Q9P2L0 · WDR35_HUMAN

  • Protein
    WD repeat-containing protein 35
  • Gene
    WDR35
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

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

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentaxoneme
Cellular Componentcentrosome
Cellular Componentciliary basal body
Cellular Componentciliary tip
Cellular Componentcilium
Cellular Componentintraciliary transport particle A
Biological Processcellular response to leukemia inhibitory factor
Biological Processcilium assembly
Biological Processintraciliary retrograde transport
Biological Processintraciliary transport
Biological Processprotein localization to cilium

Keywords

Enzyme and pathway databases

Protein family/group databases

    • 1.X.1.1.1the intraflagellar transporter-a complex (ift-a) family

Names & Taxonomy

Protein names

  • Recommended name
    WD repeat-containing protein 35
  • Alternative names
    • Intraflagellar transport protein 121 homolog

Gene names

    • Name
      WDR35
    • Synonyms
      IFT121
      , KIAA1336

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q9P2L0
  • Secondary accessions
    • B3KVI5
    • Q4ZG01
    • Q8NE11

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Cranioectodermal dysplasia 2 (CED2)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A 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.
  • See also
    MIM:613610
Natural variants in CED2
Variant IDPosition(s)ChangeDescription
VAR_064581626E>Gin CED2; dbSNP:rs267607174
VAR_064582875A>Tin CED2; dbSNP:rs267607175

Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7)

  • Note
    • The disease is caused by variants 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)
  • Description
    A 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.
  • See also
    MIM:614091
Natural variants in SRTD7
Variant IDPosition(s)ChangeDescription
VAR_065955261W>Rin SRTD7; dbSNP:rs431905505
VAR_076784311W>Lin 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; dbSNP:rs200649783
VAR_080632478R>Kin SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis; dbSNP:rs1558342399
VAR_080633527-1181missingin SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis

Short-rib thoracic dysplasia 7/20 with polydactyly, digenic (SRTD7/20)

  • Note
    • The disease is caused by variants 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
  • Description
    A 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.
  • See also
    MIM:614091
Natural variants in SRTD7/20
Variant IDPosition(s)ChangeDescription
VAR_076784311W>Lin 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; dbSNP:rs200649783

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_05342818in dbSNP:rs1060742
Natural variantVAR_065955261in SRTD7; dbSNP:rs431905505
Natural variantVAR_076784311in 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; dbSNP:rs200649783
Natural variantVAR_080632478in SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis; dbSNP:rs1558342399
Natural variantVAR_080633527-1181in SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis
Natural variantVAR_064581626in CED2; dbSNP:rs267607174
Natural variantVAR_064582875in CED2; dbSNP:rs267607175
Natural variantVAR_062102878in dbSNP:rs2293669
Natural variantVAR_062103878in dbSNP:rs2293669
Natural variantVAR_053429983in dbSNP:rs1191778

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 1,300 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain.

TypeIDPosition(s)Description
ChainPRO_00000513841-1181WD repeat-containing protein 35

Proteomic databases

PTM databases

Expression

Induction

By TNF.

Gene expression databases

Organism-specific databases

Interaction

Subunit

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:27932497, PubMed:29220510).
Interacts with IFT43 (PubMed:19450523).
Interacts with CFAP61 (By similarity).

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY Q9P2L0IFT43 Q96FT94EBI-766448, EBI-10189681
View interactors in UniProtKB
View CPX-5021 in Complex Portal

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for repeat.

TypeIDPosition(s)Description
Repeat4-43WD 1
Repeat61-100WD 2
Repeat105-143WD 3
Repeat147-185WD 4
Repeat193-241WD 5
Repeat246-288WD 6

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

Q9P2L0-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    1,181
  • Mass (Da)
    133,547
  • Last updated
    2004-03-29 v3
  • Checksum
    1C0FFAAD0287F129
MFFYLSKKISIPNNVKLQCVSWNKEQGFIACGGEDGLLKVLKLETQTDDAKLRGLAAPSNLSMNQTLEGHSGSVQVVTWNEQYQKLTTSDENGLIIVWMLYKGSWIEEMINNRNKSVVRSMSWNADGQKICIVYEDGAVIVGSVDGNRIWGKDLKGIQLSHVTWSADSKVLLFGMANGEIHIYDNQGNFMIKMKLSCLVNVTGAISIAGIHWYHGTEGYVEPDCPCLAVCFDNGRCQIMRHENDQNPVLIDTGMYVVGIQWNHMGSVLAVAGFQKAAMQDKDVNIVQFYTPFGEHLGTLKVPGKEISALSWEGGGLKIALAVDSFIYFANIRPNYKWGYCSNTVVYAYTRPDRPEYCVVFWDTKNNEKYVKYVKGLISITTCGDFCILATKADENHPQEENEMETFGATFVLVLCNSIGTPLDPKYIDIVPLFVAMTKTHVIAASKEAFYTWQYRVAKKLTALEINQITRSRKEGRERIYHVDDTPSGSMDGVLDYSKTIQGTRDPICAITASDKILIVGRESGTIQRYSLPNVGLIQKYSLNCRAYQLSLNCNSSRLAIIDISGVLTFFDLDARVTDSTGQQVVGELLKLERRDVWDMKWAKDNPDLFAMMEKTRMYVFRNLDPEEPIQTSGYICNFEDLEIKSVLLDEILKDPEHPNKDYLINFEIRSLRDSRALIEKVGIKDASQFIEDNPHPRLWRLLAEAALQKLDLYTAEQAFVRCKDYQGIKFVKRLGKLLSESMKQAEVVGYFGRFEEAERTYLEMDRRDLAIGLRLKLGDWFRVLQLLKTGSGDADDSLLEQANNAIGDYFADRQKWLNAVQYYVQGRNQERLAECYYMLEDYEGLENLAISLPENHKLLPEIAQMFVRVGMCEQAVTAFLKCSQPKAAVDTCVHLNQWNKAVELAKNHSMKEIGSLLARYASHLLEKNKTLDAIELYRKANYFFDAAKLMFKIADEEAKKGSKPLRVKKLYVLSALLIEQYHEQMKNAQRGKVKGKSSEATSALAGLLEEEVLSTTDRFTDNAWRGAEAYHFFILAQRQLYEGCVDTALKTALHLKDYEDIIPPVEIYSLLALCACASRAFGTCSKAFIKLKSLETLSSEQKQQYEDLALEIFTKHTSKDNRKPELDSLMEGGEGKLPTCVATGSPITEYQFWMCSVCKHGVLAQEISHYSFCPLCHSPVG

Q9P2L0-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 3 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
F8WB94F8WB94_HUMANWDR35873
H0Y6C0H0Y6C0_HUMANWDR35406
H7BZK8H7BZK8_HUMANWDR35250

Sequence caution

The sequence BAA92574.2 differs from that shown. Reason: Erroneous initiation Extended N-terminus.

Features

Showing features for alternative sequence, sequence conflict.

TypeIDPosition(s)Description
Alternative sequenceVSP_009732399-409in isoform 2
Sequence conflict1078in Ref. 6; AAH36659
Sequence conflict1171in Ref. 3; BAG53797

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AB037757
EMBL· GenBank· DDBJ
BAA92574.2
EMBL· GenBank· DDBJ
mRNA Different initiation
AK122917
EMBL· GenBank· DDBJ
BAG53797.1
EMBL· GenBank· DDBJ
mRNA
AC079145
EMBL· GenBank· DDBJ
AAX88936.1
EMBL· GenBank· DDBJ
Genomic DNA
CH471053
EMBL· GenBank· DDBJ
EAX00841.1
EMBL· GenBank· DDBJ
Genomic DNA
BC036659
EMBL· GenBank· DDBJ
AAH36659.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

Any 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. Our staff consists of biologists and biochemists that are not trained to give medical advice.
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