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Protein

Ribosome biogenesis protein WDR12

Gene

WDR12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 - 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

Keywordsi

Biological processRibosome biogenesis, rRNA processing

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000138442.9
HGNCiHGNC:14098 WDR12
MIMi616620 gene
neXtProtiNX_Q9GZL7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi76S → L: Reduces interaction with MDN1. 1 Publication1
Mutagenesisi78E → A: Abolishes interaction with MDN1. 1 Publication1

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). Interacts (via UBL domain) with MDN1 (via VWFA/MIDAS domain) (PubMed:26601951).UniRule annotation5 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi120877, 70 interactors
CORUMiQ9GZL7
IntActiQ9GZL7, 5 interactors
STRINGi9606.ENSP00000261015

Structurei

3D structure databases

ProteinModelPortaliQ9GZL7
SMRiQ9GZL7
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
Regioni4 – 87Ubiquitin-like (UBL) domainUniRule annotationAdd BLAST84
Regioni98 – 423Sufficient for nucleolar localizationAdd BLAST326

Sequence similaritiesi

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

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di2.130.10.10, 1 hit
HAMAPiMF_03029 WDR12, 1 hit
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR012972 NLE
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
IPR028599 WDR12/Ytm1
PfamiView protein in Pfam
PF08154 NLE, 1 hit
PF00400 WD40, 5 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 5 hits
PS50294 WD_REPEATS_REGION, 1 hit

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 → V1 PublicationCorresponds to variant dbSNP:rs35212307Ensembl.1
Natural variantiVAR_01286489Y → C. Corresponds to variant dbSNP:rs751438871Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiWDR12_HUMAN
AccessioniPrimary (citable) accession number: Q9GZL7
Secondary accession number(s): B3KPA9
, Q96HU0, Q9NV80, Q9NYI8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: March 27, 2002
Last modified: May 23, 2018
This is version 160 of the entry and version 2 of the sequence. See 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

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