Homo sapiens Protein: DARS | |||||||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00152
PF01336 |
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PRINTS |
PR01042
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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 | ||||||||||||||||||||||