InnateDB Protein
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IDBP-34608.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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B9D1
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Protein Name
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B9 protein domain 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000261499
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InnateDB Gene
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IDBG-34606 (B9D1)
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Protein Structure
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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}.
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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}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR010796
B9 domain
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PFAM |
PF07162
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UPM9
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PhosphoSite |
PhosphoSite-Q9UPM9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
27077
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UniGene |
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RefSeq |
NP_056496
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HUGO |
HGNC:24123
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OMIM |
614144
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CCDS |
CCDS11205
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HPRD |
16866
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IMGT |
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EMBL |
AB030506
BC002944
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GenPept |
AAH02944
BAA82655
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