Human Gene BBS9 (ENST00000350941.7) from GENCODE V44
Description: Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 1, mRNA. (from RefSeq NM_014451) RefSeq Summary (NM_014451): This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]. Gencode Transcript: ENST00000350941.7 Gencode Gene: ENSG00000122507.21 Transcript (Including UTRs) Position: hg38 chr7:33,129,540-33,606,068 Size: 476,529 Total Exon Count: 21 Strand: + Coding Region Position: hg38 chr7:33,146,253-33,605,226 Size: 458,974 Coding Exon Count: 20
ID:PTHB1_HUMAN DESCRIPTION: RecName: Full=Protein PTHB1; AltName: Full=Bardet-Biedl syndrome 9 protein; AltName: Full=Parathyroid hormone-responsive B1 gene protein; 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. INTERACTION: Q8NFJ9:BBS1; NbExp=6; IntAct=EBI-2826852, EBI-1805484; Q8TAM1:BBS10; NbExp=2; IntAct=EBI-2826852, EBI-6128013; Q6ZW61:BBS12; NbExp=2; IntAct=EBI-2826852, EBI-6128352; Q9BXC9:BBS2; NbExp=9; IntAct=EBI-2826852, EBI-748297; Q8N3I7:BBS5; NbExp=3; IntAct=EBI-2826852, EBI-2892592; Q9NQ48:LZTFL1; NbExp=6; IntAct=EBI-2826852, EBI-2824799; Q8TAM2:TTC8; NbExp=2; IntAct=EBI-2826852, EBI-2892638; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm. TISSUE SPECIFICITY: Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. INDUCTION: Down-regulated by parathyroid hormone. DISEASE: A chromosomal aberration involving PTHB1 is found in Wilms tumor 5 (WT5) [MIM:601583]. Translocation t(1;7)(q42;p15) with OBSCN. DISEASE: Defects in BBS9 are a cause of Bardet-Biedl syndrome type 9 (BBS9) [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. SEQUENCE CAUTION: Sequence=AAD25980.1; Type=Miscellaneous discrepancy; Note=Chimera; Sequence=AAD25981.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS9";
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 Q3SYG4
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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
