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Protein

WD repeat-containing protein 11

Gene

WDR11

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

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000120008-MONOMER.
SignaLinkiQ9BZH6.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 11
Alternative name(s):
Bromodomain and WD repeat-containing protein 2
WD repeat-containing protein 15
Gene namesi
Name:WDR11
Synonyms:BRWD2, KIAA1351, WDR15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:13831. WDR11.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1127 – 1147HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • cytoplasm Source: HPA
  • integral component of membrane Source: UniProtKB-KW
  • lysosomal membrane Source: UniProtKB
  • membrane Source: UniProtKB
  • microtubule cytoskeleton Source: HPA
  • nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:614858
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069194395R → W in HH14; does not affect the interaction with EMX1; does not affect the subcellular location of the protein. 1 PublicationCorresponds to variant rs201051480dbSNPEnsembl.1
Natural variantiVAR_069195435A → T in HH14; abolishes the interaction with EMX1; does not affect the subcellular location of the protein. 1 PublicationCorresponds to variant rs318240760dbSNPEnsembl.1
Natural variantiVAR_069196448R → Q in HH14; reduces the interaction with EMX1; does not affect the subcellular location of the protein. 1 PublicationCorresponds to variant rs144440500dbSNPEnsembl.1
Natural variantiVAR_069197690H → Q in HH14; abolishes the interaction with EMX1. 1 PublicationCorresponds to variant rs318240761dbSNPEnsembl.1
Natural variantiVAR_0691991150F → L in HH14; does not affect the subcellular location of the protein. 1 PublicationCorresponds to variant rs139007744dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome, Proto-oncogene

Organism-specific databases

DisGeNETi55717.
MalaCardsiWDR11.
MIMi614858. phenotype.
OpenTargetsiENSG00000120008.
Orphaneti478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBiPA37818.

Polymorphism and mutation databases

BioMutaiWDR11.
DMDMi17368715.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000508891 – 1224WD repeat-containing protein 11Add BLAST1224

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei205PhosphoserineCombined sources1
Modified residuei209PhosphoserineCombined sources1
Modified residuei402PhosphoserineBy similarity1
Modified residuei406PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BZH6.
MaxQBiQ9BZH6.
PaxDbiQ9BZH6.
PeptideAtlasiQ9BZH6.
PRIDEiQ9BZH6.

PTM databases

iPTMnetiQ9BZH6.
PhosphoSitePlusiQ9BZH6.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000120008.
CleanExiHS_BRWD2.
ExpressionAtlasiQ9BZH6. baseline and differential.
GenevisibleiQ9BZH6. HS.

Organism-specific databases

HPAiHPA038980.

Interactioni

Subunit structurei

Interacts with EMX1 (via the N-terminal and the central portion of the protein. The C-terminus does not.).1 Publication

Protein-protein interaction databases

BioGridi120839. 22 interactors.
IntActiQ9BZH6. 5 interactors.
STRINGi9606.ENSP00000263461.

Structurei

3D structure databases

ProteinModelPortaliQ9BZH6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati59 – 108WD 1Add BLAST50
Repeati111 – 154WD 2Add BLAST44
Repeati354 – 393WD 3Add BLAST40
Repeati471 – 510WD 4Add BLAST40
Repeati566 – 605WD 5Add BLAST40
Repeati708 – 745WD 6Add BLAST38
Repeati747 – 787WD 7Add BLAST41
Repeati793 – 831WD 8Add BLAST39
Repeati893 – 940WD 9Add BLAST48

Sequence similaritiesi

Contains 9 WD repeats.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix, WD repeat

Phylogenomic databases

eggNOGiKOG1912. Eukaryota.
ENOG410XT4R. LUCA.
GeneTreeiENSGT00390000004068.
HOGENOMiHOG000294084.
HOVERGENiHBG060317.
InParanoidiQ9BZH6.
OMAiWDIRTCT.
OrthoDBiEOG091G012S.
PhylomeDBiQ9BZH6.
TreeFamiTF314830.

Family and domain databases

Gene3Di2.130.10.10. 5 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS00678. WD_REPEATS_1. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9BZH6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLPYTVNFKV SARTLTGALN AHNKAAVDWG WQGLIAYGCH SLVVVIDSIT
60 70 80 90 100
AQTLQVLEKH KADVVKVKWA RENYHHNIGS PYCLRLASAD VNGKIIVWDV
110 120 130 140 150
AAGVAQCEIQ EHAKPIQDVQ WLWNQDASRD LLLAIHPPNY IVLWNADTGT
160 170 180 190 200
KLWKKSYADN ILSFSFDPFD PSHLTLLTSE GIVFISDFSP SKPPSGPGKK
210 220 230 240 250
VYISSPHSSP AHNKLATATG AKKALNKVKI LITQEKPSAE FITLNDCLQL
260 270 280 290 300
AYLPSKRNHM LLLYPREILI LDLEVNQTVG VIAIERTGVP FLQVIPCFQR
310 320 330 340 350
DGLFCLHENG CITLRVRRSY NNIFTTSNEE PDPDPVQELT YDLRSQCDAI
360 370 380 390 400
RVTKTVRPFS MVCCPVNENA AALVVSDGRV MIWELKSAVC NRNSRNSSSG
410 420 430 440 450
VSPLYSPVSF CGIPVGVLQN KLPDLSLDNM IGQSAIAGEE HPRGSILREV
460 470 480 490 500
HLKFLLTGLL SGLPAPQFAI RMCPPLTTKN IKMYQPLLAV GTSNGSVLVY
510 520 530 540 550
HLTSGLLHKE LSIHSCEVKG IEWTSLTSFL SFATSTPNNM GLVRNELQLV
560 570 580 590 600
DLPTGRSIAF RGERGNDESA IEMIKVSHLK QYLAVVFRDK PLELWDVRTC
610 620 630 640 650
TLLREMSKNF PTITALEWSP SHNLKSLRKK QLATREAMAR QTVVSDTELS
660 670 680 690 700
IVESSVISLL QEAESKSELS QNISAREHFV FTDIDGQVYH LTVEGNSVKD
710 720 730 740 750
SARIPPDGSM GSITCIAWKG DTLVLGDMDG NLNFWDLKGR VSRGIPTHRS
760 770 780 790 800
WVRKIRFAPG KGNQKLIAMY NDGAEVWDTK EVQMVSSLRS GRNVTFRILD
810 820 830 840 850
VDWCTSDKVI LASDDGCIRV LEMSMKSACF RMDEQELTEP VWCPYLLVPR
860 870 880 890 900
ASLALKAFLL HQPWNGQYSL DISHVDYPEN EEIKNLLQEQ LNSLSNDIKK
910 920 930 940 950
LLLDPEFTLL QRCLLVSRLY GDESELHFWT VAAHYLHSLS QEKSASTTAP
960 970 980 990 1000
KEAAPRDKLS NPLDICYDVL CENAYFQKFQ LERVNLQEVK RSTYDHTRKC
1010 1020 1030 1040 1050
TDQLLLLGQT DRAVQLLLET SADNQHYYCD SLKACLVTTV TSSGPSQSTI
1060 1070 1080 1090 1100
KLVATNMIAN GKLAEGVQLL CLIDKAADAC RYLQTYGEWN RAAWLAKVRL
1110 1120 1130 1140 1150
NPEECADVLR RWVDHLCSPQ VNQKSKALLV LLSLGCFFSV AETLHSMRYF
1160 1170 1180 1190 1200
DRAALFVEAC LKYGAFEVTE DTEKLITAIY ADYARSLKNL GFKQGAVLFA
1210 1220
SKAGAAGKDL LNELESPKEE PIEE
Length:1,224
Mass (Da):136,685
Last modified:June 1, 2001 - v1
Checksum:i918221ABEAEFB4ED
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069194395R → W in HH14; does not affect the interaction with EMX1; does not affect the subcellular location of the protein. 1 PublicationCorresponds to variant rs201051480dbSNPEnsembl.1
Natural variantiVAR_069195435A → T in HH14; abolishes the interaction with EMX1; does not affect the subcellular location of the protein. 1 PublicationCorresponds to variant rs318240760dbSNPEnsembl.1
Natural variantiVAR_069196448R → Q in HH14; reduces the interaction with EMX1; does not affect the subcellular location of the protein. 1 PublicationCorresponds to variant rs144440500dbSNPEnsembl.1
Natural variantiVAR_069197690H → Q in HH14; abolishes the interaction with EMX1. 1 PublicationCorresponds to variant rs318240761dbSNPEnsembl.1
Natural variantiVAR_069198978K → Q.1 PublicationCorresponds to variant rs144531702dbSNPEnsembl.1
Natural variantiVAR_0691991150F → L in HH14; does not affect the subcellular location of the protein. 1 PublicationCorresponds to variant rs139007744dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS7619.1.
RefSeqiNP_060587.8. NM_018117.11.
UniGeneiHs.144447.

Genome annotation databases

EnsembliENST00000263461; ENSP00000263461; ENSG00000120008.
GeneIDi55717.
KEGGihsa:55717.
UCSCiuc021pzt.2. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS7619.1.
RefSeqiNP_060587.8. NM_018117.11.
UniGeneiHs.144447.

3D structure databases

ProteinModelPortaliQ9BZH6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120839. 22 interactors.
IntActiQ9BZH6. 5 interactors.
STRINGi9606.ENSP00000263461.

PTM databases

iPTMnetiQ9BZH6.
PhosphoSitePlusiQ9BZH6.

Polymorphism and mutation databases

BioMutaiWDR11.
DMDMi17368715.

Proteomic databases

EPDiQ9BZH6.
MaxQBiQ9BZH6.
PaxDbiQ9BZH6.
PeptideAtlasiQ9BZH6.
PRIDEiQ9BZH6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263461; ENSP00000263461; ENSG00000120008.
GeneIDi55717.
KEGGihsa:55717.
UCSCiuc021pzt.2. human.

Organism-specific databases

CTDi55717.
DisGeNETi55717.
GeneCardsiWDR11.
HGNCiHGNC:13831. WDR11.
HPAiHPA038980.
MalaCardsiWDR11.
MIMi606417. gene.
614858. phenotype.
neXtProtiNX_Q9BZH6.
OpenTargetsiENSG00000120008.
Orphaneti478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
PharmGKBiPA37818.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1912. Eukaryota.
ENOG410XT4R. LUCA.
GeneTreeiENSGT00390000004068.
HOGENOMiHOG000294084.
HOVERGENiHBG060317.
InParanoidiQ9BZH6.
OMAiWDIRTCT.
OrthoDBiEOG091G012S.
PhylomeDBiQ9BZH6.
TreeFamiTF314830.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000120008-MONOMER.
SignaLinkiQ9BZH6.

Miscellaneous databases

GeneWikiiBRWD2.
GenomeRNAii55717.
PROiQ9BZH6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120008.
CleanExiHS_BRWD2.
ExpressionAtlasiQ9BZH6. baseline and differential.
GenevisibleiQ9BZH6. HS.

Family and domain databases

Gene3Di2.130.10.10. 5 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS00678. WD_REPEATS_1. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiWDR11_HUMAN
AccessioniPrimary (citable) accession number: Q9BZH6
Secondary accession number(s): Q5VWA1, Q9P2J6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: June 1, 2001
Last modified: November 2, 2016
This is version 140 of the entry and version 1 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 10
    Human chromosome 10: 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.