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Protein

Probable cysteine--tRNA ligase, mitochondrial

Gene

CARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

ATP + L-cysteine + tRNA(Cys) = AMP + diphosphate + L-cysteinyl-tRNA(Cys).

Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi78ZincBy similarity1
Metal bindingi257ZincBy similarity1
Metal bindingi282ZincBy similarity1
Metal bindingi286ZincBy similarity1
Binding sitei320ATPBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Aminoacyl-tRNA synthetase, Ligase

Keywords - Biological processi

Protein biosynthesis

Keywords - Ligandi

ATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS05929-MONOMER.
ReactomeiR-HSA-379726. Mitochondrial tRNA aminoacylation.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable cysteine--tRNA ligase, mitochondrial (EC:6.1.1.16)
Alternative name(s):
Cysteinyl-tRNA synthetase
Short name:
CysRS
Gene namesi
Name:CARS2
ORF Names:OK/SW-cl.10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:25695. CARS2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 27 (COXPD27)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing.
See also OMIM:616672
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075667191 – 218Missing in COXPD27. 1 PublicationAdd BLAST28
Natural variantiVAR_075668217Missing in COXPD27. 1 Publication1
Natural variantiVAR_075669251P → L in COXPD27. 1 PublicationCorresponds to variant rs557671802dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi79587.
MIMi616672. phenotype.
OpenTargetsiENSG00000134905.
PharmGKBiPA162381083.

Chemistry databases

DrugBankiDB00151. L-Cysteine.

Polymorphism and mutation databases

BioMutaiCARS2.
DMDMi74761587.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000250741? – 564Probable cysteine--tRNA ligase, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Proteomic databases

EPDiQ9HA77.
MaxQBiQ9HA77.
PaxDbiQ9HA77.
PeptideAtlasiQ9HA77.
PRIDEiQ9HA77.

PTM databases

iPTMnetiQ9HA77.
PhosphoSitePlusiQ9HA77.
SwissPalmiQ9HA77.

Expressioni

Gene expression databases

BgeeiENSG00000134905.
CleanExiHS_CARS2.
ExpressionAtlasiQ9HA77. baseline and differential.
GenevisibleiQ9HA77. HS.

Organism-specific databases

HPAiHPA041776.
HPA043935.

Interactioni

Protein-protein interaction databases

BioGridi122730. 7 interactors.
IntActiQ9HA77. 3 interactors.
STRINGi9606.ENSP00000257347.

Structurei

3D structure databases

ProteinModelPortaliQ9HA77.
SMRiQ9HA77.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi80 – 90"HIGH" regionAdd BLAST11
Motifi317 – 321"KMSKS" region5

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2007. Eukaryota.
COG0215. LUCA.
GeneTreeiENSGT00390000006347.
HOGENOMiHOG000245250.
HOVERGENiHBG094012.
InParanoidiQ9HA77.
KOiK01883.
OMAiMKGQLAC.
OrthoDBiEOG091G03N1.
PhylomeDBiQ9HA77.
TreeFamiTF300384.

Family and domain databases

CDDicd00672. CysRS_core. 1 hit.
Gene3Di3.40.50.620. 1 hit.
HAMAPiMF_00041. Cys_tRNA_synth. 1 hit.
InterProiIPR015803. Cys-tRNA-ligase.
IPR024909. Cys-tRNA/MSH_ligase.
IPR014729. Rossmann-like_a/b/a_fold.
IPR032678. tRNA-synt_1_cat_dom.
IPR009080. tRNAsynth_Ia_anticodon-bd.
[Graphical view]
PANTHERiPTHR10890. PTHR10890. 1 hit.
PfamiPF01406. tRNA-synt_1e. 1 hit.
[Graphical view]
PRINTSiPR00983. TRNASYNTHCYS.
SUPFAMiSSF47323. SSF47323. 1 hit.
TIGRFAMsiTIGR00435. cysS. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9HA77-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLRTTRGPGL GPPLLQAALG LGRAGWHWPA GRAASGGRGR AWLQPTGRET
60 70 80 90 100
GVQVYNSLTG RKEPLIVAHA EAASWYSCGP TVYDHAHLGH ACSYVRFDII
110 120 130 140 150
RRILTKVFGC SIVMVMGITD VDDKIIKRAN EMNISPASLA SLYEEDFKQD
160 170 180 190 200
MAALKVLPPT VYLRVTENIP QIISFIEGII ARGNAYSTAK GNVYFDLKSR
210 220 230 240 250
GDKYGKLVGV VPGPVGEPAD SDKRHASDFA LWKAAKPQEV FWASPWGPGR
260 270 280 290 300
PGWHIECSAI ASMVFGSQLD IHSGGIDLAF PHHENEIAQC EVFHQCEQWG
310 320 330 340 350
NYFLHSGHLH AKGKEEKMSK SLKNYITIKD FLKTFSPDVF RFFCLRSSYR
360 370 380 390 400
SAIDYSDSAM LQAQQLLLGL GSFLEDARAY MKGQLACGSV REAMLWERLS
410 420 430 440 450
STKRAVKAAL ADDFDTPRVV DAILGLAHHG NGQLRASLKE PEGPRSPAVF
460 470 480 490 500
GAIISYFEQF FETVGISLAN QQYVSGDGSE ATLHGVVDEL VRFRQKVRQF
510 520 530 540 550
ALAMPEATGD ARRQQLLERQ PLLEACDTLR RGLTAHGINI KDRSSTTSTW
560
ELLDQRTKDQ KSAG
Length:564
Mass (Da):62,224
Last modified:March 1, 2001 - v1
Checksum:i92F8B615E6657D50
GO

Sequence cautioni

The sequence BAB93499 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti182 – 202RGNAY…KSRGD → SWERLFNGKRQCLLRSESLE ET in BAB93499 (Ref. 4) CuratedAdd BLAST21
Sequence conflicti207 – 223LVGVV…ADSDK → IGRRGPWSSPETSGLLTS in BAB93499 (Ref. 4) CuratedAdd BLAST17
Sequence conflicti227S → N in BAB93499 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075667191 – 218Missing in COXPD27. 1 PublicationAdd BLAST28
Natural variantiVAR_075668217Missing in COXPD27. 1 Publication1
Natural variantiVAR_075669251P → L in COXPD27. 1 PublicationCorresponds to variant rs557671802dbSNPEnsembl.1
Natural variantiVAR_034523440E → K.Corresponds to variant rs965189dbSNPEnsembl.1
Natural variantiVAR_034524555Q → P.1 PublicationCorresponds to variant rs1043886dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022180 mRNA. Translation: BAB13978.1.
AL157820, AL139385 Genomic DNA. Translation: CAI16971.1.
AL139385, AL157820 Genomic DNA. Translation: CAI17004.1.
BC007220 mRNA. Translation: AAH07220.1.
AB062436 mRNA. Translation: BAB93499.1. Different initiation.
CCDSiCCDS9514.1.
RefSeqiNP_078813.1. NM_024537.3.
UniGeneiHs.508725.

Genome annotation databases

EnsembliENST00000257347; ENSP00000257347; ENSG00000134905.
GeneIDi79587.
KEGGihsa:79587.
UCSCiuc001vrd.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022180 mRNA. Translation: BAB13978.1.
AL157820, AL139385 Genomic DNA. Translation: CAI16971.1.
AL139385, AL157820 Genomic DNA. Translation: CAI17004.1.
BC007220 mRNA. Translation: AAH07220.1.
AB062436 mRNA. Translation: BAB93499.1. Different initiation.
CCDSiCCDS9514.1.
RefSeqiNP_078813.1. NM_024537.3.
UniGeneiHs.508725.

3D structure databases

ProteinModelPortaliQ9HA77.
SMRiQ9HA77.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122730. 7 interactors.
IntActiQ9HA77. 3 interactors.
STRINGi9606.ENSP00000257347.

Chemistry databases

DrugBankiDB00151. L-Cysteine.

PTM databases

iPTMnetiQ9HA77.
PhosphoSitePlusiQ9HA77.
SwissPalmiQ9HA77.

Polymorphism and mutation databases

BioMutaiCARS2.
DMDMi74761587.

Proteomic databases

EPDiQ9HA77.
MaxQBiQ9HA77.
PaxDbiQ9HA77.
PeptideAtlasiQ9HA77.
PRIDEiQ9HA77.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257347; ENSP00000257347; ENSG00000134905.
GeneIDi79587.
KEGGihsa:79587.
UCSCiuc001vrd.3. human.

Organism-specific databases

CTDi79587.
DisGeNETi79587.
GeneCardsiCARS2.
HGNCiHGNC:25695. CARS2.
HPAiHPA041776.
HPA043935.
MIMi612800. gene.
616672. phenotype.
neXtProtiNX_Q9HA77.
OpenTargetsiENSG00000134905.
PharmGKBiPA162381083.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2007. Eukaryota.
COG0215. LUCA.
GeneTreeiENSGT00390000006347.
HOGENOMiHOG000245250.
HOVERGENiHBG094012.
InParanoidiQ9HA77.
KOiK01883.
OMAiMKGQLAC.
OrthoDBiEOG091G03N1.
PhylomeDBiQ9HA77.
TreeFamiTF300384.

Enzyme and pathway databases

BioCyciZFISH:HS05929-MONOMER.
ReactomeiR-HSA-379726. Mitochondrial tRNA aminoacylation.

Miscellaneous databases

ChiTaRSiCARS2. human.
GenomeRNAii79587.
PROiQ9HA77.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134905.
CleanExiHS_CARS2.
ExpressionAtlasiQ9HA77. baseline and differential.
GenevisibleiQ9HA77. HS.

Family and domain databases

CDDicd00672. CysRS_core. 1 hit.
Gene3Di3.40.50.620. 1 hit.
HAMAPiMF_00041. Cys_tRNA_synth. 1 hit.
InterProiIPR015803. Cys-tRNA-ligase.
IPR024909. Cys-tRNA/MSH_ligase.
IPR014729. Rossmann-like_a/b/a_fold.
IPR032678. tRNA-synt_1_cat_dom.
IPR009080. tRNAsynth_Ia_anticodon-bd.
[Graphical view]
PANTHERiPTHR10890. PTHR10890. 1 hit.
PfamiPF01406. tRNA-synt_1e. 1 hit.
[Graphical view]
PRINTSiPR00983. TRNASYNTHCYS.
SUPFAMiSSF47323. SSF47323. 1 hit.
TIGRFAMsiTIGR00435. cysS. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSYCM_HUMAN
AccessioniPrimary (citable) accession number: Q9HA77
Secondary accession number(s): Q8NI84, Q96IV4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.