Q9P2L0 · WDR35_HUMAN
- ProteinWD repeat-containing protein 35
- GeneWDR35
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1181 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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
May promote CASP3 activation and TNF-stimulated apoptosis
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | axoneme | |
Cellular Component | centrosome | |
Cellular Component | ciliary basal body | |
Cellular Component | ciliary tip | |
Cellular Component | cilium | |
Cellular Component | intraciliary transport particle A | |
Biological Process | cellular response to leukemia inhibitory factor | |
Biological Process | cilium assembly | |
Biological Process | intraciliary retrograde transport | |
Biological Process | intraciliary transport | |
Biological Process | protein localization to cilium |
Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameWD repeat-containing protein 35
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9P2L0
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Cranioectodermal dysplasia 2 (CED2)
- Note
- 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.
- See alsoMIM:613610
Natural variants in CED2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_064581 | 626 | E>G | in CED2; dbSNP:rs267607174 | |
VAR_064582 | 875 | A>T | in CED2; dbSNP:rs267607175 |
Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7)
- Note
- 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.
- See alsoMIM:614091
Natural variants in SRTD7
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_065955 | 261 | W>R | in SRTD7; dbSNP:rs431905505 | |
VAR_076784 | 311 | W>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; dbSNP:rs200649783 | |
VAR_080632 | 478 | R>K | in SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis; dbSNP:rs1558342399 | |
VAR_080633 | 527-1181 | missing | in 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
- 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.
- See alsoMIM:614091
Natural variants in SRTD7/20
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_076784 | 311 | W>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; dbSNP:rs200649783 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_053428 | 18 | in dbSNP:rs1060742 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_065955 | 261 | in SRTD7; dbSNP:rs431905505 | |||
Sequence: W → R | ||||||
Natural variant | VAR_076784 | 311 | 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; dbSNP:rs200649783 | |||
Sequence: W → L | ||||||
Natural variant | VAR_080632 | 478 | in SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis; dbSNP:rs1558342399 | |||
Sequence: R → K | ||||||
Natural variant | VAR_080633 | 527-1181 | in SRTD7; chondrocyte cell lines from the patient show a reduction of cilia indicating a defect in ciliogenesis | |||
Sequence: Missing | ||||||
Natural variant | VAR_064581 | 626 | in CED2; dbSNP:rs267607174 | |||
Sequence: E → G | ||||||
Natural variant | VAR_064582 | 875 | in CED2; dbSNP:rs267607175 | |||
Sequence: A → T | ||||||
Natural variant | VAR_062102 | 878 | in dbSNP:rs2293669 | |||
Sequence: A → P | ||||||
Natural variant | VAR_062103 | 878 | in dbSNP:rs2293669 | |||
Sequence: A → T | ||||||
Natural variant | VAR_053429 | 983 | in dbSNP:rs1191778 | |||
Sequence: E → G |
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.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000051384 | 1-1181 | WD repeat-containing protein 35 | |||
Sequence: MFFYLSKKISIPNNVKLQCVSWNKEQGFIACGGEDGLLKVLKLETQTDDAKLRGLAAPSNLSMNQTLEGHSGSVQVVTWNEQYQKLTTSDENGLIIVWMLYKGSWIEEMINNRNKSVVRSMSWNADGQKICIVYEDGAVIVGSVDGNRIWGKDLKGIQLSHVTWSADSKVLLFGMANGEIHIYDNQGNFMIKMKLSCLVNVTGAISIAGIHWYHGTEGYVEPDCPCLAVCFDNGRCQIMRHENDQNPVLIDTGMYVVGIQWNHMGSVLAVAGFQKAAMQDKDVNIVQFYTPFGEHLGTLKVPGKEISALSWEGGGLKIALAVDSFIYFANIRPNYKWGYCSNTVVYAYTRPDRPEYCVVFWDTKNNEKYVKYVKGLISITTCGDFCILATKADENHPQEENEMETFGATFVLVLCNSIGTPLDPKYIDIVPLFVAMTKTHVIAASKEAFYTWQYRVAKKLTALEINQITRSRKEGRERIYHVDDTPSGSMDGVLDYSKTIQGTRDPICAITASDKILIVGRESGTIQRYSLPNVGLIQKYSLNCRAYQLSLNCNSSRLAIIDISGVLTFFDLDARVTDSTGQQVVGELLKLERRDVWDMKWAKDNPDLFAMMEKTRMYVFRNLDPEEPIQTSGYICNFEDLEIKSVLLDEILKDPEHPNKDYLINFEIRSLRDSRALIEKVGIKDASQFIEDNPHPRLWRLLAEAALQKLDLYTAEQAFVRCKDYQGIKFVKRLGKLLSESMKQAEVVGYFGRFEEAERTYLEMDRRDLAIGLRLKLGDWFRVLQLLKTGSGDADDSLLEQANNAIGDYFADRQKWLNAVQYYVQGRNQERLAECYYMLEDYEGLENLAISLPENHKLLPEIAQMFVRVGMCEQAVTAFLKCSQPKAAVDTCVHLNQWNKAVELAKNHSMKEIGSLLARYASHLLEKNKTLDAIELYRKANYFFDAAKLMFKIADEEAKKGSKPLRVKKLYVLSALLIEQYHEQMKNAQRGKVKGKSSEATSALAGLLEEEVLSTTDRFTDNAWRGAEAYHFFILAQRQLYEGCVDTALKTALHLKDYEDIIPPVEIYSLLALCACASRAFGTCSKAFIKLKSLETLSSEQKQQYEDLALEIFTKHTSKDNRKPELDSLMEGGEGKLPTCVATGSPITEYQFWMCSVCKHGVLAQEISHYSFCPLCHSPVG |
Proteomic databases
PTM databases
Expression
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).
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
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9P2L0 | IFT43 Q96FT9 | 4 | EBI-766448, EBI-10189681 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 4-43 | WD 1 | ||||
Sequence: YLSKKISIPNNVKLQCVSWNKEQGFIACGGEDGLLKVLKL | ||||||
Repeat | 61-100 | WD 2 | ||||
Sequence: LSMNQTLEGHSGSVQVVTWNEQYQKLTTSDENGLIIVWML | ||||||
Repeat | 105-143 | WD 3 | ||||
Sequence: WIEEMINNRNKSVVRSMSWNADGQKICIVYEDGAVIVGS | ||||||
Repeat | 147-185 | WD 4 | ||||
Sequence: NRIWGKDLKGIQLSHVTWSADSKVLLFGMANGEIHIYDN | ||||||
Repeat | 193-241 | WD 5 | ||||
Sequence: MKLSCLVNVTGAISIAGIHWYHGTEGYVEPDCPCLAVCFDNGRCQIMRH | ||||||
Repeat | 246-288 | WD 6 | ||||
Sequence: NPVLIDTGMYVVGIQWNHMGSVLAVAGFQKAAMQDKDVNIVQF |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
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.
- Name1
- Length1,181
- Mass (Da)133,547
- Last updated2004-03-29 v3
- Checksum1C0FFAAD0287F129
Q9P2L0-2
- Name2
- Differences from canonical
- 399-409: Missing
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_009732 | 399-409 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 1078 | in Ref. 6; AAH36659 | ||||
Sequence: S → G | ||||||
Sequence conflict | 1171 | in Ref. 3; BAG53797 | ||||
Sequence: S → G |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
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 |