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... See more...

Aliases for CARS1 Gene

Aliases for CARS1 Gene

  • Cysteinyl-TRNA Synthetase 1 2 3 5
  • Cysteine TRNA Ligase 1, Cytoplasmic 2 3
  • Cysteine--TRNA Ligase, Cytoplasmic 3 4
  • Cysteinyl-TRNA Synthetase 2 4
  • EC 6.1.1.16 4 50
  • CARS 3 4
  • Cysteine Translase 3
  • MGC:11246 3
  • EC 6.1.1 50
  • MCDDBH 3
  • CYSRS 3
  • CARS1 5
  • CysRS 4
  • MDBH 3

External Ids for CARS1 Gene

Previous HGNC Symbols for CARS1 Gene

  • CARS

Summaries for CARS1 Gene

Entrez Gene Summary for CARS1 Gene

  • 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]

GeneCards Summary for CARS1 Gene

CARS1 (Cysteinyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with CARS1 include Microcephaly, Developmental Delay, And Brittle Hair Syndrome and Inflammatory Myofibroblastic Tumor. Among its related pathways are tRNA Aminoacylation and Gene Expression. An important paralog of this gene is CARS2.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CARS1 Gene

Genomics for CARS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CARS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CARS1

Genomic Locations for CARS1 Gene

Latest Assembly
chr11:3,000,922-3,057,613
(GRCh38/hg38)
Size:
56,692 bases
Orientation:
Minus strand

Previous Assembly
chr11:3,022,159-3,078,653
(GRCh37/hg19 by Entrez Gene)
Size:
56,495 bases
Orientation:
Minus strand

chr11:3,022,152-3,078,843
(GRCh37/hg19 by Ensembl)
Size:
56,692 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr11(ALT_REF_LOCI_1):231,991-288,455 (-)

Genomic View for CARS1 Gene

Genes around CARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARS1 Gene

Proteins for CARS1 Gene

  • Protein details for CARS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49589-SYCC_HUMAN
    Recommended name:
    Cysteine--tRNA ligase, cytoplasmic
    Protein Accession:
    P49589
    Secondary Accessions:
    • Q53XI8
    • Q5HYE4
    • Q9HD24
    • Q9HD25

    Protein attributes for CARS1 Gene

    Size:
    748 amino acids
    Molecular mass:
    85473 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAA73901.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Found in 20% of the mRNAs.

    Alternative splice isoforms for CARS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARS1 Gene

Selected DME Specific Peptides for CARS1 Gene

P49589:
  • KMSKSLKN
  • CGPTVYD
  • LQLSDALRD
  • LQEGEGDLS
  • TDIDDKII
  • DRLSEKRS
  • GRPGWHIE
  • LYNSLTR
  • NEFFLNVKD
  • KPGEPSW
  • KMSKSLKNF
  • RARQNHLF
  • RPGWHIECS
  • QLRLAFL
  • WKDTLDYSSNTMESA
  • LHLYNSL
  • DKIIKRA
  • DLLSDWLD
  • DFALWKA
  • WHIECSAM
  • NITDIDDKI

Post-translational modifications for CARS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CARS1 Gene

Gene Families for CARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CARS1 Gene

Suggested Antigen Peptide Sequences for CARS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ38994 fis, clone NT2RI2009259, highly similar to Cysteinyl-tRNA synthetase (EC 6.1.1.16) (A8MVQ3_HUMAN)
  • cDNA FLJ59563, highly similar to Cysteinyl-tRNA synthetase (EC 6.1.1.16) (B4DKY1_HUMAN)
  • Cysteine--tRNA ligase (SYCC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49589

UniProtKB/Swiss-Prot:

SYCC_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with CARS1: view

Function for CARS1 Gene

Molecular function for CARS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-cysteine + tRNA(Cys) = AMP + diphosphate + L-cysteinyl-tRNA(Cys); Xref=Rhea:RHEA:17773, Rhea:RHEA-COMP:9661, Rhea:RHEA-COMP:9679, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:35235, ChEBI:CHEBI:78442, ChEBI:CHEBI:78517, ChEBI:CHEBI:456215; EC=6.1.1.16;.

Enzyme Numbers (IUBMB) for CARS1 Gene

Phenotypes From GWAS Catalog for CARS1 Gene

Gene Ontology (GO) - Molecular Function for CARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding NAS 7987009
GO:0000166 nucleotide binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004817 cysteine-tRNA ligase activity IEA,IDA 10908348
GO:0005515 protein binding IPI 10908348
genes like me logo Genes that share ontologies with CARS1: view
genes like me logo Genes that share phenotypes with CARS1: view

Human Phenotype Ontology for CARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARS1

Clone products for research

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CARS1 Gene

Localization for CARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CARS1 gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 11347887
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with CARS1: view

Pathways & Interactions for CARS1 Gene

PathCards logo

SuperPathways for CARS1 Gene

genes like me logo Genes that share pathways with CARS1: view

Pathways by source for CARS1 Gene

1 KEGG pathway for CARS1 Gene

Gene Ontology (GO) - Biological Process for CARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006423 cysteinyl-tRNA aminoacylation IEA,IDA 10908348
genes like me logo Genes that share ontologies with CARS1: view

No data available for SIGNOR curated interactions for CARS1 Gene

Drugs & Compounds for CARS1 Gene

(7) Drugs for CARS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cysteine Approved Nutra Target, substrate 278
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(7) Additional Compounds for CARS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with CARS1: view

Transcripts for CARS1 Gene

mRNA/cDNA for CARS1 Gene

10 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARS1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for CARS1 Gene

No ASD Table

Relevant External Links for CARS1 Gene

GeneLoc Exon Structure for
CARS1

Expression for CARS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CARS1

SOURCE GeneReport for Unigene cluster for CARS1 Gene:

Hs.274873

Evidence on tissue expression from TISSUES for CARS1 Gene

  • Nervous system(4.9)
  • Lung(4.4)
  • Liver(4.4)
  • Kidney(3.4)
  • Skin(3.3)
  • Intestine(2.8)
  • Pancreas(2.1)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CARS1 Gene

Orthologs for CARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CARS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CARS 29 30
  • 99.56 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cars 29 16 30
  • 86.08 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CARS 29 30
  • 85.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cars 29
  • 85.35 (n)
Cow
(Bos Taurus)
Mammalia CARS 29 30
  • 81.22 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CARS 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CARS 29 30
  • 75.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CARS 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cars 29
  • 71.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia cars-prov 29
Zebrafish
(Danio rerio)
Actinopterygii cars 29 30
  • 68.98 (n)
OneToOne
Dr.24192 29
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-cys 29 30
  • 61.5 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012283 29
  • 60.04 (n)
Worm
(Caenorhabditis elegans)
Secernentea cars-1 29 30
  • 56.93 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YNL247W 29
  • 51.67 (n)
-- 30
  • 44 (a)
OneToMany
-- 32
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C03025g 29
  • 50.55 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SYCO ARATH 29
  • 47.79 (n)
Rice
(Oryza sativa)
Liliopsida Os09g0556500 29
  • 51.83 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.2722 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7234 30
  • 59 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC29E6.06c 29
  • 50.7 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14611 29
Species where no ortholog for CARS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CARS1 Gene

ENSEMBL:
Gene Tree for CARS1 (if available)
TreeFam:
Gene Tree for CARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CARS1: view image
Alliance of Genome Resources:
Additional Orthologs for CARS1

Paralogs for CARS1 Gene

Paralogs for CARS1 Gene

Pseudogenes.org Pseudogenes for CARS1 Gene

genes like me logo Genes that share paralogs with CARS1: view

Variants for CARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CARS1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
877075 Pathogenic: Microcephaly, developmental delay, and brittle hair syndrome 3,002,020(-) T/TG
NM_001014437.3(CARS1):c.2310dup (p.Ser771fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
877076 Pathogenic: Microcephaly, developmental delay, and brittle hair syndrome 3,019,263(-) C/T
NM_001014437.3(CARS1):c.1271G>A (p.Arg424His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
877077 Pathogenic: Microcephaly, developmental delay, and brittle hair syndrome 3,019,147(-) G/A
NM_001014437.3(CARS1):c.1387C>T (p.Gln463Ter)
NONSENSE,NON_CODING_TRANSCRIPT
877078 Pathogenic: Microcephaly, developmental delay, and brittle hair syndrome 3,018,697(-) A/T
NM_001014437.3(CARS1):c.1448T>A (p.Leu483Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
877079 Pathogenic: Microcephaly, developmental delay, and brittle hair syndrome 3,019,209(-) G/A
NM_001014437.3(CARS1):c.1325C>T (p.Ser442Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CARS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CARS1 Gene

Variant ID Type Subtype PubMed ID
esv2668116 CNV deletion 23128226
esv3625132 CNV gain 21293372
esv3625133 CNV loss 21293372
nsv819979 CNV loss 19587683
nsv825716 CNV gain 20364138
nsv8766 CNV loss 18304495

Variation tolerance for CARS1 Gene

Residual Variation Intolerance Score: 52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.13; 80.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARS1
Leiden Open Variation Database (LOVD)
CARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARS1 Gene

Disorders for CARS1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CARS1 Gene - From: OMI, CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYCC_HUMAN
  • Note=A chromosomal aberration involving CARS is associated with inflammatory myofibroblastic tumors (IMTs). Translocation t(2;11)(p23;p15) with ALK.

Additional Disease Information for CARS1

genes like me logo Genes that share disorders with CARS1: view

No data available for Genatlas for CARS1 Gene

Publications for CARS1 Gene

  1. Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. (PMID: 12112524) Cools J … Marynen P (Genes, chromosomes & cancer 2002) 3 4 72
  2. Isolation of two cDNAs encoding functional human cytoplasmic cysteinyl-tRNA synthetase. (PMID: 11347887) Davidson E … King MP (Biological chemistry 2001) 3 4 22
  3. Nucleotide and deduced amino acid sequence of human cysteinyl-tRNA synthetase. (PMID: 7987009) Cruzen ME … Arfin SM (DNA sequence : the journal of DNA sequencing and mapping 1994) 3 4 22
  4. Assignment of the cysteinyl-tRNA synthetase gene (CARS) to 11p15.5. (PMID: 8468064) Cruzen ME … Arfin SM (Genomics 1993) 2 3 22
  5. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. (PMID: 30824121) Kuo ME … Mancini GMS (American journal of human genetics 2019) 3 72

Products for CARS1 Gene

Sources for CARS1 Gene