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Q5T160

- SYRM_HUMAN

UniProt

Q5T160 - SYRM_HUMAN

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Protein

Probable arginine--tRNA ligase, mitochondrial

Gene
RARS2, RARSL
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

ATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl-tRNA(Arg).

GO - Molecular functioni

  1. arginine-tRNA ligase activity Source: UniProtKB-EC
  2. ATP binding Source: UniProtKB-KW
  3. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. arginyl-tRNA aminoacylation Source: InterPro
  2. gene expression Source: Reactome
  3. tRNA aminoacylation for protein translation Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Aminoacyl-tRNA synthetase, Ligase

Keywords - Biological processi

Protein biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_15302. Mitochondrial tRNA aminoacylation.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable arginine--tRNA ligase, mitochondrial (EC:6.1.1.19)
Alternative name(s):
Arginyl-tRNA synthetase
Short name:
ArgRS
Gene namesi
Name:RARS2
Synonyms:RARSL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21406. RARS2.

Subcellular locationi

Mitochondrion matrix By similarity

GO - Cellular componenti

  1. mitochondrial matrix Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Pontocerebellar hypoplasia 6 (PCH6) [MIM:611523]: A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Pontocerebellar hypoplasia

Organism-specific databases

MIMi611523. phenotype.
Orphaneti2254. Pontocerebellar hypoplasia type 1.
166073. Pontocerebellar hypoplasia type 6.
PharmGKBiPA162400662.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 1616Mitochondrion Reviewed predictionAdd
BLAST
Chaini17 – 578562Probable arginine--tRNA ligase, mitochondrialPRO_0000250731Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei568 – 5681N6-acetyllysine By similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ5T160.
PaxDbiQ5T160.
PRIDEiQ5T160.

PTM databases

PhosphoSiteiQ5T160.

Expressioni

Gene expression databases

ArrayExpressiQ5T160.
BgeeiQ5T160.
CleanExiHS_RARS2.
GenevestigatoriQ5T160.

Organism-specific databases

HPAiHPA039987.
HPA042645.

Interactioni

Protein-protein interaction databases

BioGridi121334. 2 interactions.
IntActiQ5T160. 3 interactions.
STRINGi9606.ENSP00000358549.

Structurei

3D structure databases

ProteinModelPortaliQ5T160.
SMRiQ5T160. Positions 4-578.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi133 – 14412"HIGH" regionAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0018.
HOGENOMiHOG000247211.
HOVERGENiHBG057355.
KOiK01887.
OMAiELGDMQA.
OrthoDBiEOG7DNNTT.
PhylomeDBiQ5T160.
TreeFamiTF300888.

Family and domain databases

Gene3Di1.10.730.10. 1 hit.
3.30.1360.70. 1 hit.
3.40.50.620. 1 hit.
InterProiIPR001412. aa-tRNA-synth_I_CS.
IPR001278. Arg-tRNA-ligase.
IPR005148. Arg-tRNA-synth_N.
IPR008909. DALR_anticod-bd.
IPR014729. Rossmann-like_a/b/a_fold.
IPR009080. tRNAsynth_1a_anticodon-bd.
[Graphical view]
PANTHERiPTHR11956. PTHR11956. 1 hit.
PfamiPF05746. DALR_1. 1 hit.
PF00750. tRNA-synt_1d. 1 hit.
[Graphical view]
PRINTSiPR01038. TRNASYNTHARG.
SMARTiSM00836. DALR_1. 1 hit.
[Graphical view]
SUPFAMiSSF47323. SSF47323. 1 hit.
SSF55190. SSF55190. 1 hit.
TIGRFAMsiTIGR00456. argS. 1 hit.
PROSITEiPS00178. AA_TRNA_LIGASE_I. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q5T160-1 [UniParc]FASTAAdd to Basket

« Hide

MACGFRRAIA CQLSRVLNLP PENLITSISA VPISQKEEVA DFQLSVDSLL    50
EKDNDHSRPD IQVQAKRLAE KLRCDTVVSE ISTGQRTVNF KINRELLTKT 100
VLQQVIEDGS KYGLKSELFS GLPQKKIVVE FSSPNVAKKF HVGHLRSTII 150
GNFIANLKEA LGHQVIRINY LGDWGMQFGL LGTGFQLFGY EEKLQSNPLQ 200
HLFEVYVQVN KEAADDKSVA KAAQEFFQRL ELGDVQALSL WQKFRDLSIE 250
EYIRVYKRLG VYFDEYSGES FYREKSQEVL KLLESKGLLL KTIKGTAVVD 300
LSGNGDPSSI CTVMRSDGTS LYATRDLAAA IDRMDKYNFD TMIYVTDKGQ 350
KKHFQQVFQM LKIMGYDWAE RCQHVPFGVV QGMKTRRGDV TFLEDVLNEI 400
QLRMLQNMAS IKTTKELKNP QETAERVGLA ALIIQDFKGL LLSDYKFSWD 450
RVFQSRGDTG VFLQYTHARL HSLEETFGCG YLNDFNTACL QEPQSVSILQ 500
HLLRFDEVLY KSSQDFQPRH IVSYLLTLSH LAAVAHKTLQ IKDSPPEVAG 550
ARLHLFKAVR SVLANGMKLL GITPVCRM 578
Length:578
Mass (Da):65,505
Last modified:December 21, 2004 - v1
Checksum:i682075D065D88F82
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti291 – 2911K → R.1 Publication
Corresponds to variant rs17850652 [ dbSNP | Ensembl ].
VAR_037800
Natural varianti331 – 3311I → V.1 Publication
Corresponds to variant rs3757370 [ dbSNP | Ensembl ].
VAR_037801
Natural varianti367 – 3671D → G.
Corresponds to variant rs1108758 [ dbSNP | Ensembl ].
VAR_037802

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti48 – 481S → P in BAB14608. 1 Publication
Sequence conflicti149 – 1491I → V in BAB14608. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK023550 mRNA. Translation: BAB14608.1.
AK315669 mRNA. Translation: BAG38034.1.
AL451126, AL049697 Genomic DNA. Translation: CAI10899.1.
AL049697, AL451126 Genomic DNA. Translation: CAI20376.1.
CH471051 Genomic DNA. Translation: EAW48584.1.
BC010420 mRNA. Translation: AAH10420.1.
CCDSiCCDS5011.1.
RefSeqiNP_064716.2. NM_020320.3.
UniGeneiHs.485910.

Genome annotation databases

EnsembliENST00000369536; ENSP00000358549; ENSG00000146282.
GeneIDi57038.
KEGGihsa:57038.
UCSCiuc003pmc.3. human.

Polymorphism databases

DMDMi74744409.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK023550 mRNA. Translation: BAB14608.1 .
AK315669 mRNA. Translation: BAG38034.1 .
AL451126 , AL049697 Genomic DNA. Translation: CAI10899.1 .
AL049697 , AL451126 Genomic DNA. Translation: CAI20376.1 .
CH471051 Genomic DNA. Translation: EAW48584.1 .
BC010420 mRNA. Translation: AAH10420.1 .
CCDSi CCDS5011.1.
RefSeqi NP_064716.2. NM_020320.3.
UniGenei Hs.485910.

3D structure databases

ProteinModelPortali Q5T160.
SMRi Q5T160. Positions 4-578.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121334. 2 interactions.
IntActi Q5T160. 3 interactions.
STRINGi 9606.ENSP00000358549.

PTM databases

PhosphoSitei Q5T160.

Polymorphism databases

DMDMi 74744409.

Proteomic databases

MaxQBi Q5T160.
PaxDbi Q5T160.
PRIDEi Q5T160.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369536 ; ENSP00000358549 ; ENSG00000146282 .
GeneIDi 57038.
KEGGi hsa:57038.
UCSCi uc003pmc.3. human.

Organism-specific databases

CTDi 57038.
GeneCardsi GC06M088281.
HGNCi HGNC:21406. RARS2.
HPAi HPA039987.
HPA042645.
MIMi 611523. phenotype.
611524. gene.
neXtProti NX_Q5T160.
Orphaneti 2254. Pontocerebellar hypoplasia type 1.
166073. Pontocerebellar hypoplasia type 6.
PharmGKBi PA162400662.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0018.
HOGENOMi HOG000247211.
HOVERGENi HBG057355.
KOi K01887.
OMAi ELGDMQA.
OrthoDBi EOG7DNNTT.
PhylomeDBi Q5T160.
TreeFami TF300888.

Enzyme and pathway databases

Reactomei REACT_15302. Mitochondrial tRNA aminoacylation.

Miscellaneous databases

ChiTaRSi RARS2. human.
GenomeRNAii 57038.
NextBioi 62793.
PROi Q5T160.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q5T160.
Bgeei Q5T160.
CleanExi HS_RARS2.
Genevestigatori Q5T160.

Family and domain databases

Gene3Di 1.10.730.10. 1 hit.
3.30.1360.70. 1 hit.
3.40.50.620. 1 hit.
InterProi IPR001412. aa-tRNA-synth_I_CS.
IPR001278. Arg-tRNA-ligase.
IPR005148. Arg-tRNA-synth_N.
IPR008909. DALR_anticod-bd.
IPR014729. Rossmann-like_a/b/a_fold.
IPR009080. tRNAsynth_1a_anticodon-bd.
[Graphical view ]
PANTHERi PTHR11956. PTHR11956. 1 hit.
Pfami PF05746. DALR_1. 1 hit.
PF00750. tRNA-synt_1d. 1 hit.
[Graphical view ]
PRINTSi PR01038. TRNASYNTHARG.
SMARTi SM00836. DALR_1. 1 hit.
[Graphical view ]
SUPFAMi SSF47323. SSF47323. 1 hit.
SSF55190. SSF55190. 1 hit.
TIGRFAMsi TIGR00456. argS. 1 hit.
PROSITEi PS00178. AA_TRNA_LIGASE_I. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-331.
    Tissue: Placenta and Testis.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-291.
    Tissue: Uterus.
  5. "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS."
    Bonnefond L., Fender A., Rudinger-Thirion J., Giege R., Florentz C., Sissler M.
    Biochemistry 44:4805-4816(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  6. "Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia."
    Edvardson S., Shaag A., Kolesnikova O., Gomori J.M., Tarassov I., Einbinder T., Saada A., Elpeleg O.
    Am. J. Hum. Genet. 81:857-862(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PCH6.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSYRM_HUMAN
AccessioniPrimary (citable) accession number: Q5T160
Secondary accession number(s): B2RDT7, Q96FU5, Q9H8K8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: December 21, 2004
Last modified: September 3, 2014
This is version 97 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 6
    Human chromosome 6: 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

External Data

Dasty 3

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