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Protein

Ribosome biogenesis protein WDR12

Gene

WDR12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.UniRule annotation2 Publications

GO - Molecular functioni

GO - Biological processi

  • cell proliferation Source: UniProtKB
  • maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: UniProtKB
  • maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: UniProtKB
  • Notch signaling pathway Source: Ensembl
  • ribosomal large subunit biogenesis Source: UniProtKB
  • rRNA processing Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Ribosome biogenesis, rRNA processing

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138442-MONOMER.
ReactomeiR-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:14098. WDR12.

Subcellular locationi

GO - Cellular componenti

  • nucleolus Source: UniProtKB
  • nucleoplasm Source: UniProtKB
  • PeBoW complex Source: UniProtKB
  • preribosome, large subunit precursor Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi55759.
OpenTargetsiENSG00000138442.
PharmGKBiPA37841.

Polymorphism and mutation databases

BioMutaiWDR12.
DMDMi20140802.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000513582 – 423Ribosome biogenesis protein WDR12Add BLAST422

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Cross-linki239Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Modified residuei415PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9GZL7.
MaxQBiQ9GZL7.
PaxDbiQ9GZL7.
PeptideAtlasiQ9GZL7.
PRIDEiQ9GZL7.

2D gel databases

SWISS-2DPAGEQ9GZL7.

PTM databases

iPTMnetiQ9GZL7.
PhosphoSitePlusiQ9GZL7.
SwissPalmiQ9GZL7.

Expressioni

Inductioni

By MYC.1 Publication

Gene expression databases

BgeeiENSG00000138442.
CleanExiHS_WDR12.
ExpressionAtlasiQ9GZL7. baseline and differential.
GenevisibleiQ9GZL7. HS.

Organism-specific databases

HPAiHPA036389.

Interactioni

Subunit structurei

Component of the PeBoW complex, composed of BOP1, PES1 and WDR12 (ECO:0000269|PubMed:16043514, ECO:0000269|PubMed:16738141, PubMed:17189298, ECO:0000269|PubMed:17353269). The complex is held together by BOP1, which interacts with PES1 via its N-terminal domain and with WDR12 via a high-affinity interaction between the seven-bladed beta-propeller domains of the 2 proteins. The PeBoW complex associates with the 66S pre-ribosome (By similarity).UniRule annotation4 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi120877. 66 interactors.
IntActiQ9GZL7. 4 interactors.
MINTiMINT-3065035.
STRINGi9606.ENSP00000261015.

Structurei

3D structure databases

ProteinModelPortaliQ9GZL7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati99 – 137WD 1Add BLAST39
Repeati138 – 180WD 2Add BLAST43
Repeati187 – 226WD 3Add BLAST40
Repeati255 – 293WD 4Add BLAST39
Repeati295 – 334WD 5Add BLAST40
Repeati340 – 380WD 6Add BLAST41
Repeati384 – 422WD 7Add BLAST39

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni98 – 423Sufficient for nucleolar localizationAdd BLAST326

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

eggNOGiKOG0313. Eukaryota.
ENOG410XPW5. LUCA.
GeneTreeiENSGT00780000121967.
HOGENOMiHOG000264464.
HOVERGENiHBG054155.
InParanoidiQ9GZL7.
KOiK14863.
OMAiGSLDNMV.
OrthoDBiEOG091G096W.
PhylomeDBiQ9GZL7.
TreeFamiTF313023.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
HAMAPiMF_03029. WDR12. 1 hit.
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. 5 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

        10         20         30         40         50
MAQLQTRFYT DNKKYAVDDV PFSIPAASEI ADLSNIINKL LKDKNEFHKH
60 70 80 90 100
VEFDFLIKGQ FLRMPLDKHM EMENISSEEV VEIEYVEKYT APQPEQCMFH
110 120 130 140 150
DDWISSIKGA EEWILTGSYD KTSRIWSLEG KSIMTIVGHT DVVKDVAWVK
160 170 180 190 200
KDSLSCLLLS ASMDQTILLW EWNVERNKVK ALHCCRGHAG SVDSIAVDGS
210 220 230 240 250
GTKFCSGSWD KMLKIWSTVP TDEEDEMEES TNRPRKKQKT EQLGLTRTPI
260 270 280 290 300
VTLSGHMEAV SSVLWSDAEE ICSASWDHTI RVWDVESGSL KSTLTGNKVF
310 320 330 340 350
NCISYSPLCK RLASGSTDRH IRLWDPRTKD GSLVSLSLTS HTGWVTSVKW
360 370 380 390 400
SPTHEQQLIS GSLDNIVKLW DTRSCKAPLY DLAAHEDKVL SVDWTDTGLL
410 420
LSGGADNKLY SYRYSPTTSH VGA
Length:423
Mass (Da):47,708
Last modified:March 27, 2002 - v2
Checksum:i6D088C640AC981D8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti333L → M in AAF60355 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01286372M → V.1
Natural variantiVAR_05488875I → V.1 PublicationCorresponds to variant rs35212307dbSNPEnsembl.1
Natural variantiVAR_01286489Y → C.Corresponds to variant rs751438871dbSNPEnsembl.1
Natural variantiVAR_012865286E → G.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9GZL7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120877. 66 interactors.
IntActiQ9GZL7. 4 interactors.
MINTiMINT-3065035.
STRINGi9606.ENSP00000261015.

PTM databases

iPTMnetiQ9GZL7.
PhosphoSitePlusiQ9GZL7.
SwissPalmiQ9GZL7.

Polymorphism and mutation databases

BioMutaiWDR12.
DMDMi20140802.

2D gel databases

SWISS-2DPAGEQ9GZL7.

Proteomic databases

EPDiQ9GZL7.
MaxQBiQ9GZL7.
PaxDbiQ9GZL7.
PeptideAtlasiQ9GZL7.
PRIDEiQ9GZL7.

Protocols and materials databases

DNASUi55759.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261015; ENSP00000261015; ENSG00000138442.
GeneIDi55759.
KEGGihsa:55759.
UCSCiuc002uzl.4. human.

Organism-specific databases

CTDi55759.
DisGeNETi55759.
GeneCardsiWDR12.
HGNCiHGNC:14098. WDR12.
HPAiHPA036389.
MIMi616620. gene.
neXtProtiNX_Q9GZL7.
OpenTargetsiENSG00000138442.
PharmGKBiPA37841.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0313. Eukaryota.
ENOG410XPW5. LUCA.
GeneTreeiENSGT00780000121967.
HOGENOMiHOG000264464.
HOVERGENiHBG054155.
InParanoidiQ9GZL7.
KOiK14863.
OMAiGSLDNMV.
OrthoDBiEOG091G096W.
PhylomeDBiQ9GZL7.
TreeFamiTF313023.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138442-MONOMER.
ReactomeiR-HSA-6791226. Major pathway of rRNA processing in the nucleolus and cytosol.
SignaLinkiQ9GZL7.

Miscellaneous databases

ChiTaRSiWDR12. human.
GeneWikiiWDR12.
GenomeRNAii55759.
PROiQ9GZL7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138442.
CleanExiHS_WDR12.
ExpressionAtlasiQ9GZL7. baseline and differential.
GenevisibleiQ9GZL7. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
HAMAPiMF_03029. WDR12. 1 hit.
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. 5 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]
ProtoNetiSearch...

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: November 2, 2016
This is version 149 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.