Version 5.4
Homo sapiens Gene: B9D1
Summary
InnateDB Gene IDBG-34606.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B9D1
Gene Name B9 protein domain 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000108641
Encoded Proteins
IDBP-34608
B9 protein domain 1
IDBP-34610
B9 protein domain 1
IDBP-239202
B9 protein domain 1
IDBP-239204
B9 protein domain 1
IDBP-372353
B9 protein domain 1
IDBP-583146
B9 protein domain 1
IDBP-763081
IDBP-762287
IDBP-758947
IDBP-762232
IDBP-763733
IDBP-762076
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:19337554-19378182
Strand Reverse strand
Band p11.2
Transcripts
ENST00000261499 ENSP00000261499
ENST00000268841 ENSP00000268841
ENST00000395616 ENSP00000378978
ENST00000395615 ENSP00000378977
ENST00000440841 ENSP00000410835
ENST00000461069 ENSP00000433359
ENST00000477478 ENSP00000460939
ENST00000477683
ENST00000487415 ENSP00000463255
ENST00000468679
ENST00000476298
ENST00000575403 ENSP00000459857
ENST00000574508 ENSP00000462565
ENST00000575478 ENSP00000458525
ENST00000582857 ENSP00000463165
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:0005515 protein binding
GO:0008158 hedgehog receptor activity
Biological Process
GO:0001701 in utero embryonic development
GO:0001944 vasculature development
GO:0007224 smoothened signaling pathway
GO:0032880 regulation of protein localization
GO:0042384 cilium assembly
GO:0042733 embryonic digit morphogenesis
GO:0043010 camera-type eye development
GO:0060271 cilium morphogenesis
GO:0060563 neuroepithelial cell differentiation
Cellular Component
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0016020 membrane
GO:0035869 ciliary transition zone
GO:0036038 TCTN-B9D complex
GO:0036064 ciliary basal body
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL I3L126 I3L435 J3KSN2
UniProt Splice Variant
Entrez Gene 27077
UniGene
RefSeq NM_001243473 NM_001243475 NM_015681 XM_005256605 XM_005256607 XM_005256609 XM_005256610
HUGO HGNC:24123
OMIM 614144
CCDS CCDS11205 CCDS58528
HPRD 16866
IMGT
EMBL AC124066
GenPept
RNA Seq Atlas 27077

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