BBS9

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.^[4][5]

AliasesBBS9, B1, C18, D1, PTHB1, Bardet-Biedl syndrome 9

External IDsOMIM: 607968; MGI: 2442833; GeneCards: BBS9

PDBOrtholog search: PDBe RCSB

Chr.Chromosome 9 (mouse)^[1]

Quick facts Identifiers, Aliases ...

BBS9
Identifiers
Aliases	BBS9, B1, C18, D1, PTHB1, Bardet-Biedl syndrome 9
External IDs	OMIM: 607968; MGI: 2442833; GeneCards: BBS9
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4YD8
Gene location (Mouse) Chr. Chromosome 9 (mouse)[1] Band 9|9 A3 Start 22,387,011 bp[1] End 22,799,576 bp[1]
Gene ontology Molecular function protein binding molecular function Cellular component cytoplasm cytosol cell projection BBSome pericentriolar material membrane plasma membrane cilium centriolar satellite ciliary transition zone microtubule organizing center ciliary membrane cytoskeleton Biological process response to stimulus cell projection organization protein localization to cilium protein transport fat cell differentiation visual perception cilium assembly Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 27241 319845 Ensembl ENSG00000122507 ENSMUSG00000035919 UniProt Q3SYG4 Q811G0 RefSeq (mRNA) NM_001033604 NM_001033605 NM_014451 NM_198428 NM_178415 NM_181316 NM_001360258 NM_001360259 RefSeq (protein) NP_001028776 NP_001028777 NP_055266 NP_940820 NP_001334965 NP_001334966 NP_001334967 NP_001334968 NP_001334969 NP_001334970 NP_001334971 NP_001334972 NP_001334973 NP_001334974 NP_001334975 NP_001349608 NP_848502 NP_851833 NP_001347187 NP_001347188 Location (UCSC) n/a Chr 9: 22.39 – 22.8 Mb PubMed search [2] [3]
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The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones.^[6]

Mutations in this gene are associated with the Bardet–Biedl syndrome.^[5]