CARS1 - cysteinyl-tRNA synthetase 1 Gene

Also Known as CARS; MDBH; CYSRS; MCDDBH; MGC:11246

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 833

About CARS1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:3,000,929-3,057,423 (from NCBI)

This gene has 15 transcripts (splice variants), 1 gene allele, 203 orthologues, 1 paralogue and is associated with 69 phenotypes. Ubiquitous expression in thyroid (RPKM 12.8), brain (RPKM 10.8) and 25 other tissues.

Summary

This gene encodes a class 1 Aminoacyl-tRNA Synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]

CARS1 Products (9)

mRNA	Protein	Name
NM_001014437.3	NP_001014437.1	cysteine--tRNA ligase, cytoplasmic isoform c
NM_001194997.2	NP_001181926.1	cysteine--tRNA ligase, cytoplasmic isoform e
NM_001378136.1	NP_001365065.1	cysteine--tRNA ligase, cytoplasmic isoform f
NM_001378137.1	NP_001365066.1	cysteine--tRNA ligase, cytoplasmic isoform g
NM_001378138.1	NP_001365067.1	cysteine--tRNA ligase, cytoplasmic isoform h
NM_001378139.1	NP_001365068.1	cysteine--tRNA ligase, cytoplasmic isoform h
NM_001378140.1	NP_001365069.1	cysteine--tRNA ligase, cytoplasmic isoform i
NM_001751.6	NP_001742.1	cysteine--tRNA ligase, cytoplasmic isoform b
NM_139273.4	NP_644802.1	cysteine--tRNA ligase, cytoplasmic isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	17303165	GOA
enables cysteine-tRNA ligase activity	IDA IDA: Inferred from direct assay	10908348	GOA
enables cysteine-tRNA ligase activity	IMP IMP: Inferred from mutant phenotype	30824121	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17303165	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10908348	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	11347887	GOA
enables tRNA binding	IDA IDA: Inferred from direct assay	11347887	GOA
enables tRNA binding	IMP IMP: Inferred from mutant phenotype	17303165	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cysteinyl-tRNA aminoacylation	IDA IDA: Inferred from direct assay	10908348	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11347887	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CARS1 Protein Structure

tRNA-synt_1e

0
200
400
600
748 a.a.

Protein Preferred Names	Protein Names
cysteine--tRNA ligase, cytoplasmic	cysteine tRNA ligase 1, cytoplasmic

CARS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80584	CARS Antibody (YA565)	WB, IHC-P	Human, Rat
HY-P80584A	CARS Antibody (YA565)(PBS only)	WB, IHC-P	Human, Rat

Related Diseases

Diseases	Alias
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	MDBH
Inflammatory Myofibroblastic Tumor	Inflammatory Fibrosarcoma
Secondary Hyperparathyroidism	Hyperparathyroidism Secondary Hyperparathyroidism, Secondary Secondary Hyperparathyroidism Nec
Hypocalcemia, Autosomal Dominant 1	Autosomal Dominant Hypocalcemia Autosomal Dominant Hypocalcemia 1 HYPOC1 Hypocalcemia, Autosomal Dominant Hypercalciuric Hypocalcemia Hypocalcemia, Autosomal Dominant, With Bartter Syndrome Familial Hypocalcemia Hypocalcemia, Familial Hypoc Adh Autosomal Dominant Hypoparathyroidism Familial Hypercalciuric Hypocalcemia Ad Hypocalcemia Autosomal Dominant Hypocalcemia With Bartter Syndrome Hypoparathyroidism - Autosomal Dominant Hypocalcemia
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Fanconi Anemia, Complementation Group D2	Fanconi Anemia Complementation Group D2 FANCD2 Fad2 Fa4 Fancd Fanconi Pancytopenia Type 4 Fanconi Anemia, Complementation Group D Fanconi Pancytopenia, Type 4 Facd Fanconi Anemia Complementation Group D

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0349	Meclizine dihydrochloride		99.95%	Unkown

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01933	CARS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-B0349S	Meclizine-d8		/	Unkown
HY-RS01905	Car1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01906	Car1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CARS1	MGD	MGI:1351477
Felis catus	CARS1	VGNC	VGNC:60374
Canis familiaris	CARS1	VGNC	VGNC:38726
Macaca mulatta	CARS1	VGNC	VGNC:70540
Rattus norvegicus	CARS1	RGD	RGD:1310747
Bos taurus	CARS1	VGNC	VGNC:26773
Others	CARS1	NCBI