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Q9GZL7

- WDR12_HUMAN

UniProt

Q9GZL7 - WDR12_HUMAN

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Protein
Ribosome biogenesis protein WDR12
Gene
WDR12
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 Publications

GO - Molecular functioni

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

GO - Biological processi

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

Keywords - Biological processi

Ribosome biogenesis, rRNA processing

Enzyme and pathway databases

SignaLinkiQ9GZL7.

Names & Taxonomyi

Protein namesi
Recommended name:
Ribosome biogenesis protein WDR12
Alternative name(s):
WD repeat-containing protein 12
Gene namesi
Name:WDR12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:14098. WDR12.

Subcellular locationi

Nucleusnucleolus. Nucleusnucleoplasm 2 Publications

GO - Cellular componenti

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

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 WDR12UniRule annotation
PRO_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 Publications

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.

Family & Domainsi

Domains and Repeats

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

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni98 – 423326Sufficient for nucleolar localizationUniRule annotation
Add
BLAST

Sequence similaritiesi

Contains 7 WD repeats.

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

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 conflict

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

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 126 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

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