Gene
CARS1
cysteinyl-tRNA synthetase 1
- HGNC 1493↗(opens in a new tab)
- Ensembl gene ENSG00000110619↗(opens in a new tab)
- NCBI Gene 833↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p15.4
- Coordinates
- Chromosome 11: 3,000,929–3,057,423 (GRCh38)
- Exons
- 23 exons across 56.5 kb
- Protein
- 831 amino acids
- Previous symbols
- CARS
- MANE Select transcript
- ENST00000380525.9NM_001014437.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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How CARS1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.7 kb of the gene's 56.5 kb; 2,496 of those bases code for the protein.
Sequencing CARS1
4
positions in CARS1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 56.5 kb of CARS1, introns included, not only the 2.7 kb of exons.
Traits linked to CARS1
The Human Phenotype Ontology lists these as features of the rare conditions CARS1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed fine motor development
- Delayed motor skills
- Delayed speech and language development
- Intellectual disability, mild
- Wide based walk
- Abnormal pyramidal sign
- Attention deficit
- Brisk reflexes
Show 29 more traits
- Cerebral dysmyelination
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Decreased reflex response
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed CNS myelination
- Depression
- Difficulty articulating speech
- Difficulty performing quick and alternating movements
- Difficulty sleeping
- Diffuse cerebellar atrophy
- Dystonia
- Epilepsy
- Generalized hyperreflexia
- Generalized-onset seizure
- Global developmental delay
- Inability to coordinate movements when walking
- Incoordination
- Intention tremor
- Irritability
- Obsessive compulsive behavior
- Paraplegia/paraparesis
- Partial agenesis of the corpus callosum
- Peripheral neuropathy
- Periventricular leukomalacia
- Poor social interactions
- Repeated seizures without recovery between them
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CARS1 gene: cysteinyl-tRNA synthetase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/cars1
Dante Labs. CARS1 gene: cysteinyl-tRNA synthetase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cars1
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