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CARS1 cysteinyl-tRNA synthetase 1 [ Homo sapiens (human) ]

Gene ID: 833, updated on 3-Apr-2024

Summary

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Official Symbol
CARS1provided by HGNC
Official Full Name
cysteinyl-tRNA synthetase 1provided by HGNC
Primary source
HGNC:HGNC:1493
See related
Ensembl:ENSG00000110619 MIM:123859; AllianceGenome:HGNC:1493
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CARS; MDBH; CYSRS; MCDDBH; MGC:11246
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]
Expression
Ubiquitous expression in thyroid (RPKM 12.8), brain (RPKM 10.8) and 25 other tissues See more
Orthologs
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Genomic context

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See CARS1 in Genome Data Viewer
Location:
11p15.4
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3000929..3057423, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3090162..3146645, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3022159..3078653, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2949927-2950535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2950536-2951145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2951146-2951754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2954769-2955381 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2961339-2961515 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2967017-2967632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2967633-2968246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2968247-2968862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2968863-2969476 Neighboring gene pleckstrin homology like domain family A member 2 Neighboring gene NANOG hESC enhancer GRCh37_chr11:2982073-2982579 Neighboring gene nucleosome assembly protein 1 like 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:2986349-2986848 Neighboring gene MPRA-validated peak1165 silencer Neighboring gene small nucleolar RNA, H/ACA box 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:3012128-3012984 Neighboring gene Sharpr-MPRA regulatory region 13774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3035645-3036144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3051685-3052185 Neighboring gene CARS1 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:3061281-3062480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3063691-3064626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3064627-3065562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4307 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3078307-3078839 Neighboring gene uncharacterized LOC124902615 Neighboring gene RNA, U1 small nuclear 91, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3083786-3084412 Neighboring gene MPRA-validated peak1169 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3096337-3096837 Neighboring gene hESC enhancers GRCh37_chr11:3112372-3113180 and GRCh37_chr11:3113181-3113988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3114797-3115604 Neighboring gene oxysterol binding protein like 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3075 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21160 Neighboring gene Sharpr-MPRA regulatory region 6583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3156337-3156944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3156945-3157553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3157554-3158161 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3170165-3170940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3170941-3171714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3171715-3172488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3174611-3175359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3178797-3179602 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:3180024-3180197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3184585-3185278

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. Kuo ME, et al. Am J Hum Genet, 2019 Mar 7. PMID 30824121, Free PMC Article
  2. Polymorphisms in CARS are associated with gastric cancer risk: a two-stage case-control study in the Chinese population. Tian T, et al. Gastric Cancer, 2017 Nov. PMID 28409418
  3. Loss of cysteinyl-tRNA synthetase (CARS) induces the transsulfuration pathway and inhibits ferroptosis induced by cystine deprivation. Hayano M, et al. Cell Death Differ, 2016 Feb. PMID 26184909, Free PMC Article
  4. Assignment of the cysteinyl-tRNA synthetase gene (CARS) to 11p15.5. Cruzen ME, et al. Genomics, 1993 Mar. PMID 8468064
  5. Nucleotide and deduced amino acid sequence of human cysteinyl-tRNA synthetase. Cruzen ME, et al. DNA Seq, 1994. PMID 7987009

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CARS senses cysteine deprivation to activate AMPK for cell survival.
    Title: CARS senses cysteine deprivation to activate AMPK for cell survival.
  2. Endogenous TLR2 ligand embedded in the catalytic region of human cysteinyl-tRNA synthetase 1.
    Title: Endogenous TLR2 ligand embedded in the catalytic region of human cysteinyl-tRNA synthetase 1.
  3. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
    Title: Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
  4. Four single nucleotide polymorphisms (SNPs) of CARS were significantly associated with gastric cancer risk in both the discovery stage and the validation stage
    Title: Polymorphisms in CARS are associated with gastric cancer risk: a two-stage case-control study in the Chinese population.
  5. The risk (G and C) and non-risk (C and T) allele frequencies of the SNPs at the rs1888747 and rs739401 loci of FRMD3 and CARS, respectively, did not differ significantly between the diabetics with (case) and without (control) nephropathy (P > 0.05).
    Title: Evaluation of associations between single nucleotide polymorphisms in the FRMD3 and CARS genes and diabetic nephropathy in a Kuwaiti population.
  6. Loss of CARS, the cysteinyl-tRNA synthetase, suppresses ferroptosis induced by erastin, which inhibits the cystine-glutamate antiporter known as system xc(-).
    Title: Loss of cysteinyl-tRNA synthetase (CARS) induces the transsulfuration pathway and inhibits ferroptosis induced by cystine deprivation.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes.
  8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: A three-stage genome-wide association study of general cognitive ability: hunting the small effects.
  9. CARS is a novel fusion partner of anaplastic lymphoma kinase in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor cases.
    Title: Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.
  10. Specificity of anticodon recognition by human CysRS is higher than that of its bacterial counterparts.
    Title: Kinetic quality control of anticodon recognition by a eukaryotic aminoacyl-tRNA synthetase.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Microcephaly, developmental delay, and brittle hair syndrome
MedGen: C5394425 OMIM: 618891 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Joint influence of small-effect genetic variants on human longevity.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables cysteine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cysteine-tRNA ligase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables tRNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables tRNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cysteinyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cysteinyl-tRNA aminoacylation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
cysteine--tRNA ligase, cytoplasmic
Names
cysteine tRNA ligase 1, cytoplasmic
cysteine translase
NP_001014437.1
NP_001181926.1
NP_001365065.1
NP_001365066.1
NP_001365067.1
NP_001365068.1
NP_001365069.1
NP_001742.1
NP_644802.1
XP_047283628.1
XP_047283629.1
XP_047283630.1
XP_054184847.1
XP_054184848.1
XP_054226099.1
XP_054226100.1
XP_054226101.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001014437.3 → NP_001014437.1  cysteine--tRNA ligase, cytoplasmic isoform c

    See identical proteins and their annotated locations for NP_001014437.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an additional in-frame exon in the 5' coding region, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has an additional segment in the N-terminal region and a distinct and longer C-terminus, compared to isoform a.
    Source sequence(s)
    BX647906
    Consensus CDS
    CCDS41600.1
    UniProtKB/TrEMBL
    B4DPV7
    Related
    ENSP00000369897.4, ENST00000380525.9
    Conserved Domains (3) summary
    cd00672
    Location:113 → 528
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    cd10310
    Location:3 → 76
    GST_C_CysRS_N; Glutathione S-transferase C-terminal-like, alpha helical domain of Cysteinyl-tRNA synthetase from higher eukaryotes
    PTZ00399
    Location:91 → 822
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

  2. NM_001194997.2 → NP_001181926.1  cysteine--tRNA ligase, cytoplasmic isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) includes an additional in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (e) that is longer than isoform a.
    Source sequence(s)
    AC131971, AI432096, AK298514, DC376478
    UniProtKB/TrEMBL
    B4DPV7
    Conserved Domains (3) summary
    cd00672
    Location:113 → 528
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    cd10310
    Location:3 → 76
    GST_C_CysRS_N; Glutathione S-transferase C-terminal-like, alpha helical domain of Cysteinyl-tRNA synthetase from higher eukaryotes
    PTZ00399
    Location:91 → 787
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

  3. NM_001378136.1 → NP_001365065.1  cysteine--tRNA ligase, cytoplasmic isoform f

    Status: REVIEWED

    Source sequence(s)
    AC108448, AC131971, AK296763
    Consensus CDS
    CCDS91411.1
    UniProtKB/TrEMBL
    B4DKY1, E9PPK8, Q53HG6
    Related
    ENSP00000432619.2, ENST00000529772.5
    Conserved Domains (1) summary
    PTZ00399
    Location:28 → 717
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

  4. NM_001378137.1 → NP_001365066.1  cysteine--tRNA ligase, cytoplasmic isoform g

    Status: REVIEWED

    Source sequence(s)
    AC108448, AC131971
    UniProtKB/TrEMBL
    A8MVQ3, B4DI19
    Conserved Domains (1) summary
    PTZ00399
    Location:28 → 729
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

  5. NM_001378138.1 → NP_001365067.1  cysteine--tRNA ligase, cytoplasmic isoform h

    Status: REVIEWED

    Source sequence(s)
    AC108448, AC131971
    UniProtKB/TrEMBL
    B4DI19
    Conserved Domains (1) summary
    PTZ00399
    Location:28 → 694
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

  6. NM_001378139.1 → NP_001365068.1  cysteine--tRNA ligase, cytoplasmic isoform h

    Status: REVIEWED

    Source sequence(s)
    AC108448, AC131971
    UniProtKB/TrEMBL
    B4DI19
    Conserved Domains (1) summary
    PTZ00399
    Location:28 → 694
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

  7. NM_001378140.1 → NP_001365069.1  cysteine--tRNA ligase, cytoplasmic isoform i

    Status: REVIEWED

    Source sequence(s)
    AC108448, AC131971
    UniProtKB/TrEMBL
    B4DI19
    Conserved Domains (1) summary
    PTZ00399
    Location:1 → 647
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

  8. NM_001751.6 → NP_001742.1  cysteine--tRNA ligase, cytoplasmic isoform b

    See identical proteins and their annotated locations for NP_001742.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a longer and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BC002880
    Consensus CDS
    CCDS7742.1
    UniProtKB/Swiss-Prot
    P49589, Q53XI8, Q5HYE4, Q9HD24, Q9HD25
    UniProtKB/TrEMBL
    Q53HG6
    Related
    ENSP00000380300.5, ENST00000397111.9
    Conserved Domains (1) summary
    PTZ00399
    Location:3 → 739
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

  9. NM_139273.4 → NP_644802.1  cysteine--tRNA ligase, cytoplasmic isoform a

    See identical proteins and their annotated locations for NP_644802.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) consists of 22 exons and encodes the shortest isoform (a).
    Source sequence(s)
    AF288207, AI608729, DC376478
    Consensus CDS
    CCDS41602.1
    UniProtKB/TrEMBL
    Q53HG6
    Related
    ENSP00000278224.9, ENST00000278224.13
    Conserved Domains (2) summary
    cd00672
    Location:30 → 445
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    PTZ00399
    Location:3 → 704
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

RNA

  1. NR_036542.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) includes an additional exon in the 5' region, and uses an alternate splice site in both the 5' and 3' regions, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC108448, AI432096, AK096313, DC376478
    Related
    ENST00000531387.5

  2. NR_165428.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108448, AC131971

  3. NR_165429.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108448, AC131971

  4. NR_165430.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108448, AC131971

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    3000929..3057423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427673.1 → XP_047283629.1  cysteine--tRNA ligase, cytoplasmic isoform X2

  2. XM_047427672.1 → XP_047283628.1  cysteine--tRNA ligase, cytoplasmic isoform X1

  3. XM_047427674.1 → XP_047283630.1  cysteine--tRNA ligase, cytoplasmic isoform X3

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187585.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    231991..288455 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328872.1 → XP_054184847.1  cysteine--tRNA ligase, cytoplasmic isoform X1

  2. XM_054328873.1 → XP_054184848.1  cysteine--tRNA ligase, cytoplasmic isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    3090162..3146645 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370125.1 → XP_054226100.1  cysteine--tRNA ligase, cytoplasmic isoform X2

  2. XM_054370124.1 → XP_054226099.1  cysteine--tRNA ligase, cytoplasmic isoform X1

  3. XM_054370126.1 → XP_054226101.1  cysteine--tRNA ligase, cytoplasmic isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001014438.1: Suppressed sequence

    Description
    NM_001014438.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49589.3 GenPept UniProtKB/Swiss-Prot:P49589

Gene LinkOut

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