BBIP1 - BBSome interacting protein 1 Gene

Homo sapiens (human)

Also known as BBS18; BBIP10; bA348N5.3; NCRNA00081

Gene ID: 92482 | Gene type: protein coding

About BBIP1

Summary

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

BBIP1 Products(1)

mRNA	Protein	Name
NM_001195305.3	NP_001182234.1	BBSome-interacting protein 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19081074	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	19081074	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of BBSome	IDA IDA: Inferred from direct assay	19081074	GOA
part of BBSome	IPI IPI: Inferred from physical interaction	19081074	GOA
located in ciliary membrane	IDA IDA: Inferred from direct assay	19081074	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	19081074	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

BBSome-interacting protein 1

BBSome-interacting protein of 10 kDa

UPF0604 protein

BBIP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	BBIP1	A8MTZ0	BBS4	Homo sapiens	Q96RK4	Y2H	29039417
Intra	BBIP1	A8MTZ0	BBS4	Homo sapiens	Q96RK4	Anti Tag CoIP	22500027
Intra	BBIP1	A8MTZ0	BBS4	Homo sapiens	Q96RK4	Lumier	29039417
Intra	BBIP1	A8MTZ0	BBS4	Homo sapiens	Q96RK4	Density Sedimentation	19081074

Cross: Cross-species interaction Intra: Intraspecies interaction

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