ENSG00000134684


Homo sapiens

Features
Gene ID: ENSG00000134684
  
Biological name :YARS
  
Synonyms : P54577 / tyrosyl-tRNA synthetase / YARS
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p35.1
Gene start: 32775237
Gene end: 32818153
  
Corresponding Affymetrix probe sets: 212048_s_at (Human Genome U133 Plus 2.0 Array)   238760_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000362576
Ensembl peptide - ENSP00000484192
NCBI entrez gene - 8565     See in Manteia.
OMIM - 603623
RefSeq - XM_017002651
RefSeq - NM_003680
RefSeq - XM_011542347
RefSeq - XM_011542348
RefSeq Peptide - NP_003671
swissprot - P54577
swissprot - A0A0S2Z4R1
swissprot - A0A0C4DGZ5
Ensembl - ENSG00000134684
  
Related genetic diseases (OMIM): 608323 - Charcot-Marie-Tooth disease, dominant intermediate C, 608323
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 yarsENSDARG00000035913Danio rerio
 YARSENSGALG00000003563Gallus gallus
 YarsENSMUSG00000028811Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002305  Aminoacyl-tRNA synthetase, class Ic
 IPR002307  Tyrosine-tRNA ligase
 IPR002547  tRNA-binding domain
 IPR012340  Nucleic acid-binding, OB-fold
 IPR014729  Rossmann-like alpha/beta/alpha sandwich fold
 IPR023617  Tyrosine-tRNA ligase, archaeal/eukaryotic-type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006412 translation IEA
 biological_processGO:0006418 tRNA aminoacylation for protein translation IEA
 biological_processGO:0006437 tyrosyl-tRNA aminoacylation IEA
 biological_processGO:0006915 apoptotic process TAS
 biological_processGO:0007165 signal transduction IEA
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0017101 aminoacyl-tRNA synthetase multienzyme complex IBA
 cellular_componentGO:0017102 methionyl glutamyl tRNA synthetase complex IBA
 molecular_functionGO:0000049 tRNA binding IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0004812 aminoacyl-tRNA ligase activity IEA
 molecular_functionGO:0004831 tyrosine-tRNA ligase activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity NAS
 molecular_functionGO:0005153 interleukin-8 receptor binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016874 ligase activity IEA


Pathways (from Reactome)
Pathway description
Cytosolic tRNA aminoacylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001760 Abnormality of the feet "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators]
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 HP:0002460 Distal muscle weakness "Reduced strength of the distal musculature." [HPO:curators]
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 HP:0002936 Distal sensory impairment 
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 HP:0003450 Axonal regeneration on nerve biopsy 
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 HP:0003484 Upper limb involvement may occur later 
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 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000134684 YARS / P54577 / tyrosyl-tRNA synthetase  / complex






 

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