Q9GZL7 (WDR12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ribosome biogenesis protein WDR12

Alternative name(s):
WD repeat-containing protein 12

Gene names

Name:

WDR12

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	423 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. Ref.5 Ref.7
Subunit structure	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. Ref.5 Ref.6 Ref.7 Ref.8
Subcellular location	Nucleus › nucleolus. Nucleus › nucleoplasm Ref.4 Ref.5.
Induction	By MYC. Ref.5
Sequence similarities	Belongs to the WD repeat WDR12/YTM1 family. Contains 7 WD repeats.

Ontologies

Keywords
Biological process	Ribosome biogenesis rRNA processing
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Notch signaling pathway Inferred from electronic annotation. Source: Compara cell proliferation Inferred from mutant phenotype Ref.5. Source: UniProtKB maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Inferred from mutant phenotype Ref.5. Source: UniProtKB maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Inferred from mutant phenotype Ref.5Ref.7. Source: UniProtKB
Cellular_component	PeBoW complex Inferred from direct assay Ref.5Ref.7. Source: UniProtKB nucleoplasm Inferred from direct assay Ref.5. Source: UniProtKB preribosome, large subunit precursor Inferred from direct assay Ref.7. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BOP1	Q14137	3	EBI-2490660,EBI-1050828

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 423	423	Ribosome biogenesis protein WDR12 HAMAP-Rule MF_03029		PRO_0000051358
Regions
	Repeat	99 – 137	39	WD 1 HAMAP-Rule MF_03029
	Repeat	138 – 180	43	WD 2 HAMAP-Rule MF_03029
	Repeat	187 – 226	40	WD 3 HAMAP-Rule MF_03029
	Repeat	255 – 293	39	WD 4 HAMAP-Rule MF_03029
	Repeat	295 – 334	40	WD 5 HAMAP-Rule MF_03029
	Repeat	340 – 380	41	WD 6 HAMAP-Rule MF_03029
	Repeat	384 – 422	39	WD 7 HAMAP-Rule MF_03029
	Region	98 – 423	326	Sufficient for nucleolar localization HAMAP-Rule MF_03029
Natural variations
	Natural variant	72	1	M → V.		VAR_012863
	Natural variant	75	1	I → V. Ref.2 Corresponds to variant rs35212307 [ dbSNP | Ensembl ].		VAR_054888
	Natural variant	89	1	Y → C.		VAR_012864
	Natural variant	286	1	E → G.		VAR_012865
Experimental info
	Sequence conflict	333	1	L → M in AAF60355. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9GZL7 [UniParc]. Last modified March 27, 2002. Version 2. Checksum: 6D088C640AC981D8	FASTA	423	47,708
	10 20 30 40 50 60 MAQLQTRFYT DNKKYAVDDV PFSIPAASEI ADLSNIINKL LKDKNEFHKH VEFDFLIKGQ 70 80 90 100 110 120 FLRMPLDKHM EMENISSEEV VEIEYVEKYT APQPEQCMFH DDWISSIKGA EEWILTGSYD 130 140 150 160 170 180 KTSRIWSLEG KSIMTIVGHT DVVKDVAWVK KDSLSCLLLS ASMDQTILLW EWNVERNKVK 190 200 210 220 230 240 ALHCCRGHAG SVDSIAVDGS GTKFCSGSWD KMLKIWSTVP TDEEDEMEES TNRPRKKQKT 250 260 270 280 290 300 EQLGLTRTPI VTLSGHMEAV SSVLWSDAEE ICSASWDHTI RVWDVESGSL KSTLTGNKVF 310 320 330 340 350 360 NCISYSPLCK RLASGSTDRH IRLWDPRTKD GSLVSLSLTS HTGWVTSVKW SPTHEQQLIS 370 380 390 400 410 420 GSLDNIVKLW DTRSCKAPLY DLAAHEDKVL SVDWTDTGLL LSGGADNKLY SYRYSPTTSH VGA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Functional proteomic analysis of human nucleolus." Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., Greco A., Hochstrasser D.F., Diaz J.-J. Mol. Biol. Cell 13:4100-4109(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. 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]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00304232.
RefSeq	NP_060726.3. NM_018256.3.
UniGene	Hs.73291.
3D structure databases
ProteinModelPortal	Q9GZL7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9GZL7. 2 interactions.
STRING	9606.ENSP00000261015.
PTM databases
PhosphoSite	Q9GZL7.
Polymorphism databases
DMDM	20140802.
2D gel databases
SWISS-2DPAGE	Q9GZL7.
Proteomic databases
PaxDb	Q9GZL7.
PeptideAtlas	Q9GZL7.
PRIDE	Q9GZL7.
Protocols and materials databases
DNASU	55759.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000261015; ENSP00000261015; ENSG00000138442.
GeneID	55759.
KEGG	hsa:55759.
UCSC	uc002uzl.3. human.
Organism-specific databases
CTD	55759.
GeneCards	GC02M203709.
HGNC	HGNC:14098. WDR12.
HPA	HPA036389.
neXtProt	NX_Q9GZL7.
PharmGKB	PA37841.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000264464.
HOVERGEN	HBG054155.
InParanoid	Q9GZL7.
KO	K14863.
OMA	LQTRFFT.
OrthoDB	EOG4V6ZGM.
PhylomeDB	Q9GZL7.
Gene expression databases
ArrayExpress	Q9GZL7.
Bgee	Q9GZL7.
CleanEx	HS_WDR12.
Genevestigator	Q9GZL7.
GermOnline	ENSG00000138442. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 1 hit.
HAMAP	MF_03029. WDR12.
InterPro	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. [Graphical view]
Pfam	PF08154. NLE. 1 hit. PF00400. WD40. 7 hits. [Graphical view]
PRINTS	PR00320. GPROTEINBRPT.
SMART	SM00320. WD40. 7 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. 2 hits. PS50082. WD_REPEATS_2. 5 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	55759.
NextBio	60775.

Entry information

Entry name

WDR12_HUMAN

Accession

Primary (citable) accession number: Q9GZL7
Secondary accession number(s): B3KPA9 , Q96HU0, Q9NV80, Q9NYI8

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 27, 2002
Last sequence update:	March 27, 2002
Last modified:	May 1, 2013
This is version 114 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.