Human Gene YARS1 (ENST00000373477.9) from GENCODE V44
  Description: Homo sapiens tyrosyl-tRNA synthetase 1 (YARS1), mRNA. (from RefSeq NM_003680)
RefSeq Summary (NM_003680): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000373477.9
Gencode Gene: ENSG00000134684.13
Transcript (Including UTRs)
   Position: hg38 chr1:32,775,239-32,817,358 Size: 42,120 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg38 chr1:32,775,981-32,817,244 Size: 41,264 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:32,775,239-32,817,358)mRNA (may differ from genome)Protein (528 aa)
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MalacardsMGIneXtProtOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYYC_HUMAN
DESCRIPTION: RecName: Full=Tyrosine--tRNA ligase, cytoplasmic; EC=6.1.1.1; AltName: Full=Tyrosyl-tRNA synthetase; Short=TyrRS;
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).
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cytoplasm.
DISEASE: Defects in YARS are the cause of Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]. CMTDIC is a form of Charcot-Marie-Tooth disease 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.
SIMILARITY: Belongs to the class-I aminoacyl-tRNA synthetase family.
SIMILARITY: Contains 1 tRNA-binding domain.
SEQUENCE CAUTION: Sequence=AAB39406.1; Type=Frameshift; Positions=354;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.43 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 544.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -50.70114-0.445 Picture PostScript Text
3' UTR -244.84742-0.330 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002305 - aa-tRNA-synth_Ic
IPR012340 - NA-bd_OB-fold
IPR016027 - NA-bd_OB-fold-like
IPR014729 - Rossmann-like_a/b/a_fold
IPR002547 - tRNA-bd_dom
IPR002307 - Tyr-tRNA-ligase
IPR023617 - Tyr-tRNA-ligase_arc/euk-type

Pfam Domains:
PF00579 - tRNA synthetases class I (W and Y)
PF01588 - Putative tRNA binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1N3L - X-ray MuPIT 1NTG - X-ray MuPIT 1Q11 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P54577
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserGenome Browser
Gene Details    Gene Details
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MGIRGDEnsemblEnsemblWormBaseSGD
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000049 tRNA binding
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004831 tyrosine-tRNA ligase activity
GO:0004871 signal transducer activity
GO:0005153 interleukin-8 receptor binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016874 ligase activity

Biological Process:
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006437 tyrosyl-tRNA aminoacylation
GO:0006915 apoptotic process
GO:0007165 signal transduction

Cellular Component:
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016604 nuclear body
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex
GO:0017102 methionyl glutamyl tRNA synthetase complex


-  Descriptions from all associated GenBank mRNAs
  BC035242 - Homo sapiens tyrosyl-tRNA synthetase, mRNA (cDNA clone IMAGE:4837840).
BC001933 - Homo sapiens tyrosyl-tRNA synthetase, mRNA (cDNA clone MGC:4000 IMAGE:2821104), complete cds.
BC004151 - Homo sapiens tyrosyl-tRNA synthetase, mRNA (cDNA clone MGC:2382 IMAGE:2821104), complete cds.
AK125213 - Homo sapiens cDNA FLJ43223 fis, clone FEBRA2026984, highly similar to Tyrosyl-tRNA synthetase, cytoplasmic (EC 6.1.1.1).
AK026535 - Homo sapiens cDNA: FLJ22882 fis, clone KAT03587, highly similar to HSU89436 Human tyrosyl-tRNA synthetase mRNA.
BC016689 - Homo sapiens tyrosyl-tRNA synthetase, mRNA (cDNA clone MGC:21917 IMAGE:4386850), complete cds.
AK126444 - Homo sapiens cDNA FLJ44480 fis, clone UTERU2032075, moderately similar to TYROSYL-TRNA SYNTHETASE (EC 6.1.1.1).
AK127182 - Homo sapiens cDNA FLJ45247 fis, clone BRCOC2016661, highly similar to Tyrosyl-tRNA synthetase (EC 6.1.1.1).
AK223608 - Homo sapiens mRNA for tyrosyl-tRNA synthetase variant, clone: FCC132F02.
U89436 - Human tyrosyl-tRNA synthetase mRNA, complete cds.
JD079271 - Sequence 60295 from Patent EP1572962.
KJ892564 - Synthetic construct Homo sapiens clone ccsbBroadEn_01958 YARS gene, encodes complete protein.
KR709439 - Synthetic construct Homo sapiens clone CCSBHm_00002211 YARS (YARS) mRNA, encodes complete protein.
KR709440 - Synthetic construct Homo sapiens clone CCSBHm_00002212 YARS (YARS) mRNA, encodes complete protein.
DQ891666 - Synthetic construct clone IMAGE:100004296; FLH179111.01X; RZPDo839C11130D tyrosyl-tRNA synthetase (YARS) gene, encodes complete protein.
DQ894853 - Synthetic construct Homo sapiens clone IMAGE:100009313; FLH179107.01L; RZPDo839C11129D tyrosyl-tRNA synthetase (YARS) gene, encodes complete protein.
KU178431 - Homo sapiens tyrosyl-tRNA synthetase isoform 1 (YARS) mRNA, partial cds.
KU178432 - Homo sapiens tyrosyl-tRNA synthetase isoform 2 (YARS) mRNA, complete cds, alternatively spliced.
U40714 - Human tyrosyl-tRNA synthetase mRNA, complete cds.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
TRNA-CHARGING-PWY - tRNA charging

Reactome (by CSHL, EBI, and GO)

Protein P54577 (Reactome details) participates in the following event(s):

R-HSA-379980 tyrosine + tRNA(Tyr) + ATP =>Tyr-tRNA(Tyr) + AMP + pyrophosphate
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-379724 tRNA Aminoacylation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B3KWK4, D3DPQ4, ENST00000373477.1, ENST00000373477.2, ENST00000373477.3, ENST00000373477.4, ENST00000373477.5, ENST00000373477.6, ENST00000373477.7, ENST00000373477.8, NM_003680, O43276, P54577, Q53EN1, SYYC_HUMAN, uc001bvy.1, uc001bvy.2, uc001bvy.3, YARS
UCSC ID: ENST00000373477.9
RefSeq Accession: NM_003680
Protein: P54577 (aka SYYC_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene YARS1:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.