Description: Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA. RefSeq Summary (NM_024685): This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]. Transcript (Including UTRs) Position: hg19 chr12:76,738,266-76,742,222 Size: 3,957 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr12:76,739,593-76,742,138 Size: 2,546 Coding Exon Count: 2
ID:BBS10_HUMAN DESCRIPTION: RecName: Full=Bardet-Biedl syndrome 10 protein; FUNCTION: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. SUBUNIT: Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. INTERACTION: Q6ZW61:BBS12; NbExp=5; IntAct=EBI-6128013, EBI-6128352; Q8IWZ6:BBS7; NbExp=4; IntAct=EBI-6128013, EBI-1806001; Q3SYG4:BBS9; NbExp=2; IntAct=EBI-6128013, EBI-2826852; SUBCELLULAR LOCATION: Cell projection, cilium. Note=Located within the basal body of the primary cilium of differentiating preadipocytes. DISEASE: Defects in BBS10 are the cause of Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. MISCELLANEOUS: Adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS. SIMILARITY: Belongs to the TCP-1 chaperonin family. SEQUENCE CAUTION: Sequence=AAH13795.1; Type=Erroneous initiation; Sequence=BAB15695.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS10";
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 Q8TAM1
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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.
US Server
