ID:WDR35_HUMAN DESCRIPTION: RecName: Full=WD repeat-containing protein 35; AltName: Full=Intraflagellar transport protein 121 homolog; FUNCTION: May promote CASP3 activation and TNF-stimulated apoptosis. Required for ciliogenesis. SUBUNIT: Interacts with IFT43. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome (By similarity). Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Cytoplasm, cytoskeleton, cilium basal body (By similarity). INDUCTION: By TNF. DISEASE: Defects in WDR35 are the cause of cranioectodermal dysplasia type 2 (CED2) [MIM:613610]. 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 included widely spaced, hypoplastic and fused teeth. DISEASE: Defects in WDR35 are the cause of short rib-polydactyly syndrome type 5 (SRPS5) [MIM:614091]. A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. Additional SRPS5 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys. Note=WDR35 mutations cause short rib-polydactyly syndrome through impaired cilia formation. Primary fibroblasts from SRPS5 patients lacking WDR35 fail to produce cilia (PubMed:21473986). SIMILARITY: Contains 5 WD repeats. SEQUENCE CAUTION: Sequence=BAA92574.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9P2L0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0009636 response to toxic substance GO:0010629 negative regulation of gene expression GO:0030030 cell projection organization GO:0032496 response to lipopolysaccharide GO:0035721 intraciliary retrograde transport GO:0035735 intraciliary transport involved in cilium assembly GO:0043065 positive regulation of apoptotic process GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0045019 negative regulation of nitric oxide biosynthetic process GO:0060271 cilium assembly GO:0061512 protein localization to cilium GO:0071333 cellular response to glucose stimulus GO:0071356 cellular response to tumor necrosis factor GO:0090200 positive regulation of release of cytochrome c from mitochondria GO:0097421 liver regeneration GO:1901555 response to paclitaxel GO:1905705 cellular response to paclitaxel GO:1990830 cellular response to leukemia inhibitory factor
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
