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Entry version 131 (16 Oct 2019)
Sequence version 2 (05 Sep 2012)
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Protein

WD repeat-containing protein 81

Gene

WDR81

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

Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C (PubMed:28404643). May also be involved in maintenance of normal mitochondrial structure and organization (By similarity).By similarity3 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 - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

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

More...
SignaLinki
Q562E7

<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 81Imported
<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:WDR81Imported
<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 17

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:26600 WDR81

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614218 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q562E7

<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

Cytoplasm, Cytoplasmic vesicle, Endosome, Lysosome, Membrane, Mitochondrion

<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

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum.
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_068220856P → L in CAMRQ2. 1 PublicationCorresponds to variant dbSNP:rs587776906Ensembl.1
Natural variantiVAR_0790371333 – 1941Missing in CAMRQ2. 1 PublicationAdd BLAST609
Hydrocephalus, congenital, 3, with brain anomalies (HYC3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC3 features include enlarged ventricles, hypoplastic or absent cerebellum, holoprosencephaly and Dandy-Walker malformation. Most patients die in utero or shortly after birth. HYC3 inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081120282G → E in HYC3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882206Ensembl.1
Natural variantiVAR_0811211096 – 1941Missing in HYC3. 1 PublicationAdd BLAST846

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi544W → A: Loss of interaction with MAP1LC3C; when associated with A-547. 1 Publication1
Mutagenesisi547L → A: Loss of interaction with MAP1LC3C; when associated with A-544. 1 Publication1
Mutagenesisi577S → A: Loss of interaction with MAP1LC3C; when associated with A-578 and A-581. 1 Publication1
Mutagenesisi578Y → A: Loss of interaction with MAP1LC3C; when associated with A-577 and A-581. 1 Publication1
Mutagenesisi581V → A: Loss of interaction with MAP1LC3C; when associated with A-577 and A-578. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
124997

MalaCards human disease database

More...
MalaCardsi
WDR81
MIMi610185 phenotype
617967 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000167716

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

More...
Orphaneti
1766 Dysequilibrium syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142670584

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q562E7

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WDR81

Domain mapping of disease mutations (DMDM)

More...
DMDMi
403314383

<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_00002472441 – 1941WD repeat-containing protein 81Add BLAST1941

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q562E7

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q562E7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q562E7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q562E7

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

More...
PaxDbi
Q562E7

PeptideAtlas

More...
PeptideAtlasi
Q562E7

PRoteomics IDEntifications database

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PRIDEi
Q562E7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
20529
62557 [Q562E7-1]
62558 [Q562E7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q562E7

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

More...
PhosphoSitePlusi
Q562E7

<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

Widely expressed. In the brain, highest levels in cerebellum and corpus callosum.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000167716 Expressed in 191 organ(s), highest expression level in quadriceps femoris

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q562E7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q562E7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA023044

<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

Interacts with WDR91; involved in early to late endosome cargo transport (PubMed:26783301, PubMed:27126989).

Interacts with BECN1; negatively regulates the PI3 kinase/PI3K activity associated with endosomal membranes (PubMed:26783301).

Interacts with SQSTM1; the interaction is direct and regulates the interaction of SQSTM1 with ubiquitinated proteins (PubMed:28404643).

Interacts with MAP1LC3C; recruits MAP1LC3C to ubiquitinated protein aggregates in the aggrephagy process (PubMed:28404643).

3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
125911, 22 interactors

Protein interaction database and analysis system

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IntActi
Q562E7, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000386609

<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 <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini337 – 614BEACHPROSITE-ProRule annotationAdd BLAST278
<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>Repeati1639 – 1677WD 1Add BLAST39
Repeati1686 – 1724WD 2Add BLAST39
Repeati1729 – 1769WD 3Add BLAST41
Repeati1777 – 1815WD 4Add BLAST39
Repeati1819 – 1856WD 5Add BLAST38
Repeati1860 – 1896WD 6Add BLAST37
Repeati1902 – 1941WD 7Add BLAST40

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 650Necessary and sufficient for the interaction with SQSTM11 PublicationAdd BLAST650

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1150 – 1217Glu-richAdd BLAST68
Compositional biasi1587 – 1596Poly-Gly10

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the WD repeat WDR81 family.Curated

Keywords - Domaini

Repeat, Transit peptide, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1786 Eukaryota
KOG4190 Eukaryota
ENOG410XR4I LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00930000151039

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000154851

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q562E7

KEGG Orthology (KO)

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KOi
K17601

Identification of Orthologs from Complete Genome Data

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OMAi
KSVKLYH

Database of Orthologous Groups

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OrthoDBi
101142at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q562E7

TreeFam database of animal gene trees

More...
TreeFami
TF323353

Family and domain databases

Conserved Domains Database

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CDDi
cd06071 Beach, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.1540.10, 1 hit
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000409 BEACH_dom
IPR036372 BEACH_dom_sf
IPR011009 Kinase-like_dom_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02138 Beach, 1 hit
PF00400 WD40, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50978 SSF50978, 1 hit
SSF56112 SSF56112, 1 hit
SSF81837 SSF81837, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50197 BEACH, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

<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>Sequences (6+)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 describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q562E7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAQGSGGREG ALRTPAGGWH SPPSPDMQEL LRSVERDLSI DPRQLAPAPG
60 70 80 90 100
GTHVVALVPA RWLASLRDRR LPLGPCPRAE GLGEAEVRTL LQRSVQRLPA
110 120 130 140 150
GWTRVEVHGL RKRRLSYPLG GGLPFEDGSC GPETLTRFMQ EVAAQNYRNL
160 170 180 190 200
WRHAYHTYGQ PYSHSPAPSA VPALDSVRQA LQRVYGCSFL PVGETTQCPS
210 220 230 240 250
YAREGPCPPR GSPACPSLLR AEALLESPEM LYVVHPYVQF SLHDVVTFSP
260 270 280 290 300
AKLTNSQAKV LFILFRVLRA MDACHRQGLA CGALSLYHIA VDEKLCSELR
310 320 330 340 350
LDLSAYERPE EDENEEAPVA RDEAGIVSQE EQGGQPGQPT GQEELRSLVL
360 370 380 390 400
DWVHGRISNF HYLMQLNRLA GRRQGDPNYH PVLPWVVDFT TPHGRFRDLR
410 420 430 440 450
KSKFRLNKGD KQLDFTYEMT RQAFVAGGAG GGEPPHVPHH ISDVLSDITY
460 470 480 490 500
YVYKARRTPR SVLCGHVRAQ WEPHEYPASM ERMQNWTPDE CIPEFYTDPS
510 520 530 540 550
IFRSIHPDMP DLDVPAWCSS SQEFVAAHRA LLESREVSRD LHHWIDLTFG
560 570 580 590 600
YKLQGKEAVK EKNVCLHLVD AHTHLASYGV VQLFDQPHPQ RLAGAPALAP
610 620 630 640 650
EPPLIPKLLV QTIQETTGRE DFTENPGQLP NGVGRPVLEA TPCEASWTRD
660 670 680 690 700
RPVAGEDDLE QATEALDSIS LAGKAGDQLG SSSQASPGLL SFSVASASRP
710 720 730 740 750
GRRNKAAGAD PGEGEEGRIL LPEGFNPMQA LEELEKTGNF LAKGLGGLLE
760 770 780 790 800
VPEQPRVQPA VPLQCLLHRD MQALGVLLAE MVFATRVRTL QPDAPLWVRF
810 820 830 840 850
QAVRGLCTRH PKEVPVSLQP VLDTLLQMSG PEVPMGAERG KLDQLFEYRP
860 870 880 890 900
VSQGLPPPCP SQLLSPFSSV VPFPPYFPAL HRFILLYQAR RVEDEAQGRE
910 920 930 940 950
LVFALWQQLG AVLKDITPEG LEILLPFVLS LMSEEHTAVY TAWYLFEPVA
960 970 980 990 1000
KALGPKNANK YLLKPLIGAY ESPCQLHGRF YLYTDCFVAQ LMVRLGLQAF
1010 1020 1030 1040 1050
LTHLLPHVLQ VLAGAEASQE ESKDLAGAAE EEESGLPGAG PGSCAFGEEI
1060 1070 1080 1090 1100
PMDGEPPASS GLGLPDYTSG VSFHDQADLP ETEDFQAGLY VTESPQPQEA
1110 1120 1130 1140 1150
EAVSLGRLSD KSSTSETSLG EERAPDEGGA PVDKSSLRSG DSSQDLKQSE
1160 1170 1180 1190 1200
GSEEEEEEED SCVVLEEEEG EQEEVTGASE LTLSDTVLSM ETVVAGGSGG
1210 1220 1230 1240 1250
DGEEEEEALP EQSEGKEQKI LLDTACKMVR WLSAKLGPTV ASRHVARNLL
1260 1270 1280 1290 1300
RLLTSCYVGP TRQQFTVSSG ESPPLSAGNI YQKRPVLGDI VSGPVLSCLL
1310 1320 1330 1340 1350
HIARLYGEPV LTYQYLPYIS YLVAPGSASG PSRLNSRKEA GLLAAVTLTQ
1360 1370 1380 1390 1400
KIIVYLSDTT LMDILPRISH EVLLPVLSFL TSLVTGFPSG AQARTILCVK
1410 1420 1430 1440 1450
TISLIALICL RIGQEMVQQH LSEPVATFFQ VFSQLHELRQ QDLKLDPAGR
1460 1470 1480 1490 1500
GEGQLPQVVF SDGQQRPVDP ALLDELQKVF TLEMAYTIYV PFSCLLGDII
1510 1520 1530 1540 1550
RKIIPNHELV GELAALYLES ISPSSRNPAS VEPTMPGTGP EWDPHGGGCP
1560 1570 1580 1590 1600
QDDGHSGTFG SVLVGNRIQI PNDSRPENPG PLGPISGVGG GGLGSGSDDN
1610 1620 1630 1640 1650
ALKQELPRSV HGLSGNWLAY WQYEIGVSQQ DAHFHFHQIR LQSFPGHSGA
1660 1670 1680 1690 1700
VKCVAPLSSE DFFLSGSKDR TVRLWPLYNY GDGTSETAPR LVYTQHRKSV
1710 1720 1730 1740 1750
FFVGQLEAPQ HVVSCDGAVH VWDPFTGKTL RTVEPLDSRV PLTAVAVMPA
1760 1770 1780 1790 1800
PHTSITMASS DSTLRFVDCR KPGLQHEFRL GGGLNPGLVR ALAISPSGRS
1810 1820 1830 1840 1850
VVAGFSSGFM VLLDTRTGLV LRGWPAHEGD ILQIKAVEGS VLVSSSSDHS
1860 1870 1880 1890 1900
LTVWKELEQK PTHHYKSASD PIHTFDLYGS EVVTGTVSNK IGVCSLLEPP
1910 1920 1930 1940
SQATTKLSSE NFRGTLTSLA LLPTKRHLLL GSDNGVIRLL A
Length:1,941
Mass (Da):211,697
Last modified:September 5, 2012 - v2
<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:iF6E62BC07FAAE8DB
GO
Isoform 2 (identifier: Q562E7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1051: Missing.
     1115-1312: Missing.

Note: No experimental confirmation available.
Show »
Length:692
Mass (Da):74,572
Checksum:i758799F2476008EE
GO
Isoform 3 (identifier: Q562E7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1051: Missing.

Note: No experimental confirmation available.
Show »
Length:890
Mass (Da):95,676
Checksum:i96E0102018E3D532
GO
Isoform 4 (identifier: Q562E7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1776-1941: HEFRLGGGLN...SDNGVIRLLA → VRGVQFPEHS...KARMLFWGPS

Note: No experimental confirmation available.
Show »
Length:1,811
Mass (Da):197,997
Checksum:i94A1CFEE27D7F3B6
GO
Isoform 5 (identifier: Q562E7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1203: Missing.
     1204-1223: EEEEALPEQSEGKEQKILLD → MLVRVVLSLTPSFPEPSALY

Note: No experimental confirmation available.
Show »
Length:738
Mass (Da):79,777
Checksum:iB8420D365D43F9AD
GO
Isoform 6 (identifier: Q562E7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1227: Missing.

Note: No experimental confirmation available.
Show »
Length:714
Mass (Da):77,172
Checksum:iAA6104BD1F60847A
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PDG3E9PDG3_HUMAN
WD repeat-containing protein 81
WDR81
580Annotation 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>
A0A0J9YXM6A0A0J9YXM6_HUMAN
WD repeat-containing protein 81
WDR81
1,940Annotation 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>
I3L1G2I3L1G2_HUMAN
WD repeat-containing protein 81
WDR81
197Annotation 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>
C9JD20C9JD20_HUMAN
WD repeat-containing protein 81
WDR81
132Annotation 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>
K7ELV8K7ELV8_HUMAN
WD repeat-containing protein 81
WDR81
123Annotation 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>
C9JCF9C9JCF9_HUMAN
WD repeat-containing protein 81
WDR81
172Annotation 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>
I3L3U7I3L3U7_HUMAN
WD repeat-containing protein 81
WDR81
171Annotation 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 BAG53978 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1033Missing in BAB84937 (PubMed:14702039).Curated1
Sequence conflicti1051P → L in CAD39042 (PubMed:17974005).Curated1
Sequence conflicti1298C → Y in BAC03593 (PubMed:14702039).Curated1
Sequence conflicti1540P → H in BAB84937 (PubMed:14702039).Curated1
Sequence conflicti1573D → G in BAG53978 (PubMed:14702039).Curated1
Sequence conflicti1744A → V in BAG54603 (PubMed:14702039).Curated1
Sequence conflicti1760S → T in BAC03593 (PubMed:14702039).Curated1
Sequence conflicti1776H → Y in BAC03593 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081120282G → E in HYC3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882206Ensembl.1
Natural variantiVAR_068220856P → L in CAMRQ2. 1 PublicationCorresponds to variant dbSNP:rs587776906Ensembl.1
Natural variantiVAR_0811211096 – 1941Missing in HYC3. 1 PublicationAdd BLAST846
Natural variantiVAR_0790371333 – 1941Missing in CAMRQ2. 1 PublicationAdd BLAST609
Natural variantiVAR_0621071535M → V1 PublicationCorresponds to variant dbSNP:rs3809870Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0440631 – 1227Missing in isoform 6. CuratedAdd BLAST1227
Alternative sequenceiVSP_0440641 – 1203Missing in isoform 5. 1 PublicationAdd BLAST1203
Alternative sequenceiVSP_0440651 – 1051Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST1051
Alternative sequenceiVSP_0199551115 – 1312Missing in isoform 2. 1 PublicationAdd BLAST198
Alternative sequenceiVSP_0440661204 – 1223EEEEA…KILLD → MLVRVVLSLTPSFPEPSALY in isoform 5. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_0440671776 – 1941HEFRL…IRLLA → VRGVQFPEHSPGSLGTWQGG ETPQKQKARMLFWGPS in isoform 4. 1 PublicationAdd BLAST166

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK074111 mRNA Translation: BAB84937.1
AK091136 mRNA Translation: BAC03593.1
AK123896 mRNA Translation: BAG53978.1 Different initiation.
AK127946 mRNA Translation: BAG54603.1
AK298567 mRNA Translation: BAH12815.1
AC130343 Genomic DNA No translation available.
BC092513 mRNA Translation: AAH92513.1
BC114568 mRNA Translation: AAI14569.1
AL834379 mRNA Translation: CAD39042.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS54061.1 [Q562E7-5]
CCDS54062.1 [Q562E7-1]
CCDS54063.1 [Q562E7-6]

NCBI Reference Sequences

More...
RefSeqi
NP_001157145.1, NM_001163673.1 [Q562E7-5]
NP_001157281.1, NM_001163809.1 [Q562E7-1]
NP_001157283.1, NM_001163811.1 [Q562E7-6]
NP_689561.2, NM_152348.3 [Q562E7-3]
XP_011521953.1, XM_011523651.2 [Q562E7-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000309182; ENSP00000312074; ENSG00000167716 [Q562E7-3]
ENST00000409644; ENSP00000386609; ENSG00000167716 [Q562E7-1]
ENST00000419248; ENSP00000407845; ENSG00000167716 [Q562E7-6]
ENST00000437219; ENSP00000391074; ENSG00000167716 [Q562E7-5]
ENST00000611758; ENSP00000480442; ENSG00000276021 [Q562E7-3]
ENST00000613381; ENSP00000480101; ENSG00000276021 [Q562E7-6]
ENST00000613616; ENSP00000477991; ENSG00000276021 [Q562E7-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
124997

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:124997

UCSC genome browser

More...
UCSCi
uc002fth.3 human [Q562E7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AK074111 mRNA Translation: BAB84937.1
AK091136 mRNA Translation: BAC03593.1
AK123896 mRNA Translation: BAG53978.1 Different initiation.
AK127946 mRNA Translation: BAG54603.1
AK298567 mRNA Translation: BAH12815.1
AC130343 Genomic DNA No translation available.
BC092513 mRNA Translation: AAH92513.1
BC114568 mRNA Translation: AAI14569.1
AL834379 mRNA Translation: CAD39042.1
CCDSiCCDS54061.1 [Q562E7-5]
CCDS54062.1 [Q562E7-1]
CCDS54063.1 [Q562E7-6]
RefSeqiNP_001157145.1, NM_001163673.1 [Q562E7-5]
NP_001157281.1, NM_001163809.1 [Q562E7-1]
NP_001157283.1, NM_001163811.1 [Q562E7-6]
NP_689561.2, NM_152348.3 [Q562E7-3]
XP_011521953.1, XM_011523651.2 [Q562E7-3]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi125911, 22 interactors
IntActiQ562E7, 8 interactors
STRINGi9606.ENSP00000386609

PTM databases

iPTMnetiQ562E7
PhosphoSitePlusiQ562E7

Polymorphism and mutation databases

BioMutaiWDR81
DMDMi403314383

Proteomic databases

EPDiQ562E7
jPOSTiQ562E7
MassIVEiQ562E7
MaxQBiQ562E7
PaxDbiQ562E7
PeptideAtlasiQ562E7
PRIDEiQ562E7
ProteomicsDBi20529
62557 [Q562E7-1]
62558 [Q562E7-2]

Genome annotation databases

EnsembliENST00000309182; ENSP00000312074; ENSG00000167716 [Q562E7-3]
ENST00000409644; ENSP00000386609; ENSG00000167716 [Q562E7-1]
ENST00000419248; ENSP00000407845; ENSG00000167716 [Q562E7-6]
ENST00000437219; ENSP00000391074; ENSG00000167716 [Q562E7-5]
ENST00000611758; ENSP00000480442; ENSG00000276021 [Q562E7-3]
ENST00000613381; ENSP00000480101; ENSG00000276021 [Q562E7-6]
ENST00000613616; ENSP00000477991; ENSG00000276021 [Q562E7-5]
GeneIDi124997
KEGGihsa:124997
UCSCiuc002fth.3 human [Q562E7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
124997
DisGeNETi124997

GeneCards: human genes, protein and diseases

More...
GeneCardsi
WDR81
HGNCiHGNC:26600 WDR81
HPAiHPA023044
MalaCardsiWDR81
MIMi610185 phenotype
614218 gene
617967 phenotype
neXtProtiNX_Q562E7
OpenTargetsiENSG00000167716
Orphaneti1766 Dysequilibrium syndrome
PharmGKBiPA142670584

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1786 Eukaryota
KOG4190 Eukaryota
ENOG410XR4I LUCA
GeneTreeiENSGT00930000151039
HOGENOMiHOG000154851
InParanoidiQ562E7
KOiK17601
OMAiKSVKLYH
OrthoDBi101142at2759
PhylomeDBiQ562E7
TreeFamiTF323353

Enzyme and pathway databases

SignaLinkiQ562E7

Miscellaneous databases

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

More...
ChiTaRSi
WDR81 human

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

More...
GenomeRNAii
124997
PharosiQ562E7

Protein Ontology

More...
PROi
PR:Q562E7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167716 Expressed in 191 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ562E7 baseline and differential
GenevisibleiQ562E7 HS

Family and domain databases

CDDicd06071 Beach, 1 hit
Gene3Di1.10.1540.10, 1 hit
2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR000409 BEACH_dom
IPR036372 BEACH_dom_sf
IPR011009 Kinase-like_dom_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF02138 Beach, 1 hit
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM01026 Beach, 1 hit
SM00320 WD40, 6 hits
SUPFAMiSSF50978 SSF50978, 1 hit
SSF56112 SSF56112, 1 hit
SSF81837 SSF81837, 1 hit
PROSITEiView protein in PROSITE
PS50197 BEACH, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiWDR81_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: Q562E7
Secondary accession number(s): B3KW16
, B3KXU1, B7Z579, E9PHG7, Q24JP6, Q8N277, Q8N3F3, Q8TEL1
<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: July 25, 2006
Last sequence update: September 5, 2012
Last modified: October 16, 2019
This is version 131 of the entry and version 2 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 chromosome 17
    Human chromosome 17: 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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