Human Gene BBS1 (ENST00000318312.12) from GENCODE V44
Description: Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA. (from RefSeq NM_024649) RefSeq Summary (NM_024649): Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000318312.12 Gencode Gene: ENSG00000174483.20 Transcript (Including UTRs) Position: hg38 chr11:66,510,635-66,533,598 Size: 22,964 Total Exon Count: 17 Strand: + Coding Region Position: hg38 chr11:66,510,660-66,532,037 Size: 21,378 Coding Exon Count: 17
ID:BBS1_HUMAN DESCRIPTION: RecName: Full=Bardet-Biedl syndrome 1 protein; AltName: Full=BBS2-like protein 2; FUNCTION: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. SUBUNIT: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B. INTERACTION: P05062:ALDOB; NbExp=4; IntAct=EBI-1805484, EBI-1045507; Q9H0F7:ARL6; NbExp=4; IntAct=EBI-1805484, EBI-2891949; Q9BXC9:BBS2; NbExp=6; IntAct=EBI-1805484, EBI-748297; Q96RK4:BBS4; NbExp=5; IntAct=EBI-1805484, EBI-1805814; Q8IWZ6:BBS7; NbExp=6; IntAct=EBI-1805484, EBI-1806001; Q3SYG4:BBS9; NbExp=6; IntAct=EBI-1805484, EBI-2826852; P68104:EEF1A1; NbExp=3; IntAct=EBI-1805484, EBI-352162; P48356-1:Lepr (xeno); NbExp=3; IntAct=EBI-1805484, EBI-6143588; Q15154:PCM1; NbExp=2; IntAct=EBI-1805484, EBI-741421; Q96QF0-1:RAB3IP; NbExp=2; IntAct=EBI-1805484, EBI-747860; SUBCELLULAR LOCATION: Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm. TISSUE SPECIFICITY: Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas. DISEASE: Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS1, influence the clinical outcome. DISEASE: Defects in BBS1 are a cause of Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance). WEB RESOURCE: Name=Mutations of the BBS1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/bbs1mut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS1";
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 Q8NFJ9
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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.