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Protein

WD repeat-containing protein 11

Gene

WDR11

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

Functioni

Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gene expression and gonadotropin-releasing hormone production (PubMed:29263200). WDR11 complex facilitates the tethering of Adaptor protein-1 complex (AP-1)-derived vesicles. WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865).2 Publications

GO - Biological processi

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000120008.15
HGNCiHGNC:13831 WDR11
MIMi606417 gene
neXtProtiNX_Q9BZH6

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

Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Golgi apparatus, 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 ZNF320.1 Publication
A chromosomal aberration involving WDR11 is found in a form of Kallmann syndrome. Translocation 46,XY,t(10;12)(q26.12;q13.11).1 Publication
Hypogonadotropic hypogonadism 14 with or without anosmia (HH14)2 Publications
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; decreases capacity to shuttle from cilium to nucleus; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs201051480EnsemblClinVar.1
Natural variantiVAR_069195435A → T in HH14; abolishes the interaction with EMX1; does not affect the subcellular location of the protein; decreases capacity to shuttle from cilium to nucleus; decreases interaction with EMX1; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs318240760EnsemblClinVar.1
Natural variantiVAR_069196448R → Q in HH14; reduces the interaction with EMX1; does not affect the subcellular location of the protein; decreases capacity to shuttle from cilium to nucleus; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs144440500EnsemblClinVar.1
Natural variantiVAR_080856537P → L in HH14; mild phenotype; decreases capacity to shuttle from cilium to nucleus; decreases interaction with EMX1; no effect on GLI3 protein levels. 1 Publication1
Natural variantiVAR_069197690H → Q in HH14; abolishes the interaction with EMX1; decreases capacity to shuttle from cilium to nucleus; decreases interaction with EMX1; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs318240761EnsemblClinVar.1
Natural variantiVAR_0691991150F → L in HH14; does not affect the subcellular location of the protein; decreases capacity to shuttle from cilium to nucleus; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs139007744EnsemblClinVar.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
95496 Pituitary stalk interruption syndrome
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
ProteomicsDBi79847

PTM databases

iPTMnetiQ9BZH6
PhosphoSitePlusiQ9BZH6

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000120008 Expressed in 222 organ(s), highest expression level in kidney
CleanExiHS_BRWD2
ExpressionAtlasiQ9BZH6 baseline and differential
GenevisibleiQ9BZH6 HS

Organism-specific databases

HPAiHPA038980

Interactioni

Subunit structurei

Component of the complex WDR11 composed of C17orf75, FAM91A1 and WDR11; FAM91A1 and WDR11 are required for proper location of the complex (PubMed:29426865). Interacts (via the N-terminal and the central portion of the protein) with EMX1 (PubMed:20887964). Interacts with GLI3; the interaction associateS EMX1 with GLI3 (PubMed:29263200). Interacts with TBC1D23; this interaction may be indirect and recruits TBC1D23 to AP-1-derived vesicles (PubMed:29084197, PubMed:29426865).4 Publications

Protein-protein interaction databases

BioGridi120839, 32 interactors
CORUMiQ9BZH6
IntActiQ9BZH6, 8 interactors
MINTiQ9BZH6
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

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1912 Eukaryota
ENOG410XT4R LUCA
GeneTreeiENSGT00390000004068
HOGENOMiHOG000294084
HOVERGENiHBG060317
InParanoidiQ9BZH6
OMAiELWDIRT
OrthoDBiEOG091G012S
PhylomeDBiQ9BZH6
TreeFamiTF314830

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR036322 WD40_repeat_dom_sf
IPR039694 WDR11
PANTHERiPTHR14593 PTHR14593, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 6 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 3 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R3Z0S4R3Z0_HUMAN
WD repeat-containing protein 11
WDR11
312Annotation score:
S4R3P9S4R3P9_HUMAN
WD repeat-containing protein 11
WDR11
199Annotation score:
S4R451S4R451_HUMAN
WD repeat-containing protein 11
WDR11
95Annotation score:

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; decreases capacity to shuttle from cilium to nucleus; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs201051480EnsemblClinVar.1
Natural variantiVAR_069195435A → T in HH14; abolishes the interaction with EMX1; does not affect the subcellular location of the protein; decreases capacity to shuttle from cilium to nucleus; decreases interaction with EMX1; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs318240760EnsemblClinVar.1
Natural variantiVAR_069196448R → Q in HH14; reduces the interaction with EMX1; does not affect the subcellular location of the protein; decreases capacity to shuttle from cilium to nucleus; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs144440500EnsemblClinVar.1
Natural variantiVAR_080856537P → L in HH14; mild phenotype; decreases capacity to shuttle from cilium to nucleus; decreases interaction with EMX1; no effect on GLI3 protein levels. 1 Publication1
Natural variantiVAR_069197690H → Q in HH14; abolishes the interaction with EMX1; decreases capacity to shuttle from cilium to nucleus; decreases interaction with EMX1; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs318240761EnsemblClinVar.1
Natural variantiVAR_069198978K → Q1 PublicationCorresponds to variant dbSNP:rs144531702EnsemblClinVar.1
Natural variantiVAR_0691991150F → L in HH14; does not affect the subcellular location of the protein; decreases capacity to shuttle from cilium to nucleus; decreases GLI3 protein levels. 2 PublicationsCorresponds to variant dbSNP:rs139007744EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF320223 mRNA Translation: AAK08064.1
AB037772 mRNA Translation: BAA92589.2 Different initiation.
AC010998 Genomic DNA No translation available.
AL391425 Genomic DNA No translation available.
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

Similar proteinsi

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.
AC010998 Genomic DNA No translation available.
AL391425 Genomic DNA No translation available.
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, 32 interactors
CORUMiQ9BZH6
IntActiQ9BZH6, 8 interactors
MINTiQ9BZH6
STRINGi9606.ENSP00000263461

PTM databases

iPTMnetiQ9BZH6
PhosphoSitePlusiQ9BZH6

Polymorphism and mutation databases

BioMutaiWDR11
DMDMi17368715

Proteomic databases

EPDiQ9BZH6
MaxQBiQ9BZH6
PaxDbiQ9BZH6
PeptideAtlasiQ9BZH6
PRIDEiQ9BZH6
ProteomicsDBi79847

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55717
DisGeNETi55717
EuPathDBiHostDB:ENSG00000120008.15
GeneCardsiWDR11
HGNCiHGNC:13831 WDR11
HPAiHPA038980
MalaCardsiWDR11
MIMi606417 gene
614858 phenotype
neXtProtiNX_Q9BZH6
OpenTargetsiENSG00000120008
Orphaneti478 Kallmann syndrome
432 Normosmic congenital hypogonadotropic hypogonadism
95496 Pituitary stalk interruption syndrome
PharmGKBiPA37818
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1912 Eukaryota
ENOG410XT4R LUCA
GeneTreeiENSGT00390000004068
HOGENOMiHOG000294084
HOVERGENiHBG060317
InParanoidiQ9BZH6
OMAiELWDIRT
OrthoDBiEOG091G012S
PhylomeDBiQ9BZH6
TreeFamiTF314830

Enzyme and pathway databases

SignaLinkiQ9BZH6

Miscellaneous databases

ChiTaRSiWDR11 human
GeneWikiiBRWD2
GenomeRNAii55717
PROiPR:Q9BZH6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120008 Expressed in 222 organ(s), highest expression level in kidney
CleanExiHS_BRWD2
ExpressionAtlasiQ9BZH6 baseline and differential
GenevisibleiQ9BZH6 HS

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR036322 WD40_repeat_dom_sf
IPR039694 WDR11
PANTHERiPTHR14593 PTHR14593, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 6 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiWDR11_HUMAN
AccessioniPrimary (citable) accession number: Q9BZH6
Secondary accession number(s): Q5VWA1, Q9P2J6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 156 of the entry and version 1 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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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