Homo sapiens Protein: DARS
Summary
InnateDB Protein IDBP-70986.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DARS
Protein Name aspartyl-tRNA synthetase
Synonyms aspRS; HBSL;
Species Homo sapiens
Ensembl Protein ENSP00000264161
InnateDB Gene IDBG-70984 (DARS)
Protein Structure
UniProt Annotation
Function Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
Subcellular Localization Cytoplasm.
Disease Associations Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord. {ECO:0000269PubMed:23643384}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expression in the developing and adult brain shows similar patterns. Highly expressed in the ventricular and subventricular zones, including hippocampal subfields, the midlateral temporaal cortex and the frontal polar cortex. The cerebellum, cereral cortex, hippocampus, and lateral ventricle show preferential neuronal expression. Expression in the peripheral neurons is evident in the colon. {ECO:0000269PubMed:23643384}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 59 [view]
Protein-Protein 57 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0004046 aminoacylase activity
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004815 aspartate-tRNA ligase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006422 aspartyl-tRNA aminoacylation
GO:0006461 protein complex assembly
GO:0010467 gene expression
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR002312 Aspartyl/Asparaginyl-tRNA synthetase, class IIb
IPR004364 Aminoacyl-tRNA synthetase, class II (D/K/N)
IPR004365 OB-fold nucleic acid binding domain, AA-tRNA synthetase-type
IPR004523 Aspartyl-tRNA synthetases
IPR006195 Aminoacyl-tRNA synthetase, class II
IPR012340 Nucleic acid-binding, OB-fold
PFAM PF00152
PF01336
PRINTS PR01042
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P14868
PhosphoSite PhosphoSite-P14868
TrEMBL Q68CR9
UniProt Splice Variant
Entrez Gene 1615
UniGene Hs.602640
RefSeq NP_001340
HUGO HGNC:2678
OMIM 603084
CCDS CCDS2180
HPRD 04361
IMGT
EMBL AC011999 AC093391 AK222476 AK290607 AY762100 BC000629 BC107749 BT006710 CH471058 CR749809 J05032
GenPept AAA35567 AAH00629 AAI07750 AAP35356 AAX07827 AAY15029 AAY24055 BAD96196 BAF83296 CAH18669 EAX11617 EAX11618 EAX11619 EAX11620