
IPR004522 Asparagine-tRNA ligaseFamilyFamily
IPR006195 Aminoacyl-tRNA synthetase, class IIDomainDomain
IPR012340 Nucleic acid-binding, OB-foldFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
616239 OMIMCombined oxidative phosphorylation deficiency 24 (COXPD24)An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. The disease is caused by variants affecting the gene represented in this entry.
618434 OMIMDeafness, autosomal recessive, 94 (DFNB94)A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease may be caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00174 AsparagineDrugbanksmall molecule

Interactions

0 interactions

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