• Gene id: 129880

Gene Summary

• Gene Symbol: BBS5   Gene   UCSC   Ensembl
• Gene name: Bardet-Biedl syndrome 5
• Alternate names: Bardet-Biedl syndrome 5 protein,
• Gene location: 2q31.1 (169479493: 169506654)     Exons: 12     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryot
• OMIM: 603650

Protein Summary

• Protein general information: Q8N3I7  
  • Name: Bardet Biedl syndrome 5 protein
  • Length: 341  
  • Mass: 38755
• Sequence:

  MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWHSLALSRVNVSVGYNC
  ILNITTRTANSKLRGQTEALYILTKCNSTRFEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDFKLRSALIQNK
  QLRLLPQEHVYDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIKIRDSKFGLALVIESS
  QQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFV
  AYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQGLWEVMS

• Structural information:
  • Interpro: IPR006606  IPR030804  IPR014003  
  • DIP: 60357
  • STRING: ENSP00000295240
• Other Databases: GeneCards:  BBS5  Malacards:  BBS5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0036064	ciliary basal body	IBA	cellular component
GO:0046907	intracellular transport	IBA	biological process
GO:0060271	cilium assembly	IBA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0034464	BBSome	IBA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034464	BBSome	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0034464	BBSome	IDA	cellular component
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
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:0005622	intracellular	IDA	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:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0034464	BBSome	IDA	cellular component
GO:0001947	heart looping	ISS	biological process
GO:0032402	melanosome transport	ISS	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0044458	motile cilium assembly	ISS	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	PMID:15137946
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq