• Gene id: 92482

Gene Summary

• Gene Symbol: BBIP1   Gene   UCSC   Ensembl
• Aliases: BBIP10, BBS18, NCRNA00081, bA348N5.3
• Gene name: BBSome interacting protein 1
• Alternate names: BBSome-interacting protein 1, BBSome-interacting protein of 10 kDa, UPF0604 protein,
• Gene location: 10q25.2 (110919179: 110898729)     Exons: 6     NC_000010.11
• Gene summary(Entrez): This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Altern
• OMIM: 613605

Protein Summary

• Protein general information: A8MTZ0  
  • Name: BBSome interacting protein 1 (BBSome interacting protein of 10 kDa)
  • Length: 92  
  • Mass: 10506
• Sequence:

  MLKAAAKRPELSGKNTISNNSDMAEVKSMFREVLPKQGPLFVEDIMTMVLCKPKLLPLKSLTLEKLEKMHQAAQN
  TIRQQEMAEKDQRQITH

• Structural information:
  • Interpro: IPR028233  
• Other Databases: GeneCards:  BBIP1  Malacards:  BBIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034464	BBSome	IBA	cellular component
GO:0097500	receptor localization to non-motile cilium	IBA	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060271	cilium assembly	IEA	biological process
GO:0034464	BBSome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
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:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0034464	BBSome	IDA	cellular component

Diseases

Associated diseases	References
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	KEGG:H00418
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)