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Protein

Probable cysteine--tRNA ligase, mitochondrial

Gene

CARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionAminoacyl-tRNA synthetase, Ligase
Biological processProtein biosynthesis
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000134905.16
HGNCiHGNC:25695 CARS2
MIMi612800 gene
neXtProtiNX_Q9HA77

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs557671802EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi79587
MalaCardsiCARS2
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

Interactioni

Protein-protein interaction databases

BioGridi122730, 10 interactors
IntActiQ9HA77, 8 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
OMAiFRMACLL
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
InterProiView protein in InterPro
IPR015803 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
PANTHERiPTHR10890 PTHR10890, 2 hits
PfamiView protein in Pfam
PF01406 tRNA-synt_1e, 1 hit
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 dbSNP:rs557671802EnsemblClinVar.1
Natural variantiVAR_034523440E → K. Corresponds to variant dbSNP:rs965189Ensembl.1
Natural variantiVAR_034524555Q → P1 PublicationCorresponds to variant dbSNP:rs1043886EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022180 mRNA Translation: BAB13978.1
AL157820 Genomic DNA No translation available.
AL139385 Genomic DNA No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiSYCM_HUMAN
AccessioniPrimary (citable) accession number: Q9HA77
Secondary accession number(s): Q8NI84, Q96IV4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: March 1, 2001
Last modified: May 23, 2018
This is version 150 of the entry and version 1 of the sequence. See 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

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