RBCC Red Blood Cell Collection

SYYC_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: YARS
Protein names and data: SYYC_HUMAN , Tyrosine--tRNA ligase, cytoplasmic; 6.1.1.1 , Tyrosyl-tRNA synthetase; TyrRS; Tyrosine--tRNA ligase, cytoplasmic, N-terminally processed Lenght: 528 a.a.
Mass: 59143 Da
fasta formatted sequence
Function: Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr- AMP and then transferred to the acceptor end of tRNA(Tyr) (By similarity).
Catalytic activity: ATP + L-tyrosine + tRNA(Tyr) = AMP + diphosphate + L-tyrosyl-tRNA(Tyr).
Disease: ( OMIM: 603623 608323 ) Charcot-Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) [MIM:608323]: 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. The dominant intermediate type C is 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.
Cellular location: Cytoplasm.

Genetic variants

41 - 41 G -> R (in CMTDIC; partial loss of activity). VAR_026681
153 - 156 Missing (in CMTDIC). VAR_026682
170 - 170 Q -> H (in dbSNP:rs2128600). VAR_026683 2128600
196 - 196 E -> K (in CMTDIC; partial loss of activity). VAR_026684

Database cross-references

UniProt: P54577
Ensembl: ENST00000373477
MIM: 603623
MIM: 608323
neXtProt: NX_P54577
Antibodypedia: P54577 (may not find the protein thus also not any antibody)
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