CARS1

CARS1
Identifiers
Aliases	CARS1, cysteinyl-tRNA synthetase 1, CYSRS, cysteinyl-tRNA synthetase, MDBH, CARS, MCDDBH, MGC:11246
External IDs	OMIM: 123859; MGI: 1351477; HomoloGene: 1328; GeneCards: CARS1; OMA:CARS1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	3,057,613 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	143,153,827 bp
RNA expression pattern
	Top expressed in
	olfactory zone of nasal mucosa; ; blood; ; stromal cell of endometrium; ; left lobe of thyroid gland; ; granulocyte; ; skin of leg; ; prefrontal cortex; ; right lobe of thyroid gland; ; anterior pituitary; ; Hypothalamus;
	Top expressed in
	neural layer of retina; ; esophagus; ; muscle of thigh; ; yolk sac; ; gastrula; ; tail of embryo; ; ventricular zone; ; lip; ; parotid gland; ; lens;
	More reference expression data
	n/a
Gene ontology
Molecular function	aminoacyl-tRNA ligase activity; tRNA binding; cysteine-tRNA ligase activity; nucleotide binding; ligase activity; protein binding; ATP binding; protein homodimerization activity; metal ion binding;
Cellular component	cytoplasm; cytosol;
Biological process	tRNA aminoacylation for protein translation; cysteinyl-tRNA aminoacylation; protein biosynthesis;
	Sources:Amigo / QuickGO
Orthologs
	833
	27267
	ENSG00000110619; ENSG00000278191
	ENSMUSG00000010755
	P49589
	Q9ER72
NM_001014437; NM_001014438; NM_001194997; NM_001751; NM_139273;
	NM_001378136; NM_001378137; NM_001378138; NM_001378139; NM_001378140
	NM_001252593; NM_013742
NP_001014437; NP_001181926; NP_001742; NP_644802; NP_001365065;
	NP_001365066; NP_001365067; NP_001365068; NP_001365069
	NP_001239522; NP_038770
	Wikidata
View/Edit Human	View/Edit Mouse

Cysteinyl-tRNA synthetase 1 is an enzyme (EC 6.1.1.16) that in humans is encoded by the CARS1 gene. It is an aminoacyl tRNA synthetase that attaches the cysteine amino acid onto its corresponding transfer RNA (tRNA). Cysteinyl tRNA in turn is used by the ribosome to transfer cysteine onto a growing peptide chain during protein synthesis, according to the genetic code.^[5]

Clinical significance

Trichothiodystrophy

Bi-allelic Mutations in CARS1 have been identified to cause non-photosensitive form of the trichothiodystrophy (TTD-NPS),^[6] Which is characterized by neurodevelopmental problems, Sulfur-deficient brittle hair, nails, and ichtiyosis and growth retardation.^[7] Unlike photosensetive trichothiodystrophy, In contrast to the photosensitive version of TTD (PS-TTD), which has the characteristics of progressive neuropathy and accelerated aging, NPS-TTD is not linked with premature aging.^[8]

According to one study, individuals who present with bi-allelic CARS LoF variants are unique in presenting with a brittle-hair-and-nail phenotype, which could linked the high cysteine content in human keratins.^[6]

References

^ ^a ^b ^c ENSG00000278191 GRCh38: Ensembl release 89: ENSG00000110619, ENSG00000278191 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000010755 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Sung Y, Yoon I, Han JM, Kim S (May 2022). "Functional and pathologic association of aminoacyl-tRNA synthetases with cancer". Experimental & Molecular Medicine. 54 (5): 553–566. doi:10.1038/s12276-022-00765-5. PMC 9166799. PMID 35501376.
^ ^a ^b Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, et al. (March 2019). "Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails". American Journal of Human Genetics. 104 (3): 520–529. doi:10.1016/j.ajhg.2019.01.006. PMID 30824121.
^ "Orphanet: Trichothiodystrophy". www.orpha.net. Retrieved 2025-03-01.
^ Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, et al. (August 2021). "Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy". Human Molecular Genetics. 30 (18): 1711–1720. doi:10.1093/hmg/ddab123. PMID 33909043.

[refGRCh38Ensembl-1] ENSG00000278191 GRCh38: Ensembl release 89: ENSG00000110619, ENSG00000278191 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000010755 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Sung_2022-5] Sung Y, Yoon I, Han JM, Kim S (May 2022). "Functional and pathologic association of aminoacyl-tRNA synthetases with cancer". Experimental & Molecular Medicine. 54 (5): 553–566. doi:10.1038/s12276-022-00765-5. PMC 9166799. PMID 35501376.

[:0-6] Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, et al. (March 2019). "Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails". American Journal of Human Genetics. 104 (3): 520–529. doi:10.1016/j.ajhg.2019.01.006. PMID 30824121.

[7] "Orphanet: Trichothiodystrophy". www.orpha.net. Retrieved 2025-03-01.

[8] Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, et al. (August 2021). "Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy". Human Molecular Genetics. 30 (18): 1711–1720. doi:10.1093/hmg/ddab123. PMID 33909043.

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