Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities h... See more...

Aliases for YARS1 Gene

Aliases for YARS1 Gene

  • Tyrosyl-TRNA Synthetase 1 2 3 5
  • Tyrosine TRNA Ligase 1, Cytoplasmic 2 3
  • Tyrosine--TRNA Ligase, Cytoplasmic 3 4
  • Tyrosyl-TRNA Synthetase 2 4
  • EC 6.1.1.1 4 51
  • TyrRS 2 4
  • YARS 3 4
  • YRS 2 3
  • YTS 2 3
  • Tyrosyl-TRNA Synthetase, Cytoplasmic 3
  • Tyrosyl--TRNA Ligase 3
  • EC 6.1.1 51
  • CMTDIC 3
  • TYRRS 3
  • YARS1 5

External Ids for YARS1 Gene

Previous HGNC Symbols for YARS1 Gene

  • YARS

Summaries for YARS1 Gene

Entrez Gene Summary for YARS1 Gene

  • Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]

GeneCards Summary for YARS1 Gene

YARS1 (Tyrosyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with YARS1 include Charcot-Marie-Tooth Disease, Dominant Intermediate C and Charcot-Marie-Tooth Disease. Among its related pathways are tRNA Aminoacylation and Tyrosine metabolism.

UniProtKB/Swiss-Prot Summary for YARS1 Gene

  • 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).

Gene Wiki entry for YARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for YARS1 Gene

Genomics for YARS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for YARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around YARS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for YARS1

Genomic Locations for YARS1 Gene

Genomic Locations for YARS1 Gene
chr1:32,775,237-32,818,153
(GRCh38/hg38)
Size:
42,917 bases
Orientation:
Minus strand
chr1:33,240,840-33,283,754
(GRCh37/hg19)
Size:
42,915 bases
Orientation:
Minus strand

Genomic View for YARS1 Gene

Genes around YARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
YARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for YARS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YARS1 Gene

Proteins for YARS1 Gene

  • Protein details for YARS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54577-SYYC_HUMAN
    Recommended name:
    Tyrosine--tRNA ligase, cytoplasmic
    Protein Accession:
    P54577
    Secondary Accessions:
    • B3KWK4
    • D3DPQ4
    • O43276
    • Q53EN1

    Protein attributes for YARS1 Gene

    Size:
    528 amino acids
    Molecular mass:
    59143 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAB39406.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for YARS1 Gene

neXtProt entry for YARS1 Gene

Selected DME Specific Peptides for YARS1 Gene

P54577:
  • KAMLESI
  • ENNGVLSF
  • ELKPKKKVFEKLQ
  • KMSSSEEESKIDLLD
  • LITRNLQE
  • EYTLDVYRLSS
  • SIGVPLE
  • EKHPDAD
  • HVLFPLKSEFV
  • KGPAKNSEPEEVIPSRLDIRVGK
  • DVKKKLKKAFCEPGN
  • DQRKIFTFAEKYLP
  • HLMNPMVP
  • GVESQGM
  • LCNLKPQKMRG
  • EPRTVVSGLVQFVPKE
  • AGAEVVKQV
  • SAAYPDPSKQKP
  • VIKAMLESIGVPL
  • ADFLKAGCEVT
  • RLVVVLCNLKP

Post-translational modifications for YARS1 Gene

  • Ubiquitination at Lys119, Lys147, Lys197, Lys206, and Lys513
  • Modification sites at PhosphoSitePlus

Other Protein References for YARS1 Gene

Domains & Families for YARS1 Gene

Gene Families for YARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for YARS1 Gene

InterPro:
Blocks:
  • Aminoacyl-tRNA synthetase, class Ib
  • Tyrosyl-tRNA synthetase signature
  • t-RNA-binding region
ProtoNet:

Suggested Antigen Peptide Sequences for YARS1 Gene

GenScript: Design optimal peptide antigens:
  • Tyrosyl--tRNA ligase (SYYC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54577

UniProtKB/Swiss-Prot:

SYYC_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with YARS1: view

Function for YARS1 Gene

Molecular function for YARS1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosine + tRNA(Tyr) = AMP + diphosphate + H(+) + L-tyrosyl-tRNA(Tyr); Xref=Rhea:RHEA:10220, Rhea:RHEA-COMP:9706, Rhea:RHEA-COMP:9707, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58315, ChEBI:CHEBI:78442, ChEBI:CHEBI:78536, ChEBI:CHEBI:456215; EC=6.1.1.1;.

Enzyme Numbers (IUBMB) for YARS1 Gene

Phenotypes From GWAS Catalog for YARS1 Gene

Gene Ontology (GO) - Molecular Function for YARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004831 tyrosine-tRNA ligase activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with YARS1: view
genes like me logo Genes that share phenotypes with YARS1: view

Human Phenotype Ontology for YARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for YARS1 Gene

MGI Knock Outs for YARS1:
  • Yars Yars<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for YARS1 Gene

miRTarBase miRNAs that target YARS1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for YARS1

No data available for Transcription Factor Targets and HOMER Transcription for YARS1 Gene

Localization for YARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for YARS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for YARS1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for YARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 10102815
GO:0005737 cytoplasm TAS 9162081
GO:0005829 cytosol TAS --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with YARS1: view

Pathways & Interactions for YARS1 Gene

PathCards logo

SuperPathways for YARS1 Gene

SuperPathway Contained pathways
1 tRNA Aminoacylation
2 Gene Expression
3 Tyrosine metabolism
.32
genes like me logo Genes that share pathways with YARS1: view

Pathways by source for YARS1 Gene

1 KEGG pathway for YARS1 Gene
1 GeneGo (Thomson Reuters) pathway for YARS1 Gene
  • Tyrosine metabolism p.1 (dopamine)

Gene Ontology (GO) - Biological Process for YARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006437 tyrosyl-tRNA aminoacylation IEA --
GO:0006915 apoptotic process TAS 10102815
genes like me logo Genes that share ontologies with YARS1: view

No data available for SIGNOR curated interactions for YARS1 Gene

Drugs & Compounds for YARS1 Gene

(13) Drugs for YARS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tyrosine Approved, Investigational Nutra Target 1044
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
4-(2,2,2-TRIFLUOROETHYL)-L-PHENYLALANINE Experimental Pharma Target 0
Beta-(2-Naphthyl)-Alanine Experimental Pharma Target 0

(6) Additional Compounds for YARS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with YARS1: view

Transcripts for YARS1 Gene

mRNA/cDNA for YARS1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for YARS1

Alternative Splicing Database (ASD) splice patterns (SP) for YARS1 Gene

No ASD Table

Relevant External Links for YARS1 Gene

GeneLoc Exon Structure for
YARS1

Expression for YARS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for YARS1

SOURCE GeneReport for Unigene cluster for YARS1 Gene:

Hs.213264

Evidence on tissue expression from TISSUES for YARS1 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Blood(4.7)
  • Liver(4.7)
  • Bone(4.4)
  • Skin(3.9)
  • Kidney(3.9)
  • Eye(3.7)
  • Intestine(3.7)
  • Spleen(3.6)
  • Heart(3)
  • Lymph node(2.8)
  • Bone marrow(2.7)
  • Muscle(2.6)
  • Adrenal gland(2.6)
  • Pancreas(2.6)
  • Stomach(2.4)
  • Thyroid gland(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for YARS1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • head
Limb:
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for YARS1 Gene

Orthologs for YARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for YARS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia YARS 30 31
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia YARS 30 31
  • 92.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia YARS 31
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia YARS 30 31
  • 91.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Yars 30 17 31
  • 89.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Yars 30
  • 89.27 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia YARS 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves YARS 30 31
  • 78.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia YARS 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia yars 30
  • 73.42 (n)
Str.4835 30
Zebrafish
(Danio rerio)
Actinopterygii yars 30 31
  • 73.93 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-tyr 30 31
  • 65.61 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003003 30
  • 61.9 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y105E8A.19 31
  • 32 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL148W 30
  • 60.62 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TYS1 30 31 33
  • 59.84 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15389g 30
  • 57.7 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0303900 30
  • 53.73 (n)
Corn
(Zea mays)
Liliopsida Zm.4638 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1744 31
  • 66 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes yrs1 30
  • 57.32 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07755 30
  • 54.24 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.10401 30
Species where no ortholog for YARS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for YARS1 Gene

ENSEMBL:
Gene Tree for YARS1 (if available)
TreeFam:
Gene Tree for YARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for YARS1: view image

Paralogs for YARS1 Gene

No data available for Paralogs for YARS1 Gene

Variants for YARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for YARS1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
635008 Pathogenic: recessive ARS-related multisystem disease 32,810,734(-) G/C NONSENSE
640220 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate C 32,797,812(-) G/T MISSENSE_VARIANT
641228 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate C 32,797,797(-) A/G MISSENSE_VARIANT
642352 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate C 32,780,221(-) G/A MISSENSE_VARIANT
642748 Uncertain Significance: Charcot-Marie-Tooth disease, dominant intermediate C 32,781,088(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for YARS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for YARS1 Gene

Variant ID Type Subtype PubMed ID
esv3585677 CNV loss 21293372
esv3585678 CNV loss 21293372
nsv322 CNV deletion 18451855
nsv509158 CNV insertion 20534489
nsv519188 CNV loss 19592680

Variation tolerance for YARS1 Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for YARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
YARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for YARS1 Gene

Disorders for YARS1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for YARS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, dominant intermediate c
  • cmtdic
charcot-marie-tooth disease
  • peroneal muscular atrophy
charcot-marie-tooth disease/hereditary motor and sensory neuropathy
  • charcot-marie-tooth hereditary neuropathy
charcot-marie-tooth disease intermediate type
  • charcot-marie-tooth disease dominant intermediate
deafness, autosomal recessive 44
  • dfnb44
- elite association - COSMIC cancer census association via MalaCards
Search YARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYYC_HUMAN
  • 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. {ECO:0000269 PubMed:16429158}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with YARS1: view

No data available for Genatlas for YARS1 Gene

Publications for YARS1 Gene

  1. Human tyrosyl-tRNA synthetase shares amino acid sequence homology with a putative cytokine. (PMID: 9162081) Kleeman TA … First EA (The Journal of biological chemistry 1997) 2 3 4 23
  2. Crystal structures that suggest late development of genetic code components for differentiating aromatic side chains. (PMID: 14671330) Yang XL … Ribas de Pouplana L (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23
  3. Crystal structure of a human aminoacyl-tRNA synthetase cytokine. (PMID: 12427973) Yang XL … Schimmel P (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 23
  4. Evidence that two present-day components needed for the genetic code appeared after nucleated cells separated from eubacteria. (PMID: 8552597) Ribas de Pouplana L … Schimmel P (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4
  5. Mutational separation of aminoacylation and cytokine activities of human tyrosyl-tRNA synthetase. (PMID: 19477417) Kapoor M … Yang XL (Chemistry & biology 2009) 3 23

Products for YARS1 Gene

  • Signalway Proteins for YARS1

Sources for YARS1 Gene