• Gene id: 27241

Gene Summary

• Gene Symbol: BBS9   Gene   UCSC   Ensembl
• Aliases: B1, C18, D1, PTHB1
• Gene name: Bardet-Biedl syndrome 9
• Alternate names: protein PTHB1, PTH-responsive osteosarcoma B1 protein, bardet-Biedl syndrome 9 protein, parathyroid hormone-responsive B1 gene protein,
• Gene location: 7p14.3 (33129243: 33637237)     Exons: 30     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 607968

Protein Summary

• Protein general information: Q3SYG4  
  • Name: Protein PTHB1 (Bardet Biedl syndrome 9 protein) (Parathyroid hormone responsive B1 gene protein)
  • Length: 887  
  • Mass: 99280
  • Tissue specificity: Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. {ECO
• Sequence:

  MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKIIVGSFMGYLRIFSPHPAKTGDGAQAEDLLLEVDLR
  DPVLQVEVGKFVSGTEMLHLAVLHSRKLCVYSVSGTLGNVEHGNQCQMKLMYEHNLQRTACNMTYGSFGGVKGRD
  LICIQSMDGMLMVFEQESYAFGRFLPGFLLPGPLAYSSRTDSFLTVSSCQQVESYKYQVLAFATDADKRQETEQQ
  KLGSGKRLVVDWTLNIGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFMKKLDWSPSCFLPYCSVSEGT
  INTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLHDLKGVIVTLSDDGHLQCSYLGTDPSLFQAPNVQSRE
  LNYDELDVEMKELQKIIKDVNKSQGVWPMTEREDDLNVSVVVSPNFDSVSQATDVEVGTDLVPSVTVKVTLQNRV
  ILQKAKLSVYVQPPLELTCDQFTFEFMTPDLTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDRNPDGIPRVIQC
  KFRLPLKLICLPGQPSKTASHKITIDTNKSPVSLLSLFPGFASQSDDDQVNVMGFHFLGGARITVLASKTSQRYR
  IQSEQFEDLWLITNELILRLQEYFEKQGVKDFACSFSGSIPLQEYFELIDHHFELRINGEKLEELLSERAVQFRA
  IQRRLLARFKDKTPAPLQHLDTLLDGTYKQVIALADAVEENQGNLFQSFTRLKSATHLVILLIALWQKLSADQVA
  ILEAAFLPLQEDTQELGWEETVDAAISHLLKTCLSKSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLSKGGRL
  CLSTDAAAPQTMVMPGGCTTIPESDLEERSVEQDSTELFTNHRHLTAETPRPEVSPLQGVSE

• Structural information:
  • Interpro: IPR028074  IPR028073  IPR026511  
  • PDB: 4YD8
  • PDBsum: 4YD8
  • DIP: 60358
  • STRING: ENSP00000242067
• Other Databases: GeneCards:  BBS9  Malacards:  BBS9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0034464	BBSome	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0005929	cilium	IBA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0034464	BBSome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000242	pericentriolar material	IDA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045444	fat cell differentiation	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0034464	BBSome	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0034464	BBSome	IDA	cellular component
GO:0045444	fat cell differentiation	ISS	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0061512	protein localization to cilium	IMP	biological process

Diseases

Associated diseases	References
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	PMID:16380913
Craniosynostosis	PMID:23160099
premature ovarian failure	PMID:18349106
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq