RBCC Red Blood Cell Collection

SYK_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: KARS , KIAA0070
Protein names and data: SYK_HUMAN , Lysine--tRNA ligase; 6.1.1.6 , Lysyl-tRNA synthetase; LysRS Lenght: 597 a.a.
Mass: 68048 Da
fasta formatted sequence
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.
Catalytic activity: ATP + L-lysine + tRNA(Lys) = AMP + diphosphate + L-lysyl-tRNA(Lys).
Disease: ( OMIM: 601421 613641 613916 ) 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Isoform Cytoplasmic: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein. Secreted. Note=Secretion is induced by TNF-alpha. Isoform Mitochondrial: Mitochondrion.

Genetic variants

105 - 105 L -> H (in CMTRIB; severely affects enzyme activity). VAR_064911
145 - 145 Y -> H (in DFNB89). VAR_070233
179 - 179 G -> A (in dbSNP:rs11557665). VAR_052640 11557665
274 - 274 I -> M (in CMTRIB). VAR_064912
349 - 349 D -> N (in DFNB89). VAR_070234
595 - 595 T -> S (in dbSNP:rs6834). VAR_016105 6834

Database cross-references

UniProt: Q15046
Ensembl: ENST00000302445
Ensembl: ENST00000319410
MIM: 601421
MIM: 613641
MIM: 613916
neXtProt: NX_Q15046
Antibodypedia: Q15046 (may not find the protein thus also not any antibody)
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