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Entry version 170 (12 Aug 2020)
Sequence version 3 (29 Mar 2004)
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Protein

WD repeat-containing protein 35

Gene

WDR35

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

As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking (PubMed:21473986, PubMed:28400947, PubMed:29220510). May promote CASP3 activation and TNF-stimulated apoptosis.4 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

<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>Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9P2L0

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5610787, Hedgehog 'off' state
R-HSA-5620924, Intraflagellar transport

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

More...
SignaLinki
Q9P2L0

<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%5Fand%5Ftaxonomy%5Fsection">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 35Curated
Alternative name(s):
Intraflagellar transport protein 121 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:WDR35Imported
Synonyms:IFT1212 Publications, KIAA1336
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000118965.14

Human Gene Nomenclature Database

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HGNCi
HGNC:29250, WDR35

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613602, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P2L0

<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

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<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

Cranioectodermal dysplasia 2 (CED2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth.
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_064581626E → G in CED2. 1 PublicationCorresponds to variant dbSNP:rs267607174Ensembl.1
Natural variantiVAR_064582875A → T in CED2. 1 PublicationCorresponds to variant dbSNP:rs267607175Ensembl.1
Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. WDR35 mutations cause short rib-polydactyly syndrome through impaired cilia formation. Primary fibroblasts from SRTD7 patients lacking WDR35 fail to produce cilia (PubMed:21473986).1 Publication
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065955261W → R in SRTD7. 1 PublicationCorresponds to variant dbSNP:rs431905505EnsemblClinVar.1
Natural variantiVAR_076784311W → L in SRTD7 and SRTD7/20; the SRTD7/20 patient also carries variant INTU 276-Q--L-942 del; chondrocyte cell lines from a patient show a reduction of cilia indicating a defect in ciliogenesis. 2 PublicationsCorresponds to variant dbSNP:rs200649783EnsemblClinVar.1
Natural variantiVAR_080632478R → K in SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis. 1 Publication1
Natural variantiVAR_080633527 – 1181Missing in SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis. 1 PublicationAdd BLAST655
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic (SRTD7/20)1 Publication
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. SRTD7/20 can be caused by co-occurrence of WDR35 variant p.Trp311Leu and INTU p.Gln276Ter. One such patient has been reported.1 Publication
Disease descriptionA digenic form of short-rib thoracic dysplasia caused by double heterozygosity for a mutation in the WDR35 gene and a mutation in the INTU gene. Short-rib thoracic dysplasia is part of a group of ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076784311W → L in SRTD7 and SRTD7/20; the SRTD7/20 patient also carries variant INTU 276-Q--L-942 del; chondrocyte cell lines from a patient show a reduction of cilia indicating a defect in ciliogenesis. 2 PublicationsCorresponds to variant dbSNP:rs200649783EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNET

More...
DisGeNETi
57539

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

More...
GeneReviewsi
WDR35

MalaCards human disease database

More...
MalaCardsi
WDR35
MIMi613610, phenotype
614091, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000118965

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

More...
Orphaneti
1515, Cranioectodermal dysplasia
498497, Short rib-polydactyly syndrome type 5
93271, Short rib-polydactyly syndrome, Verma-Naumoff type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134928987

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9P2L0, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
WDR35

Domain mapping of disease mutations (DMDM)

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DMDMi
48474987

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000513841 – 1181WD repeat-containing protein 35Add BLAST1181

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9P2L0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9P2L0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9P2L0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9P2L0

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

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PaxDbi
Q9P2L0

PeptideAtlas

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PeptideAtlasi
Q9P2L0

PRoteomics IDEntifications database

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PRIDEi
Q9P2L0

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
83843 [Q9P2L0-1]
83844 [Q9P2L0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9P2L0

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

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PhosphoSitePlusi
Q9P2L0

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By TNF.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000118965, Expressed in bronchial epithelial cell and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9P2L0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9P2L0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000118965, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the IFT complex A (IFT-A) complex (PubMed:20889716, PubMed:27932497, PubMed:29220510). IFT-A complex is divided into a core subcomplex composed of IFT122:IFT140:WDR19 which is associated with TULP3 and a peripheral subcomplex composed of IFT43:WDR35:TTC21B (PubMed:27932497, PubMed:29220510).

Interacts directy with IFT122, ITF43 and TTC21B (PubMed:29220510, PubMed:27932497).

Interacts with IFT43 (PubMed:19450523).

4 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
121598, 28 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-5021, IFT-A complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9P2L0

Protein interaction database and analysis system

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IntActi
Q9P2L0, 21 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000314444

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9P2L0, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9P2L0

Database of comparative protein structure models

More...
ModBasei
Search...

<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>Repeati4 – 43WD 1Add BLAST40
Repeati61 – 100WD 2Add BLAST40
Repeati105 – 143WD 3Add BLAST39
Repeati147 – 185WD 4Add BLAST39
Repeati193 – 241WD 5Add BLAST49
Repeati246 – 288WD 6Add BLAST43

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2041, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000155745

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9P2L0

KEGG Orthology (KO)

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KOi
K19674

Identification of Orthologs from Complete Genome Data

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OMAi
WHYHTPK

Database of Orthologous Groups

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OrthoDBi
95796at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9P2L0

TreeFam database of animal gene trees

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TreeFami
TF314076

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 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
IPR024977, Apc4_WD40_dom
IPR011990, TPR-like_helical_dom_sf
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf
IPR017233, WDR35

The PANTHER Classification System

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PANTHERi
PTHR16517:SF1, PTHR16517:SF1, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF12894, ANAPC4_WD40, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF037536, WD_repeat_p35, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00320, WD40, 5 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50978, SSF50978, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2L0-1) [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
MFFYLSKKIS IPNNVKLQCV SWNKEQGFIA CGGEDGLLKV LKLETQTDDA
60 70 80 90 100
KLRGLAAPSN LSMNQTLEGH SGSVQVVTWN EQYQKLTTSD ENGLIIVWML
110 120 130 140 150
YKGSWIEEMI NNRNKSVVRS MSWNADGQKI CIVYEDGAVI VGSVDGNRIW
160 170 180 190 200
GKDLKGIQLS HVTWSADSKV LLFGMANGEI HIYDNQGNFM IKMKLSCLVN
210 220 230 240 250
VTGAISIAGI HWYHGTEGYV EPDCPCLAVC FDNGRCQIMR HENDQNPVLI
260 270 280 290 300
DTGMYVVGIQ WNHMGSVLAV AGFQKAAMQD KDVNIVQFYT PFGEHLGTLK
310 320 330 340 350
VPGKEISALS WEGGGLKIAL AVDSFIYFAN IRPNYKWGYC SNTVVYAYTR
360 370 380 390 400
PDRPEYCVVF WDTKNNEKYV KYVKGLISIT TCGDFCILAT KADENHPQEE
410 420 430 440 450
NEMETFGATF VLVLCNSIGT PLDPKYIDIV PLFVAMTKTH VIAASKEAFY
460 470 480 490 500
TWQYRVAKKL TALEINQITR SRKEGRERIY HVDDTPSGSM DGVLDYSKTI
510 520 530 540 550
QGTRDPICAI TASDKILIVG RESGTIQRYS LPNVGLIQKY SLNCRAYQLS
560 570 580 590 600
LNCNSSRLAI IDISGVLTFF DLDARVTDST GQQVVGELLK LERRDVWDMK
610 620 630 640 650
WAKDNPDLFA MMEKTRMYVF RNLDPEEPIQ TSGYICNFED LEIKSVLLDE
660 670 680 690 700
ILKDPEHPNK DYLINFEIRS LRDSRALIEK VGIKDASQFI EDNPHPRLWR
710 720 730 740 750
LLAEAALQKL DLYTAEQAFV RCKDYQGIKF VKRLGKLLSE SMKQAEVVGY
760 770 780 790 800
FGRFEEAERT YLEMDRRDLA IGLRLKLGDW FRVLQLLKTG SGDADDSLLE
810 820 830 840 850
QANNAIGDYF ADRQKWLNAV QYYVQGRNQE RLAECYYMLE DYEGLENLAI
860 870 880 890 900
SLPENHKLLP EIAQMFVRVG MCEQAVTAFL KCSQPKAAVD TCVHLNQWNK
910 920 930 940 950
AVELAKNHSM KEIGSLLARY ASHLLEKNKT LDAIELYRKA NYFFDAAKLM
960 970 980 990 1000
FKIADEEAKK GSKPLRVKKL YVLSALLIEQ YHEQMKNAQR GKVKGKSSEA
1010 1020 1030 1040 1050
TSALAGLLEE EVLSTTDRFT DNAWRGAEAY HFFILAQRQL YEGCVDTALK
1060 1070 1080 1090 1100
TALHLKDYED IIPPVEIYSL LALCACASRA FGTCSKAFIK LKSLETLSSE
1110 1120 1130 1140 1150
QKQQYEDLAL EIFTKHTSKD NRKPELDSLM EGGEGKLPTC VATGSPITEY
1160 1170 1180
QFWMCSVCKH GVLAQEISHY SFCPLCHSPV G
Length:1,181
Mass (Da):133,547
Last modified:March 29, 2004 - v3
<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:i1C0FFAAD0287F129
GO
Isoform 2 (identifier: Q9P2L0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     399-409: Missing.

Show »
Length:1,170
Mass (Da):132,308
Checksum:i24A1BABB959DF302
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
F8WB94F8WB94_HUMAN
WD repeat-containing protein 35
WDR35
873Annotation 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>
H0Y6C0H0Y6C0_HUMAN
WD repeat-containing protein 35
WDR35
406Annotation 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>
H7BZK8H7BZK8_HUMAN
WD repeat-containing protein 35
WDR35
250Annotation 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 BAA92574 differs from that shown. Reason: Erroneous initiation. Extended 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 conflicti1078S → G in AAH36659 (PubMed:15489334).Curated1
Sequence conflicti1171S → G in BAG53797 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05342818Q → R. Corresponds to variant dbSNP:rs1060742EnsemblClinVar.1
Natural variantiVAR_065955261W → R in SRTD7. 1 PublicationCorresponds to variant dbSNP:rs431905505EnsemblClinVar.1
Natural variantiVAR_076784311W → L in SRTD7 and SRTD7/20; the SRTD7/20 patient also carries variant INTU 276-Q--L-942 del; chondrocyte cell lines from a patient show a reduction of cilia indicating a defect in ciliogenesis. 2 PublicationsCorresponds to variant dbSNP:rs200649783EnsemblClinVar.1
Natural variantiVAR_080632478R → K in SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis. 1 Publication1
Natural variantiVAR_080633527 – 1181Missing in SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis. 1 PublicationAdd BLAST655
Natural variantiVAR_064581626E → G in CED2. 1 PublicationCorresponds to variant dbSNP:rs267607174Ensembl.1
Natural variantiVAR_064582875A → T in CED2. 1 PublicationCorresponds to variant dbSNP:rs267607175Ensembl.1
Natural variantiVAR_062102878A → P. Corresponds to variant dbSNP:rs2293669Ensembl.1
Natural variantiVAR_062103878A → T1 PublicationCorresponds to variant dbSNP:rs2293669Ensembl.1
Natural variantiVAR_053429983E → G1 PublicationCorresponds to variant dbSNP:rs1191778Ensembl.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_009732399 – 409Missing in isoform 2. 2 PublicationsAdd BLAST11

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB037757 mRNA Translation: BAA92574.2 Different initiation.
AK122917 mRNA Translation: BAG53797.1
AC079145 Genomic DNA Translation: AAX88936.1
CH471053 Genomic DNA Translation: EAX00841.1
BC036659 mRNA Translation: AAH36659.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1695.1 [Q9P2L0-2]
CCDS33152.1 [Q9P2L0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001006658.1, NM_001006657.1 [Q9P2L0-1]
NP_065830.2, NM_020779.3 [Q9P2L0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000281405; ENSP00000281405; ENSG00000118965 [Q9P2L0-2]
ENST00000345530; ENSP00000314444; ENSG00000118965 [Q9P2L0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57539

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57539

UCSC genome browser

More...
UCSCi
uc002rdi.5, human [Q9P2L0-1]

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
AB037757 mRNA Translation: BAA92574.2 Different initiation.
AK122917 mRNA Translation: BAG53797.1
AC079145 Genomic DNA Translation: AAX88936.1
CH471053 Genomic DNA Translation: EAX00841.1
BC036659 mRNA Translation: AAH36659.1
CCDSiCCDS1695.1 [Q9P2L0-2]
CCDS33152.1 [Q9P2L0-1]
RefSeqiNP_001006658.1, NM_001006657.1 [Q9P2L0-1]
NP_065830.2, NM_020779.3 [Q9P2L0-2]

3D structure databases

SMRiQ9P2L0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121598, 28 interactors
ComplexPortaliCPX-5021, IFT-A complex
CORUMiQ9P2L0
IntActiQ9P2L0, 21 interactors
STRINGi9606.ENSP00000314444

PTM databases

iPTMnetiQ9P2L0
PhosphoSitePlusiQ9P2L0

Polymorphism and mutation databases

BioMutaiWDR35
DMDMi48474987

Proteomic databases

EPDiQ9P2L0
jPOSTiQ9P2L0
MassIVEiQ9P2L0
MaxQBiQ9P2L0
PaxDbiQ9P2L0
PeptideAtlasiQ9P2L0
PRIDEiQ9P2L0
ProteomicsDBi83843 [Q9P2L0-1]
83844 [Q9P2L0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
50378, 59 antibodies

Genome annotation databases

EnsembliENST00000281405; ENSP00000281405; ENSG00000118965 [Q9P2L0-2]
ENST00000345530; ENSP00000314444; ENSG00000118965 [Q9P2L0-1]
GeneIDi57539
KEGGihsa:57539
UCSCiuc002rdi.5, human [Q9P2L0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57539
DisGeNETi57539
EuPathDBiHostDB:ENSG00000118965.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
WDR35
GeneReviewsiWDR35
HGNCiHGNC:29250, WDR35
HPAiENSG00000118965, Low tissue specificity
MalaCardsiWDR35
MIMi613602, gene
613610, phenotype
614091, phenotype
neXtProtiNX_Q9P2L0
OpenTargetsiENSG00000118965
Orphaneti1515, Cranioectodermal dysplasia
498497, Short rib-polydactyly syndrome type 5
93271, Short rib-polydactyly syndrome, Verma-Naumoff type
PharmGKBiPA134928987

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2041, Eukaryota
GeneTreeiENSGT00940000155745
InParanoidiQ9P2L0
KOiK19674
OMAiWHYHTPK
OrthoDBi95796at2759
PhylomeDBiQ9P2L0
TreeFamiTF314076

Enzyme and pathway databases

PathwayCommonsiQ9P2L0
ReactomeiR-HSA-5610787, Hedgehog 'off' state
R-HSA-5620924, Intraflagellar transport
SignaLinkiQ9P2L0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
57539, 6 hits in 873 CRISPR screens

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

More...
ChiTaRSi
WDR35, human

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

More...
GenomeRNAii
57539
PharosiQ9P2L0, Tbio

Protein Ontology

More...
PROi
PR:Q9P2L0
RNActiQ9P2L0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000118965, Expressed in bronchial epithelial cell and 213 other tissues
ExpressionAtlasiQ9P2L0, baseline and differential
GenevisibleiQ9P2L0, HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR024977, Apc4_WD40_dom
IPR011990, TPR-like_helical_dom_sf
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf
IPR017233, WDR35
PANTHERiPTHR16517:SF1, PTHR16517:SF1, 1 hit
PfamiView protein in Pfam
PF12894, ANAPC4_WD40, 1 hit
PIRSFiPIRSF037536, WD_repeat_p35, 1 hit
SMARTiView protein in SMART
SM00320, WD40, 5 hits
SUPFAMiSSF50978, SSF50978, 1 hit
PROSITEiView protein in PROSITE
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 nameiWDR35_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: Q9P2L0
Secondary accession number(s): B3KVI5, Q4ZG01, Q8NE11
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: March 29, 2004
Last modified: August 12, 2020
This is version 170 of the entry and version 3 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

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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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