CARS1 - cysteinyl-tRNA synthetase 1 Gene

Homo sapiens

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

Gene ID: 833 | Gene type: protein coding

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

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

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

Pre-clinical Phase

Bioactive Molecules (3)

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

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