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Q9UJJ7

- RUSD1_HUMAN

UniProt

Q9UJJ7 - RUSD1_HUMAN

Protein

RNA pseudouridylate synthase domain-containing protein 1

Gene

RPUSD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei67 – 671By similarity

    GO - Molecular functioni

    1. pseudouridine synthase activity Source: InterPro
    2. RNA binding Source: InterPro

    GO - Biological processi

    1. pseudouridine synthesis Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    RNA pseudouridylate synthase domain-containing protein 1
    Alternative name(s):
    Ribosomal large subunit pseudouridine synthase C-like protein
    Gene namesi
    Name:RPUSD1
    Synonyms:C16orf40, RLUCL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:14173. RPUSD1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25556.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 312312RNA pseudouridylate synthase domain-containing protein 1PRO_0000300816Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9UJJ7.
    PRIDEiQ9UJJ7.

    PTM databases

    PhosphoSiteiQ9UJJ7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UJJ7.
    BgeeiQ9UJJ7.
    CleanExiHS_RPUSD1.
    GenevestigatoriQ9UJJ7.

    Organism-specific databases

    HPAiHPA041144.
    HPA041938.

    Interactioni

    Protein-protein interaction databases

    BioGridi125221. 3 interactions.
    IntActiQ9UJJ7. 1 interaction.
    STRINGi9606.ENSP00000007264.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UJJ7.
    SMRiQ9UJJ7. Positions 9-227.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi258 – 29033Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the pseudouridine synthase RluA family.Curated

    Phylogenomic databases

    eggNOGiCOG0564.
    HOGENOMiHOG000047212.
    HOVERGENiHBG096261.
    InParanoidiQ9UJJ7.
    OMAiEGKTHMM.
    OrthoDBiEOG74FF19.
    PhylomeDBiQ9UJJ7.
    TreeFamiTF324755.

    Family and domain databases

    InterProiIPR020103. PsdUridine_synth_cat_dom.
    IPR006145. PsdUridine_synth_RsuA/RluD.
    [Graphical view]
    PfamiPF00849. PseudoU_synth_2. 1 hit.
    [Graphical view]
    SUPFAMiSSF55120. SSF55120. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9UJJ7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEPGSVENLS IVYRSRDFLV VNKHWDVRID SKAWRETLTL QKQLRYRFPE    50
    LADPDTCYGF RFCHQLDFST SGALCVALNK AAAGSAYRCF KERRVTKAYL 100
    ALLRGHIQES RVTISHAIGR NSTEGRAHTM CIEGSQGCEN PKPSLTDLVV 150
    LEHGLYAGDP VSKVLLKPLT GRTHQLRVHC SALGHPVVGD LTYGEVSGRE 200
    DRPFRMMLHA FYLRIPTDTE CVEVCTPDPF LPSLDACWSP HTLLQSLDQL 250
    VQALRATPDP DPEDRGPRPG SPSALLPGPG RPPPPPTKPP ETEAQRGPCL 300
    QWLSEWTLEP DS 312
    Length:312
    Mass (Da):34,756
    Last modified:May 1, 2000 - v1
    Checksum:i0D4A31752A0D6AED
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti124 – 1241E → Q.
    Corresponds to variant rs2272898 [ dbSNP | Ensembl ].
    VAR_034883
    Natural varianti247 – 2471L → P.
    Corresponds to variant rs3751672 [ dbSNP | Ensembl ].
    VAR_034884

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AE006465 Genomic DNA. Translation: AAK61255.1.
    AL031033 Genomic DNA. Translation: CAB53055.1.
    CH471112 Genomic DNA. Translation: EAW85712.1.
    CH471112 Genomic DNA. Translation: EAW85713.1.
    CH471112 Genomic DNA. Translation: EAW85715.1.
    BC011783 mRNA. Translation: AAH11783.1.
    CCDSiCCDS10426.1.
    RefSeqiNP_478072.1. NM_058192.2.
    UniGeneiHs.101742.

    Genome annotation databases

    EnsembliENST00000007264; ENSP00000007264; ENSG00000007376.
    ENST00000561734; ENSP00000455026; ENSG00000007376.
    GeneIDi113000.
    KEGGihsa:113000.
    UCSCiuc002cka.3. human.

    Polymorphism databases

    DMDMi74753357.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AE006465 Genomic DNA. Translation: AAK61255.1 .
    AL031033 Genomic DNA. Translation: CAB53055.1 .
    CH471112 Genomic DNA. Translation: EAW85712.1 .
    CH471112 Genomic DNA. Translation: EAW85713.1 .
    CH471112 Genomic DNA. Translation: EAW85715.1 .
    BC011783 mRNA. Translation: AAH11783.1 .
    CCDSi CCDS10426.1.
    RefSeqi NP_478072.1. NM_058192.2.
    UniGenei Hs.101742.

    3D structure databases

    ProteinModelPortali Q9UJJ7.
    SMRi Q9UJJ7. Positions 9-227.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125221. 3 interactions.
    IntActi Q9UJJ7. 1 interaction.
    STRINGi 9606.ENSP00000007264.

    PTM databases

    PhosphoSitei Q9UJJ7.

    Polymorphism databases

    DMDMi 74753357.

    Proteomic databases

    MaxQBi Q9UJJ7.
    PRIDEi Q9UJJ7.

    Protocols and materials databases

    DNASUi 113000.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000007264 ; ENSP00000007264 ; ENSG00000007376 .
    ENST00000561734 ; ENSP00000455026 ; ENSG00000007376 .
    GeneIDi 113000.
    KEGGi hsa:113000.
    UCSCi uc002cka.3. human.

    Organism-specific databases

    CTDi 113000.
    GeneCardsi GC16M000834.
    HGNCi HGNC:14173. RPUSD1.
    HPAi HPA041144.
    HPA041938.
    neXtProti NX_Q9UJJ7.
    PharmGKBi PA25556.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0564.
    HOGENOMi HOG000047212.
    HOVERGENi HBG096261.
    InParanoidi Q9UJJ7.
    OMAi EGKTHMM.
    OrthoDBi EOG74FF19.
    PhylomeDBi Q9UJJ7.
    TreeFami TF324755.

    Miscellaneous databases

    GenomeRNAii 113000.
    NextBioi 78731.
    PROi Q9UJJ7.

    Gene expression databases

    ArrayExpressi Q9UJJ7.
    Bgeei Q9UJJ7.
    CleanExi HS_RPUSD1.
    Genevestigatori Q9UJJ7.

    Family and domain databases

    InterProi IPR020103. PsdUridine_synth_cat_dom.
    IPR006145. PsdUridine_synth_RsuA/RluD.
    [Graphical view ]
    Pfami PF00849. PseudoU_synth_2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55120. SSF55120. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
      Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
      Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [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].
      Tissue: Lung.
    5. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiRUSD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UJJ7
    Secondary accession number(s): D3DU66
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: May 1, 2000
    Last modified: October 1, 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. Human chromosome 16
      Human chromosome 16: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3