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Q9BZH6 (WDR11_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
WD repeat-containing protein 11
Alternative name(s):
Bromodomain and WD repeat-containing protein 2
WD repeat-containing protein 15
Gene names
Name:WDR11
Synonyms:BRWD2, KIAA1351, WDR15
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1224 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with EMX1 (via the N-terminal and the central portion of the protein. The C-terminus does not.). Ref.8

Subcellular location

Membrane; Single-pass membrane protein Potential. Cytoplasm. Nucleus. Note: Might be shuttling between the nucleus and the cytoplasm. Ref.8

Tissue specificity

Ubiquitous.

Involvement in disease

A chromosomal aberration involving WDR11 is found in a form of glioblastoma. Translocation t(10;19)(q26;q13.3) with ZNF320.

A chromosomal aberration involving WDR11 is found in a form of Kallmann syndrome. Translocation 46,XY,t(10;12)(q26.12;q13.11).

Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Contains 9 WD repeats.

Sequence caution

The sequence BAA92589.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12241224WD repeat-containing protein 11
PRO_0000050889

Regions

Transmembrane1127 – 114721Helical; Potential
Repeat59 – 10850WD 1
Repeat111 – 15444WD 2
Repeat354 – 39340WD 3
Repeat471 – 51040WD 4
Repeat566 – 60540WD 5
Repeat708 – 74538WD 6
Repeat747 – 78741WD 7
Repeat793 – 83139WD 8
Repeat893 – 94048WD 9

Natural variations

Natural variant3951R → W in HH14; does not affect the interaction with EMX1; does not affect the subcellular location of the protein. Ref.8
Corresponds to variant rs201051480 [ dbSNP | Ensembl ].
VAR_069194
Natural variant4351A → T in HH14; abolishes the interaction with EMX1; does not affect the subcellular location of the protein. Ref.8
Corresponds to variant rs318240760 [ dbSNP | Ensembl ].
VAR_069195
Natural variant4481R → Q in HH14; reduces the interaction with EMX1; does not affect the subcellular location of the protein. Ref.8
Corresponds to variant rs144440500 [ dbSNP | Ensembl ].
VAR_069196
Natural variant6901H → Q in HH14; abolishes the interaction with EMX1. Ref.8
Corresponds to variant rs318240761 [ dbSNP | Ensembl ].
VAR_069197
Natural variant9781K → Q. Ref.8
Corresponds to variant rs144531702 [ dbSNP | Ensembl ].
VAR_069198
Natural variant11501F → L in HH14; does not affect the subcellular location of the protein. Ref.8
Corresponds to variant rs139007744 [ dbSNP | Ensembl ].
VAR_069199

Sequences

Sequence LengthMass (Da)Tools
Q9BZH6 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 918221ABEAEFB4ED

FASTA1,224136,685
        10         20         30         40         50         60 
MLPYTVNFKV SARTLTGALN AHNKAAVDWG WQGLIAYGCH SLVVVIDSIT AQTLQVLEKH 

        70         80         90        100        110        120 
KADVVKVKWA RENYHHNIGS PYCLRLASAD VNGKIIVWDV AAGVAQCEIQ EHAKPIQDVQ 

       130        140        150        160        170        180 
WLWNQDASRD LLLAIHPPNY IVLWNADTGT KLWKKSYADN ILSFSFDPFD PSHLTLLTSE 

       190        200        210        220        230        240 
GIVFISDFSP SKPPSGPGKK VYISSPHSSP AHNKLATATG AKKALNKVKI LITQEKPSAE 

       250        260        270        280        290        300 
FITLNDCLQL AYLPSKRNHM LLLYPREILI LDLEVNQTVG VIAIERTGVP FLQVIPCFQR 

       310        320        330        340        350        360 
DGLFCLHENG CITLRVRRSY NNIFTTSNEE PDPDPVQELT YDLRSQCDAI RVTKTVRPFS 

       370        380        390        400        410        420 
MVCCPVNENA AALVVSDGRV MIWELKSAVC NRNSRNSSSG VSPLYSPVSF CGIPVGVLQN 

       430        440        450        460        470        480 
KLPDLSLDNM IGQSAIAGEE HPRGSILREV HLKFLLTGLL SGLPAPQFAI RMCPPLTTKN 

       490        500        510        520        530        540 
IKMYQPLLAV GTSNGSVLVY HLTSGLLHKE LSIHSCEVKG IEWTSLTSFL SFATSTPNNM 

       550        560        570        580        590        600 
GLVRNELQLV DLPTGRSIAF RGERGNDESA IEMIKVSHLK QYLAVVFRDK PLELWDVRTC 

       610        620        630        640        650        660 
TLLREMSKNF PTITALEWSP SHNLKSLRKK QLATREAMAR QTVVSDTELS IVESSVISLL 

       670        680        690        700        710        720 
QEAESKSELS QNISAREHFV FTDIDGQVYH LTVEGNSVKD SARIPPDGSM GSITCIAWKG 

       730        740        750        760        770        780 
DTLVLGDMDG NLNFWDLKGR VSRGIPTHRS WVRKIRFAPG KGNQKLIAMY NDGAEVWDTK 

       790        800        810        820        830        840 
EVQMVSSLRS GRNVTFRILD VDWCTSDKVI LASDDGCIRV LEMSMKSACF RMDEQELTEP 

       850        860        870        880        890        900 
VWCPYLLVPR ASLALKAFLL HQPWNGQYSL DISHVDYPEN EEIKNLLQEQ LNSLSNDIKK 

       910        920        930        940        950        960 
LLLDPEFTLL QRCLLVSRLY GDESELHFWT VAAHYLHSLS QEKSASTTAP KEAAPRDKLS 

       970        980        990       1000       1010       1020 
NPLDICYDVL CENAYFQKFQ LERVNLQEVK RSTYDHTRKC TDQLLLLGQT DRAVQLLLET 

      1030       1040       1050       1060       1070       1080 
SADNQHYYCD SLKACLVTTV TSSGPSQSTI KLVATNMIAN GKLAEGVQLL CLIDKAADAC 

      1090       1100       1110       1120       1130       1140 
RYLQTYGEWN RAAWLAKVRL NPEECADVLR RWVDHLCSPQ VNQKSKALLV LLSLGCFFSV 

      1150       1160       1170       1180       1190       1200 
AETLHSMRYF DRAALFVEAC LKYGAFEVTE DTEKLITAIY ADYARSLKNL GFKQGAVLFA 

      1210       1220 
SKAGAAGKDL LNELESPKEE PIEE 

« Hide

References

« Hide 'large scale' references
[1]"A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells."
Chernova O.B., Hunyadi A., Malaj E., Pan H., Crooks C., Roe B., Cowell J.K.
Oncogene 20:5378-5392(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH ZNF320.
[2]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[3]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[4]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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: Placenta.
[6]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome."
Kim H.G., Ahn J.W., Kurth I., Ullmann R., Kim H.T., Kulharya A., Ha K.S., Itokawa Y., Meliciani I., Wenzel W., Lee D., Rosenberger G., Ozata M., Bick D.P., Sherins R.J., Nagase T., Tekin M., Kim S.H. expand/collapse author list , Kim C.H., Ropers H.H., Gusella J.F., Kalscheuer V., Choi C.Y., Layman L.C.
Am. J. Hum. Genet. 87:465-479(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, CHROMOSOMAL TRANSLOCATION, INTERACTION WITH EMX1, VARIANTS HH14 TRP-395; THR-435; GLN-448; GLN-690 AND LEU-1150, VARIANT GLN-978, CHARACTERIZATION OF VARIANTS HH14 TRP-395; THR-435; GLN-448; GLN-690 AND LEU-1150.
[9]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"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
AF320223 mRNA. Translation: AAK08064.1.
AB037772 mRNA. Translation: BAA92589.2. Different initiation.
AL391425, AC010998 Genomic DNA. Translation: CAH72488.1.
BC040469 mRNA. Translation: AAH40469.1.
BC071564 mRNA. Translation: AAH71564.1.
RefSeqNP_060587.8. NM_018117.11.
UniGeneHs.144447.

3D structure databases

ProteinModelPortalQ9BZH6.
SMRQ9BZH6. Positions 51-193.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120839. 4 interactions.
IntActQ9BZH6. 2 interactions.
STRING9606.ENSP00000263461.

PTM databases

PhosphoSiteQ9BZH6.

Polymorphism databases

DMDM17368715.

Proteomic databases

PaxDbQ9BZH6.
PeptideAtlasQ9BZH6.
PRIDEQ9BZH6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263461; ENSP00000263461; ENSG00000120008.
GeneID55717.
KEGGhsa:55717.
UCSCuc001lfd.1. human.

Organism-specific databases

CTD55717.
GeneCardsGC10P122600.
HGNCHGNC:13831. WDR11.
HPAHPA038980.
MIM606417. gene.
614858. phenotype.
neXtProtNX_Q9BZH6.
Orphanet478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBPA37818.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG236393.
HOGENOMHOG000294084.
HOVERGENHBG060317.
InParanoidQ9BZH6.
OMAEPAIEMI.
OrthoDBEOG7ZSHS5.
PhylomeDBQ9BZH6.
TreeFamTF314830.

Enzyme and pathway databases

SignaLinkQ9BZH6.

Gene expression databases

ArrayExpressQ9BZH6.
BgeeQ9BZH6.
CleanExHS_BRWD2.
GenevestigatorQ9BZH6.

Family and domain databases

Gene3D2.130.10.10. 5 hits.
InterProIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 1 hit.
[Graphical view]
SMARTSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 4 hits.
PROSITEPS00678. WD_REPEATS_1. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiBRWD2.
GenomeRNAi55717.
NextBio60607.
PROQ9BZH6.
SOURCESearch...

Entry information

Entry nameWDR11_HUMAN
AccessionPrimary (citable) accession number: Q9BZH6
Secondary accession number(s): Q5VWA1, Q9P2J6
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: June 1, 2001
Last modified: April 16, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM