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Entry version 163 (16 Oct 2019)
Sequence version 1 (01 Jun 2001)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9BZH6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
WD repeat-containing protein 11
Alternative name(s):
Bromodomain and WD repeat-containing protein 2
WD repeat-containing protein 15
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:WDR11
Synonyms:BRWD2, KIAA1351, WDR15
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:13831 WDR11

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606417 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BZH6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Golgi apparatus, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs761599645Ensembl.1
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

DisGeNET

More...
DisGeNETi
55717

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
WDR11

MalaCards human disease database

More...
MalaCardsi
WDR11
MIMi614858 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000120008

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
478 Kallmann syndrome
432 Normosmic congenital hypogonadotropic hypogonadism
95496 Pituitary stalk interruption syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA37818

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BZH6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WDR11

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17368715

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000508891 – 1224WD repeat-containing protein 11Add BLAST1224

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei205PhosphoserineCombined sources1
Modified residuei209PhosphoserineCombined sources1
Modified residuei402PhosphoserineBy similarity1
Modified residuei406PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9BZH6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BZH6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9BZH6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BZH6

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9BZH6

PeptideAtlas

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PeptideAtlasi
Q9BZH6

PRoteomics IDEntifications database

More...
PRIDEi
Q9BZH6

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
79847

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9BZH6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9BZH6

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9BZH6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000120008 Expressed in 222 organ(s), highest expression level in kidney

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BZH6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BZH6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038980

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120839, 37 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9BZH6

Protein interaction database and analysis system

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IntActi
Q9BZH6, 18 interactors

Molecular INTeraction database

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MINTi
Q9BZH6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263461

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1912 Eukaryota
ENOG410XT4R LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000004068

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000294084

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BZH6

Identification of Orthologs from Complete Genome Data

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OMAi
THRSWVK

Database of Orthologous Groups

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OrthoDBi
617629at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BZH6

TreeFam database of animal gene trees

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TreeFami
TF314830

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 3 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR036322 WD40_repeat_dom_sf
IPR039694 WDR11

The PANTHER Classification System

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PANTHERi
PTHR14593 PTHR14593, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00320 WD40, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50978 SSF50978, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00678 WD_REPEATS_1, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i918221ABEAEFB4ED
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R451S4R451_HUMAN
WD repeat-containing protein 11
WDR11
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R3P9S4R3P9_HUMAN
WD repeat-containing protein 11
WDR11
199Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA92589 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 PublicationCorresponds to variant dbSNP:rs761599645Ensembl.1
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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS7619.1

NCBI Reference Sequences

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RefSeqi
NP_060587.8, NM_018117.11

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000263461; ENSP00000263461; ENSG00000120008

Database of genes from NCBI RefSeq genomes

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GeneIDi
55717

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55717

UCSC genome browser

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UCSCi
uc021pzt.2 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120839, 37 interactors
CORUMiQ9BZH6
IntActiQ9BZH6, 18 interactors
MINTiQ9BZH6
STRINGi9606.ENSP00000263461

PTM databases

iPTMnetiQ9BZH6
PhosphoSitePlusiQ9BZH6
SwissPalmiQ9BZH6

Polymorphism and mutation databases

BioMutaiWDR11
DMDMi17368715

Proteomic databases

EPDiQ9BZH6
jPOSTiQ9BZH6
MassIVEiQ9BZH6
MaxQBiQ9BZH6
PaxDbiQ9BZH6
PeptideAtlasiQ9BZH6
PRIDEiQ9BZH6
ProteomicsDBi79847

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55717
DisGeNETi55717

GeneCards: human genes, protein and diseases

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GeneCardsi
WDR11
GeneReviewsiWDR11
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

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1912 Eukaryota
ENOG410XT4R LUCA
GeneTreeiENSGT00390000004068
HOGENOMiHOG000294084
InParanoidiQ9BZH6
OMAiTHRSWVK
OrthoDBi617629at2759
PhylomeDBiQ9BZH6
TreeFamiTF314830

Enzyme and pathway databases

SignaLinkiQ9BZH6

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
WDR11 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BRWD2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55717
PharosiQ9BZH6

Protein Ontology

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PROi
PR:Q9BZH6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000120008 Expressed in 222 organ(s), highest expression level in kidney
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiWDR11_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BZH6
Secondary accession number(s): Q5VWA1, Q9P2J6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: June 1, 2001
Last modified: October 16, 2019
This is version 163 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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