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Q9GZL7

- WDR12_HUMAN

UniProt

Q9GZL7 - WDR12_HUMAN

Protein

Ribosome biogenesis protein WDR12

Gene

WDR12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 2 (27 Mar 2002)
      Previous versions | rss
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    Functioni

    Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.2 PublicationsUniRule annotation

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. ribonucleoprotein complex binding Source: UniProtKB-HAMAP

    GO - Biological processi

    1. cell proliferation Source: UniProtKB
    2. maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: UniProtKB
    3. maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: UniProtKB
    4. Notch signaling pathway Source: Ensembl
    5. ribosomal large subunit biogenesis Source: UniProtKB

    Keywords - Biological processi

    Ribosome biogenesis, rRNA processing

    Enzyme and pathway databases

    SignaLinkiQ9GZL7.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ribosome biogenesis protein WDR12UniRule annotation
    Alternative name(s):
    WD repeat-containing protein 12UniRule annotation
    Gene namesi
    Name:WDR12UniRule annotation
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:14098. WDR12.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleolus Source: UniProtKB
    2. nucleoplasm Source: UniProtKB
    3. PeBoW complex Source: UniProtKB
    4. preribosome, large subunit precursor Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37841.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 423422Ribosome biogenesis protein WDR12PRO_0000051358Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9GZL7.
    PaxDbiQ9GZL7.
    PeptideAtlasiQ9GZL7.
    PRIDEiQ9GZL7.

    2D gel databases

    SWISS-2DPAGEQ9GZL7.

    PTM databases

    PhosphoSiteiQ9GZL7.

    Expressioni

    Inductioni

    By MYC.1 Publication

    Gene expression databases

    ArrayExpressiQ9GZL7.
    BgeeiQ9GZL7.
    CleanExiHS_WDR12.
    GenevestigatoriQ9GZL7.

    Organism-specific databases

    HPAiHPA036389.

    Interactioni

    Subunit structurei

    Component of the PeBoW complex, composed of BOP1, PES1 and WDR12. Within the PeBoW complex BOP1 interacts directly with PES1 and WDR12. The PeBoW complex also associates with the 66S pre-ribosome.4 PublicationsUniRule annotation

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BOP1Q141373EBI-2490660,EBI-1050828

    Protein-protein interaction databases

    BioGridi120877. 36 interactions.
    IntActiQ9GZL7. 2 interactions.
    MINTiMINT-3065035.
    STRINGi9606.ENSP00000261015.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9GZL7.
    SMRiQ9GZL7. Positions 114-408.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati99 – 13739WD 1Add
    BLAST
    Repeati138 – 18043WD 2Add
    BLAST
    Repeati187 – 22640WD 3Add
    BLAST
    Repeati255 – 29339WD 4Add
    BLAST
    Repeati295 – 33440WD 5Add
    BLAST
    Repeati340 – 38041WD 6Add
    BLAST
    Repeati384 – 42239WD 7Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni98 – 423326Sufficient for nucleolar localizationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the WD repeat WDR12/YTM1 family.UniRule annotation
    Contains 7 WD repeats.UniRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000264464.
    HOVERGENiHBG054155.
    InParanoidiQ9GZL7.
    KOiK14863.
    OMAiATEEWIL.
    OrthoDBiEOG7Q2N5C.
    PhylomeDBiQ9GZL7.
    TreeFamiTF313023.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    HAMAPiMF_03029. WDR12.
    InterProiIPR020472. G-protein_beta_WD-40_rep.
    IPR012972. NLE.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    IPR028599. WDR12/Ytm1.
    [Graphical view]
    PfamiPF08154. NLE. 1 hit.
    PF00400. WD40. 7 hits.
    [Graphical view]
    PRINTSiPR00320. GPROTEINBRPT.
    SMARTiSM00320. WD40. 7 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    PROSITEiPS00678. WD_REPEATS_1. 2 hits.
    PS50082. WD_REPEATS_2. 5 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9GZL7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAQLQTRFYT DNKKYAVDDV PFSIPAASEI ADLSNIINKL LKDKNEFHKH    50
    VEFDFLIKGQ FLRMPLDKHM EMENISSEEV VEIEYVEKYT APQPEQCMFH 100
    DDWISSIKGA EEWILTGSYD KTSRIWSLEG KSIMTIVGHT DVVKDVAWVK 150
    KDSLSCLLLS ASMDQTILLW EWNVERNKVK ALHCCRGHAG SVDSIAVDGS 200
    GTKFCSGSWD KMLKIWSTVP TDEEDEMEES TNRPRKKQKT EQLGLTRTPI 250
    VTLSGHMEAV SSVLWSDAEE ICSASWDHTI RVWDVESGSL KSTLTGNKVF 300
    NCISYSPLCK RLASGSTDRH IRLWDPRTKD GSLVSLSLTS HTGWVTSVKW 350
    SPTHEQQLIS GSLDNIVKLW DTRSCKAPLY DLAAHEDKVL SVDWTDTGLL 400
    LSGGADNKLY SYRYSPTTSH VGA 423
    Length:423
    Mass (Da):47,708
    Last modified:March 27, 2002 - v2
    Checksum:i6D088C640AC981D8
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti333 – 3331L → M in AAF60355. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721M → V.
    VAR_012863
    Natural varianti75 – 751I → V.1 Publication
    Corresponds to variant rs35212307 [ dbSNP | Ensembl ].
    VAR_054888
    Natural varianti89 – 891Y → C.
    VAR_012864
    Natural varianti286 – 2861E → G.
    VAR_012865

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF242546 mRNA. Translation: AAF60355.1.
    AK001743 mRNA. Translation: BAA91875.1.
    AK022781 mRNA. Translation: BAB14242.1.
    AK022782 mRNA. Translation: BAB14243.1.
    AK056092 mRNA. Translation: BAG51621.1.
    BC008082 mRNA. Translation: AAH08082.1.
    CCDSiCCDS2356.1.
    RefSeqiNP_060726.3. NM_018256.3.
    UniGeneiHs.73291.

    Genome annotation databases

    EnsembliENST00000261015; ENSP00000261015; ENSG00000138442.
    GeneIDi55759.
    KEGGihsa:55759.
    UCSCiuc002uzl.3. human.

    Polymorphism databases

    DMDMi20140802.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF242546 mRNA. Translation: AAF60355.1 .
    AK001743 mRNA. Translation: BAA91875.1 .
    AK022781 mRNA. Translation: BAB14242.1 .
    AK022782 mRNA. Translation: BAB14243.1 .
    AK056092 mRNA. Translation: BAG51621.1 .
    BC008082 mRNA. Translation: AAH08082.1 .
    CCDSi CCDS2356.1.
    RefSeqi NP_060726.3. NM_018256.3.
    UniGenei Hs.73291.

    3D structure databases

    ProteinModelPortali Q9GZL7.
    SMRi Q9GZL7. Positions 114-408.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120877. 36 interactions.
    IntActi Q9GZL7. 2 interactions.
    MINTi MINT-3065035.
    STRINGi 9606.ENSP00000261015.

    PTM databases

    PhosphoSitei Q9GZL7.

    Polymorphism databases

    DMDMi 20140802.

    2D gel databases

    SWISS-2DPAGE Q9GZL7.

    Proteomic databases

    MaxQBi Q9GZL7.
    PaxDbi Q9GZL7.
    PeptideAtlasi Q9GZL7.
    PRIDEi Q9GZL7.

    Protocols and materials databases

    DNASUi 55759.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261015 ; ENSP00000261015 ; ENSG00000138442 .
    GeneIDi 55759.
    KEGGi hsa:55759.
    UCSCi uc002uzl.3. human.

    Organism-specific databases

    CTDi 55759.
    GeneCardsi GC02M203709.
    HGNCi HGNC:14098. WDR12.
    HPAi HPA036389.
    neXtProti NX_Q9GZL7.
    PharmGKBi PA37841.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000264464.
    HOVERGENi HBG054155.
    InParanoidi Q9GZL7.
    KOi K14863.
    OMAi ATEEWIL.
    OrthoDBi EOG7Q2N5C.
    PhylomeDBi Q9GZL7.
    TreeFami TF313023.

    Enzyme and pathway databases

    SignaLinki Q9GZL7.

    Miscellaneous databases

    GeneWikii WDR12.
    GenomeRNAii 55759.
    NextBioi 60775.
    PROi Q9GZL7.

    Gene expression databases

    ArrayExpressi Q9GZL7.
    Bgeei Q9GZL7.
    CleanExi HS_WDR12.
    Genevestigatori Q9GZL7.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    HAMAPi MF_03029. WDR12.
    InterProi IPR020472. G-protein_beta_WD-40_rep.
    IPR012972. NLE.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    IPR028599. WDR12/Ytm1.
    [Graphical view ]
    Pfami PF08154. NLE. 1 hit.
    PF00400. WD40. 7 hits.
    [Graphical view ]
    PRINTSi PR00320. GPROTEINBRPT.
    SMARTi SM00320. WD40. 7 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    PROSITEi PS00678. WD_REPEATS_1. 2 hits.
    PS50082. WD_REPEATS_2. 5 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human homolog of Saccharomyces cervisiae YTM1."
      Matsumoto S.
      Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    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-75.
    3. "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: Skin.
    4. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    5. "Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation."
      Hoelzel M., Rohrmoser M., Schlee M., Grimm T., Harasim T., Malamoussi A., Gruber-Eber A., Kremmer E., Hiddemann W., Bornkamm G.W., Eick D.
      J. Cell Biol. 170:367-378(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH BOP1 AND PES1, SUBCELLULAR LOCATION, INDUCTION.
    6. "Dominant-negative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex."
      Grimm T., Hoelzel M., Rohrmoser M., Harasim T., Malamoussi A., Gruber-Eber A., Kremmer E., Eick D.
      Nucleic Acids Res. 34:3030-3043(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PES1 AND WDR12.
    7. "Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit."
      Rohrmoser M., Hoelzel M., Grimm T., Malamoussi A., Harasim T., Orban M., Pfisterer I., Gruber-Eber A., Kremmer E., Eick D.
      Mol. Cell. Biol. 27:3682-3694(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH BOP1 AND PES1.
    8. "The BRCT domain of mammalian Pes1 is crucial for nucleolar localization and rRNA processing."
      Hoelzel M., Grimm T., Rohrmoser M., Malamoussi A., Harasim T., Gruber-Eber A., Kremmer E., Eick D.
      Nucleic Acids Res. 35:789-800(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BOP1 AND PES1.
    9. "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: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiWDR12_HUMAN
    AccessioniPrimary (citable) accession number: Q9GZL7
    Secondary accession number(s): B3KPA9
    , Q96HU0, Q9NV80, Q9NYI8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 27, 2002
    Last sequence update: March 27, 2002
    Last modified: October 1, 2014
    This is version 127 of the entry and version 2 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 2
      Human chromosome 2: 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