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

Gene ID: 833, updated on 9-Sep-2025
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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See CARS1 in Genome Data Viewer
Location:
11p15.4
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3000929..3057423, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3090162..3146645, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3022159..3078653, complement)

Chromosome 11 - NC_000011 VSports最新版本. 10 .

Go to reference sequence details

Genomic Sequence: NC_000011. 10 Chromosome 11 Reference GRCh38. p14 Primary Assembly NT_187585. 1 Chromosome 11 Reference GRCh38 V体育平台登录. p14 ALT_REF_LOCI_1 NC_060935. 1 Chromosome 11 Alternate T2T-CHM13v2. 0 NC_000011. 9 Chromosome 11 Reference GRCh37. p13 Primary Assembly .

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See details
  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: V体育安卓版 - PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Nucleotide and deduced amino acid sequence of human cysteinyl-tRNA synthetase. Cruzen ME, et al. DNA Seq, 1994. PMID 7987009
  2. Assignment of the cysteinyl-tRNA synthetase gene (CARS) to 11p15.5. Cruzen ME, et al. Genomics, 1993 Mar. PMID 8468064
  3. 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
  4. 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
  5. 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

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions (VSports注册入口)

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. (V体育ios版)
    Title: Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. (V体育ios版)
  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. VSports - 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. "V体育ios版" 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

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
EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
EBI GWAS Catalog
EBI GWAS CatalogPubMed

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

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 ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables aminoacyl-tRNA ligase activity IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
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 ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables tRNA binding IDA
Inferred from Direct Assay
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 
involved_in cysteinyl-tRNA aminoacylation IEA
Inferred from Electronic Annotation
more info
  
involved_in tRNA aminoacylation for protein translation IEA
Inferred from Electronic Annotation
more info
  
involved_in translation IEA
Inferred from Electronic Annotation
more info
  
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 cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
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_001427233.1
NP_001742.1
NP_644802.1
XP_047283628.1
XP_047283630.1
XP_054184847.1
XP_054184848.1
XP_054226099.1
XP_054226101.1

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds VSports. 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 VSports app下载. 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 V体育官网.

    See identical proteins and their annotated locations for NP_001014437. 1 VSports手机版.

    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 V体育安卓版. 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 V体育ios版. 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
    Related
    ENSP00000632779.1, ENST00000962720.1
    Conserved Domains (1) summary
    PTZ00399
    Location:28 → 729
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

  5. VSports - 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. "VSports最新版本" 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_001440304.1 → NP_001427233.1  cysteine--tRNA ligase, cytoplasmic isoform j

    Status: REVIEWED

    Source sequence(s)
    AC108448, AC131971
    UniProtKB/TrEMBL
    A8K067

  9. "VSports app下载" 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

  10. 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_2025_08

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

"VSports手机版" 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_047427672.1 → XP_047283628.1  cysteine--tRNA ligase, cytoplasmic isoform X1

    UniProtKB/TrEMBL
    B4DPV7

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

VSports最新版本 - 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

    UniProtKB/TrEMBL
    B4DPV7

  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_054370124.1 → XP_054226099.1  cysteine--tRNA ligase, cytoplasmic isoform X1

    UniProtKB/TrEMBL
    B4DPV7

  2. 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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