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CARS cysteinyl-tRNA synthetase [ Homo sapiens (human) ]

Gene ID: 833, updated on 8-Dec-2018

Summary

Official Symbol
CARSprovided by HGNC
Official Full Name
cysteinyl-tRNA synthetaseprovided by HGNC
Primary source
HGNC:HGNC:1493
See related
Ensembl:ENSG00000110619 MIM:123859
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
CARS1; CYSRS; 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

Genomic context

See CARS in Genome Data Viewer
Location:
11p15.4
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (3000922..3057451, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3022152..3078681, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene pleckstrin homology like domain family A member 2 Neighboring gene nucleosome assembly protein 1 like 4 Neighboring gene small nucleolar RNA, H/ACA box 54 Neighboring gene CARS antisense RNA 1 Neighboring gene RNA, U1 small nuclear 91, pseudogene Neighboring gene oxysterol binding protein like 5 Neighboring gene uncharacterized LOC107987158 Neighboring gene MRGPRG antisense RNA 1 Neighboring gene MAS related GPR family member G

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
cysteine--tRNA ligase, cytoplasmic
Names
cysteine tRNA ligase 1, cytoplasmic
cysteine translase
NP_001014437.1
NP_001181926.1
NP_001742.1
NP_644802.1
XP_006718404.1
XP_016873878.1
XP_016873879.1
XP_016873880.1
XP_016873881.1
XP_024304469.1
XP_024304470.1
XP_024304471.1
XP_024304472.1
XP_024304473.1

NCBI Reference Sequences (RefSeq)

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_001014437.2NP_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)
    AI432096, BX647906, DC376478
    Consensus CDS
    CCDS41600.1
    UniProtKB/Swiss-Prot
    P49589
    Related
    ENSP00000369897.4, ENST00000380525.8
    Conserved Domains (3) summary
    cd00672
    Location:113528
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    cd10310
    Location:376
    GST_C_CysRS_N; Glutathione S-transferase C-terminal-like, alpha helical domain of Cysteinyl-tRNA synthetase from higher eukaryotes
    PTZ00399
    Location:91822
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
  2. NM_001194997.1NP_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:113528
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    cd10310
    Location:376
    GST_C_CysRS_N; Glutathione S-transferase C-terminal-like, alpha helical domain of Cysteinyl-tRNA synthetase from higher eukaryotes
    PTZ00399
    Location:91787
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
  3. NM_001751.5NP_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)
    AI432096, BC002880, DC376478
    Consensus CDS
    CCDS7742.1
    UniProtKB/Swiss-Prot
    P49589
    UniProtKB/TrEMBL
    A0A024RCG3
    Related
    ENSP00000380300.5, ENST00000397111.9
    Conserved Domains (1) summary
    PTZ00399
    Location:3739
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
  4. NM_139273.3NP_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, AI432096, AI608729, DC376478
    Consensus CDS
    CCDS41602.1
    UniProtKB/Swiss-Prot
    P49589
    Related
    ENSP00000278224.9, ENST00000278224.13
    Conserved Domains (2) summary
    cd00672
    Location:30445
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    PTZ00399
    Location:3704
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional

RNA

  1. NR_036542.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    3000922..3057451 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718341.3XP_006718404.1  cysteine--tRNA ligase, cytoplasmic isoform X5

    See identical proteins and their annotated locations for XP_006718404.1

    UniProtKB/TrEMBL
    A8MVQ3
    Conserved Domains (2) summary
    cd00672
    Location:28435
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    PTZ00399
    Location:28729
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
  2. XM_017018389.1XP_016873878.1  cysteine--tRNA ligase, cytoplasmic isoform X6

  3. XM_024448703.1XP_024304471.1  cysteine--tRNA ligase, cytoplasmic isoform X3

    Conserved Domains (1) summary
    PTZ00399
    Location:3775
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
  4. XM_024448701.1XP_024304469.1  cysteine--tRNA ligase, cytoplasmic isoform X1

    Conserved Domains (2) summary
    cd10310
    Location:376
    GST_C_CysRS_N; Glutathione S-transferase C-terminal-like, alpha helical domain of Cysteinyl-tRNA synthetase from higher eukaryotes
    PTZ00399
    Location:91858
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
  5. XM_024448702.1XP_024304470.1  cysteine--tRNA ligase, cytoplasmic isoform X2

    Conserved Domains (2) summary
    cd10310
    Location:376
    GST_C_CysRS_N; Glutathione S-transferase C-terminal-like, alpha helical domain of Cysteinyl-tRNA synthetase from higher eukaryotes
    PTZ00399
    Location:91823
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
  6. XM_017018390.1XP_016873879.1  cysteine--tRNA ligase, cytoplasmic isoform X6

  7. XM_024448704.1XP_024304472.1  cysteine--tRNA ligase, cytoplasmic isoform X4

    Conserved Domains (1) summary
    PTZ00399
    Location:28765
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
  8. XM_017018392.2XP_016873881.1  cysteine--tRNA ligase, cytoplasmic isoform X9

    UniProtKB/TrEMBL
    B4DKY1
    Related
    ENSP00000432619.2, ENST00000529772.5
    Conserved Domains (2) summary
    cd00672
    Location:43458
    CysRS_core; catalytic core domain of cysteinyl tRNA synthetase
    PTZ00399
    Location:28717
    PTZ00399; cysteinyl-tRNA-synthetase; Provisional
  9. XM_017018391.1XP_016873880.1  cysteine--tRNA ligase, cytoplasmic isoform X8

  10. XM_024448705.1XP_024304473.1  cysteine--tRNA ligase, cytoplasmic isoform X7

    Conserved Domains (1) summary
    cl27478
    Location:1683
    tRNA-synt_1e; tRNA synthetases class I (C) catalytic domain

RNA

  1. XR_001747995.2 RNA Sequence

  2. XR_001747996.2 RNA Sequence

  3. XR_930913.1 RNA Sequence

  4. XR_930914.2 RNA Sequence

  5. XR_001747998.1 RNA Sequence

  6. XR_002957203.1 RNA Sequence

  7. XR_002957204.1 RNA Sequence

  8. XR_001747997.1 RNA Sequence

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187585.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    231984..288483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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