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Q9BSV6

- SEN34_HUMAN

UniProt

Q9BSV6 - SEN34_HUMAN

Protein

tRNA-splicing endonuclease subunit Sen34

Gene

TSEN34

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. It probably carries the active site for 3'-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events.1 Publication

    Catalytic activityi

    PretRNA = a 3'-half-tRNA molecule with a 5'-OH end + a 5'-half-tRNA molecule with a 2',3'-cyclic phosphate end + an intron with a 2',3'-cyclic phosphate and a 5'-hydroxyl terminus.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei247 – 2471By similarity
    Active sitei255 – 2551By similarity
    Active sitei286 – 2861By similarity

    GO - Molecular functioni

    1. lyase activity Source: UniProtKB-KW
    2. nucleic acid binding Source: InterPro
    3. tRNA-intron endonuclease activity Source: InterPro

    GO - Biological processi

    1. mRNA processing Source: UniProtKB-KW
    2. tRNA-type intron splice site recognition and cleavage Source: InterPro

    Keywords - Molecular functioni

    Lyase

    Keywords - Biological processi

    mRNA processing, tRNA processing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    tRNA-splicing endonuclease subunit Sen34 (EC:4.6.1.16)
    Alternative name(s):
    Leukocyte receptor cluster member 5
    tRNA-intron endonuclease Sen34
    Short name:
    HsSen34
    Gene namesi
    Name:TSEN34
    Synonyms:LENG5, SEN34
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:15506. TSEN34.

    Subcellular locationi

    Nucleus 1 Publication. Nucleusnucleolus 1 Publication
    Note: May be transiently localized in the nucleolus.

    GO - Cellular componenti

    1. nucleolus Source: UniProtKB-SubCell
    2. tRNA-intron endonuclease complex Source: InterPro

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Pontocerebellar hypoplasia 2C (PCH2C) [MIM:612390]: A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti58 – 581R → W in PCH2C. 1 Publication
    VAR_054811

    Keywords - Diseasei

    Disease mutation, Pontocerebellar hypoplasia

    Organism-specific databases

    MIMi612390. phenotype.
    Orphaneti2524. Pontocerebellar hypoplasia type 2.
    PharmGKBiPA134871088.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 310310tRNA-splicing endonuclease subunit Sen34PRO_0000109463Add
    BLAST

    Proteomic databases

    MaxQBiQ9BSV6.
    PaxDbiQ9BSV6.
    PeptideAtlasiQ9BSV6.
    PRIDEiQ9BSV6.

    PTM databases

    PhosphoSiteiQ9BSV6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BSV6.
    BgeeiQ9BSV6.
    CleanExiHS_TSEN34.
    GenevestigatoriQ9BSV6.

    Organism-specific databases

    HPAiHPA041111.

    Interactioni

    Subunit structurei

    tRNA splicing endonuclease is a heterotetramer composed of SEN2, SEN15, SEN34/LENG5 and SEN54. tRNA splicing endonuclease complex also contains proteins of the pre-mRNA 3'-end processing machinery such as CLP1, CPSF1, CPSF4 and CSTF2.1 Publication

    Protein-protein interaction databases

    BioGridi122505. 14 interactions.
    STRINGi9606.ENSP00000305524.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BSV6.
    SMRiQ9BSV6. Positions 213-306.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the tRNA-intron endonuclease family.Curated

    Phylogenomic databases

    eggNOGiCOG1676.
    HOGENOMiHOG000232197.
    HOVERGENiHBG054846.
    InParanoidiQ9BSV6.
    KOiK15323.
    PhylomeDBiQ9BSV6.
    TreeFamiTF314631.

    Family and domain databases

    Gene3Di3.40.1350.10. 1 hit.
    InterProiIPR011856. tRNA_endonuc-like_dom.
    IPR006677. tRNA_intron_Endonuc_cat-like.
    IPR006676. tRNA_splic.
    IPR016690. tRNA_splic_SEN34.
    [Graphical view]
    PfamiPF01974. tRNA_int_endo. 1 hit.
    [Graphical view]
    PIRSFiPIRSF017250. tRNA_splic_SEN34. 1 hit.
    SUPFAMiSSF53032. SSF53032. 1 hit.
    TIGRFAMsiTIGR00324. endA. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9BSV6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLVVEVANGR SLVWGAEAVQ ALRERLGVGG RTVGALPRGP RQNSRLGLPL    50
    LLMPEEARLL AEIGAVTLVS APRPDSRHHS LALTSFKRQQ EESFQEQSAL 100
    AAEARETRRQ ELLEKITEGQ AAKKQKLEQA SGASSSQEAG SSQAAKEDET 150
    SDGQASGEQE EAGPSSSQAG PSNGVAPLPR SALLVQLATA RPRPVKARPL 200
    DWRVQSKDWP HAGRPAHELR YSIYRDLWER GFFLSAAGKF GGDFLVYPGD 250
    PLRFHAHYIA QCWAPEDTIP LQDLVAAGRL GTSVRKTLLL CSPQPDGKVV 300
    YTSLQWASLQ 310
    Length:310
    Mass (Da):33,652
    Last modified:June 1, 2001 - v1
    Checksum:i1C1522D030148EC3
    GO

    Sequence cautioni

    The sequence BAB15284.1 differs from that shown. Reason: Erroneous termination at position 311. Translated as stop.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti58 – 581R → W in PCH2C. 1 Publication
    VAR_054811
    Natural varianti112 – 1121L → V.1 Publication
    Corresponds to variant rs17849378 [ dbSNP | Ensembl ].
    VAR_061149

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK025929 mRNA. Translation: BAB15284.1. Sequence problems.
    CU457734 Genomic DNA. Translation: CAP19124.1.
    CU151838 Genomic DNA. Translation: CAQ09596.1.
    CH471135 Genomic DNA. Translation: EAW72203.1.
    BC004530 mRNA. Translation: AAH04530.1.
    BC020805 mRNA. Translation: AAH20805.1.
    CCDSiCCDS42609.1.
    RefSeqiNP_001070914.1. NM_001077446.3.
    NP_001269261.1. NM_001282332.1.
    NP_076980.2. NM_024075.4.
    UniGeneiHs.15580.

    Genome annotation databases

    EnsembliENST00000302937; ENSP00000305524; ENSG00000170892.
    ENST00000396383; ENSP00000379667; ENSG00000170892.
    ENST00000396388; ENSP00000379671; ENSG00000170892.
    GeneIDi79042.
    KEGGihsa:79042.
    UCSCiuc002qdu.3. human.

    Polymorphism databases

    DMDMi50401668.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK025929 mRNA. Translation: BAB15284.1 . Sequence problems.
    CU457734 Genomic DNA. Translation: CAP19124.1 .
    CU151838 Genomic DNA. Translation: CAQ09596.1 .
    CH471135 Genomic DNA. Translation: EAW72203.1 .
    BC004530 mRNA. Translation: AAH04530.1 .
    BC020805 mRNA. Translation: AAH20805.1 .
    CCDSi CCDS42609.1.
    RefSeqi NP_001070914.1. NM_001077446.3.
    NP_001269261.1. NM_001282332.1.
    NP_076980.2. NM_024075.4.
    UniGenei Hs.15580.

    3D structure databases

    ProteinModelPortali Q9BSV6.
    SMRi Q9BSV6. Positions 213-306.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122505. 14 interactions.
    STRINGi 9606.ENSP00000305524.

    PTM databases

    PhosphoSitei Q9BSV6.

    Polymorphism databases

    DMDMi 50401668.

    Proteomic databases

    MaxQBi Q9BSV6.
    PaxDbi Q9BSV6.
    PeptideAtlasi Q9BSV6.
    PRIDEi Q9BSV6.

    Protocols and materials databases

    DNASUi 79042.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000302937 ; ENSP00000305524 ; ENSG00000170892 .
    ENST00000396383 ; ENSP00000379667 ; ENSG00000170892 .
    ENST00000396388 ; ENSP00000379671 ; ENSG00000170892 .
    GeneIDi 79042.
    KEGGi hsa:79042.
    UCSCi uc002qdu.3. human.

    Organism-specific databases

    CTDi 79042.
    GeneCardsi GC19P054863.
    HGNCi HGNC:15506. TSEN34.
    HPAi HPA041111.
    MIMi 608754. gene.
    612390. phenotype.
    neXtProti NX_Q9BSV6.
    Orphaneti 2524. Pontocerebellar hypoplasia type 2.
    PharmGKBi PA134871088.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1676.
    HOGENOMi HOG000232197.
    HOVERGENi HBG054846.
    InParanoidi Q9BSV6.
    KOi K15323.
    PhylomeDBi Q9BSV6.
    TreeFami TF314631.

    Miscellaneous databases

    GeneWikii TSEN34.
    GenomeRNAii 79042.
    NextBioi 67781.
    PROi Q9BSV6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BSV6.
    Bgeei Q9BSV6.
    CleanExi HS_TSEN34.
    Genevestigatori Q9BSV6.

    Family and domain databases

    Gene3Di 3.40.1350.10. 1 hit.
    InterProi IPR011856. tRNA_endonuc-like_dom.
    IPR006677. tRNA_intron_Endonuc_cat-like.
    IPR006676. tRNA_splic.
    IPR016690. tRNA_splic_SEN34.
    [Graphical view ]
    Pfami PF01974. tRNA_int_endo. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF017250. tRNA_splic_SEN34. 1 hit.
    SUPFAMi SSF53032. SSF53032. 1 hit.
    TIGRFAMsi TIGR00324. endA. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation."
      Paushkin S.V., Patel M., Furia B.S., Peltz S.W., Trotta C.R.
      Cell 117:311-321(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, COMPONENT OF A COMPLEX WITH SEN2; SEN15; SEN54 AND CLP1.
    2. "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-112.
      Tissue: Kidney epithelium.
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Brain and Eye.
    6. "Extensive gene duplications and a large inversion characterize the human leukocyte receptor cluster."
      Wende H., Volz A., Ziegler A.
      Immunogenetics 51:703-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE LRC.
    7. Erratum
      Wende H., Volz A., Ziegler A.
      Immunogenetics 52:3-4(2001)
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: VARIANT PCH2C TRP-58.

    Entry informationi

    Entry nameiSEN34_HUMAN
    AccessioniPrimary (citable) accession number: Q9BSV6
    Secondary accession number(s): A6NNB1
    , B0V3J1, Q9BVT1, Q9H6H5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 108 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

    Miscellaneous

    Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3