YARS1

Chr 1ADAR

tyrosyl-tRNA synthetase 1

Also known as: CMTDIC, IMNEPD2, TYRRS, YARS, YRS, YTS

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]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, dominant intermediate CMIM #608323
AD
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2MIM #619418
AR

Clinical highlights

Gene-disease validity (ClinGen)
Charcot-Marie-Tooth disease · ADDefinitivesufficient evidence for diagnostic panels
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
0.62
LOEUF
DN
Mechanism· predicted
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GeneReview available — YARS1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.001
Z-score 3.05
OE 0.37 (0.230.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.14Z-score
OE missense 0.81 (0.730.90)
228 obs / 281.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.230.62)
00.351.4
Missense OE?0.81 (0.730.90)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 10 / 27.2Missense obs/exp: 228 / 281.7Syn Z: -0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

YARS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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