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Q5T160

- SYRM_HUMAN

UniProt

Q5T160 - SYRM_HUMAN

Protein

Probable arginine--tRNA ligase, mitochondrial

Gene

RARS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      Previous versions | rss
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    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 – 1616MitochondrionSequence AnalysisAdd
    BLAST
    Chaini17 – 578562Probable arginine--tRNA ligase, mitochondrialPRO_0000250731Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei568 – 5681N6-acetyllysineBy 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.
    ModBaseiSearch...
    MobiDBiSearch...

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti48 – 481S → P in BAB14608. (PubMed:14702039)Curated
    Sequence conflicti149 – 1491I → V in BAB14608. (PubMed:14702039)Curated

    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 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

    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: October 1, 2014
    This is version 98 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