YARS tyrosyl-tRNA synthetase [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: YARSprovided by HGNC
Official Full Name: tyrosyl-tRNA synthetaseprovided by HGNC
Primary source: HGNC:12840
See related: Ensembl:ENSG00000134684; HPRD:09153; MIM:603623; Vega:OTTHUMG00000003933
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: YRS; YTS; TYRRS; CMTDIC
Summary: 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]

Help top of page

Genomic context

Location :: 1p35.1

Sequence :: Chromosome: 1; NC_000001.10 (33240840..33283633, complement)

See YARS in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase.
Title: Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase.
Expression of tyrosyl-tRNA synthetase (YARS) DI-CMTC associated mutations (G41R, E196K,153-156delVKQV)in Drosophila leads to neuronal dysfunction.
Title: Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.
Human tyrosyl-tRNA synthetase, where a catalytic-domain surface helix, next to the active site, was recruited for interleukin-8-like cytokine signaling.
Title: Mutational separation of aminoacylation and cytokine activities of human tyrosyl-tRNA synthetase.
Mutating a conserved tyrosine (Y341) that tethers a critical ELR motif in TyrRS resulted in subtle opening of the structure, and activation of cytokine functions, proving the possibility of constitutive gain-of-function mutations in tRNA ligases.
Title: Gain-of-function mutational activation of human tRNA synthetase procytokine.
The recently discovered proangiogenic role of a tyrosyl-tRNA synthetase fragment that stimulates immune cells and links translation to a major cell-signaling pathway is discussed in this review.
Title: Activation of angiogenic signaling pathways by two human tRNA synthetases.
replacement of second lysine in KMSKS signature sequence by potassium
Title: Potassium functionally replaces the second lysine of the KMSKS signature sequence in human tyrosyl-tRNA synthetase.
identification of two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with dominant intermediate Charcot-Marie-Tooth neuropathy
Title: Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
the KMSSS sequence in human tyrosyl-tRNA synthetase stabilizes the transition state for the tyrosine activation reaction by interacting with the pyrophosphate moiety of ATP
Title: Comparison of the catalytic roles played by the KMSKS motif in the human and Bacillus stearothermophilus trosyl-tRNA synthetases.
role in inducing angiogenesis
Title: Induction of angiogenesis by a fragment of human tyrosyl-tRNA synthetase.
role in catalyzing tyrosyl-adenylate formation
Title: Catalysis of tyrosyl-adenylate formation by the human tyrosyl-tRNA synthetase.

Submit: New GeneRIF Correction See all (11)

Help top of page

Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Charcot-Marie-Tooth disease, dominant intermediate C

MIM: 608323

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
P54577	P08246	ELANE	HPRD	PubMed
BioGRID:114134	BioGRID:106877	ARF6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114134	BioGRID:115578	EIF1B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114134	BioGRID:109898	EIF6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114134	BioGRID:115573	SAP18	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114134	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
interleukin-8 receptor binding	TAS Traceable Author Statement more info	PubMed
ligase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
signal transducer activity	NAS Non-traceable Author Statement more info	PubMed
tRNA binding	IEA Inferred from Electronic Annotation more info
tyrosine-tRNA ligase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
apoptotic process	TAS Traceable Author Statement more info	PubMed
gene expression	TAS Traceable Author Statement more info
signal transduction	NAS Non-traceable Author Statement more info	PubMed
tRNA aminoacylation for protein translation	TAS Traceable Author Statement more info
tyrosyl-tRNA aminoacylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
extracellular space	TAS Traceable Author Statement more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
soluble fraction	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: tyrosine--tRNA ligase, cytoplasmic

Names: tyrosine--tRNA ligase, cytoplasmic; tyrosyl--tRNA ligase; tyrosine tRNA ligase 1, cytoplasmic; tyrosyl-tRNA synthetase, cytoplasmic

NP_003671.1

EC 6.1.1.1

Help top of page

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008408.1 RefSeqGene

Range

5001..47794

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003680.3 → NP_003671.1 tyrosine--tRNA ligase, cytoplasmic

Status: REVIEWED

Source sequence(s)

AC114489, AC114493

Consensus CDS

CCDS368.1

UniProtKB/Swiss-Prot

P54577

Related

ENSP00000362576, OTTHUMP00000004027, ENST00000373477, OTTHUMT00000011225

Conserved Domains (3) summary

cd02799
Location:363 – 468
Blast Score: 449

tRNA_bind_EMAP-II_like; tRNA-binding-domain-containing EMAP2-like proteins. This family contains a diverse fraction of tRNA binding proteins, including Caenorhabditis elegans methionyl-tRNA synthetase (CeMetRS), human tyrosyl- tRNA synthetase (hTyrRS), Saccharomyces cerevisiae ...

TIGR00234
Location:38 – 328
Blast Score: 372

tyrS; tyrosyl-tRNA synthetase

cd00805
Location:38 – 320
Blast Score: 655

TyrRS_core; catalytic core domain of tyrosinyl-tRNA synthetase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

33240840..33283633, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

31356139..31399200, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC114489.2 (139434..172875)	None
genomic	AC114493.3 (43699..53051)	None
genomic	CH471059.2	EAX07506.1
		EAX07507.1
		EAX07508.1
genomic	HB892438.1	CBF71274.1
genomic	HB904994.1	CBF84232.1
genomic	HB909583.1	CBF89282.1
genomic	HB931028.1	CBG00408.1
genomic	HC949847.1	CBU95132.1
genomic	HC962403.1	CBV01176.1
genomic	HC966992.1	CBV03421.1
genomic	HC988437.1	CBV13928.1
genomic	HI179134.1	CBX53875.1
mRNA	AK026535.1	None
mRNA	AK125213.1	BAG54166.1
mRNA	AK126444.1	None
mRNA	AK127182.1	None
mRNA	AK127879.1	None
mRNA	AK223608.1	BAD97328.1
mRNA	BC001933.1	AAH01933.1
mRNA	BC004151.2	AAH04151.1
mRNA	BC016689.1	AAH16689.1
mRNA	BC035242.1	None
mRNA	U40714.1	AAB39406.1
mRNA	U89436.1	AAB88409.1
other-genetic	DQ891666.2	ABM82592.1
other-genetic	DQ894853.2	ABM85779.1