Version 5.4
Homo sapiens Protein: B9D1
Summary
InnateDB Protein IDBP-34610.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B9D1
Protein Name B9 protein domain 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000268841
InnateDB Gene IDBG-34606 (B9D1)
Protein Structure
UniProt Annotation
Function Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269PubMed:19208769}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269PubMed:19208769}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.
Disease Associations Meckel syndrome 9 (MKS9) [MIM:614209]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269PubMed:21493627}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008158 hedgehog receptor activity
Biological Process
GO:0007224 smoothened signaling pathway
GO:0042384 cilium assembly
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0035869 ciliary transition zone
GO:0036038 TCTN-B9D complex
GO:0036064 ciliary basal body
Protein Structure and Domains
PDB ID
InterPro IPR010796 B9 domain
PFAM PF07162
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UPM9
PhosphoSite PhosphoSite-Q9UPM9
TrEMBL
UniProt Splice Variant
Entrez Gene 27077
UniGene
RefSeq XP_005256666
HUGO HGNC:24123
OMIM 614144
CCDS
HPRD 16866
IMGT
EMBL AB030506 BC002944
GenPept AAH02944 BAA82655

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca