Homo sapiens Protein: KARS | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-42719.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | KARS | ||||||||||||||||||||||
Protein Name | lysyl-tRNA synthetase | ||||||||||||||||||||||
Synonyms | CMTRIB; DFNB89; KARS1; KARS2; KRS; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000303043 | ||||||||||||||||||||||
InnateDB Gene | IDBG-42717 (KARS) | ||||||||||||||||||||||
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. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of diadenosine oligophosphate (Ap4A), a signaling molecule involved in the activation of MITF transcriptional activity. Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation. {ECO:0000269PubMed:15851690, ECO:0000269PubMed:5338216}. | ||||||||||||||||||||||
Subcellular Localization | Isoform Cytoplasmic: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein. Secreted. Note=Secretion is induced by TNF-alpha.Isoform Mitochondrial: Mitochondrion. | ||||||||||||||||||||||
Disease Associations | Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269PubMed:20920668}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]: A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies. {ECO:0000269PubMed:23768514}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 77 experimentally validated interaction(s) in this database.
They are also associated with 2 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 IPR002313 Lysine-tRNA ligase, class II IPR004364 Aminoacyl-tRNA synthetase, class II (D/K/N) IPR004365 OB-fold nucleic acid binding domain, AA-tRNA synthetase-type IPR006195 Aminoacyl-tRNA synthetase, class II IPR012340 Nucleic acid-binding, OB-fold IPR018149 Lysyl-tRNA synthetase, class II, C-terminal |
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PFAM |
PF00152
PF01336 |
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PRINTS |
PR01042
PR00982 |
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PIRSF | |||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q15046 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q15046 | ||||||||||||||||||||||
TrEMBL | J3KRL2 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 3735 | ||||||||||||||||||||||
UniGene | Hs.3100 | ||||||||||||||||||||||
RefSeq | NP_005539 | ||||||||||||||||||||||
HUGO | HGNC:6215 | ||||||||||||||||||||||
OMIM | 601421 | ||||||||||||||||||||||
CCDS | CCDS10923 | ||||||||||||||||||||||
HPRD | 03249 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC025287 AF285758 BC004132 CH471114 D31890 D32053 | ||||||||||||||||||||||
GenPept | AAG30114 AAH04132 BAA06688 BAA22084 EAW95622 EAW95624 | ||||||||||||||||||||||