Summary: Ciliary basal body-associated, B9 protein
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Ciliary basal body-associated, B9 protein Provide feedback
The B9-C2 domain is found in proteins associated with the ciliary basal body. B9 domains were identified as a specific family of C2 domains . There are three sub-families represented by this family, notably, Mks1-Xbx7, Stumpy-Tza1 and Tza2 groups of proteins. Mutations in human Mks1 result in the developmental disorder Mechler-Gruber syndrome ; mutations in mouse Stumpy lead to perinatal hydrocephalus and severe polycystic kidney disease . All the three distinct types of B9-C2 proteins cooperatively localise to the basal body or centrosome of cilia.
Zhang D, Aravind L;, Gene. 2010;469:18-30.: Identification of novel families and classification of the C2 domain superfamily elucidate the origin and evolution of membrane targeting activities in eukaryotes. PUBMED:20713135 EPMC:20713135
Kyttala M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestila M;, Nat Genet. 2006;38:155-157.: MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. PUBMED:16415886 EPMC:16415886
Town T, Breunig JJ, Sarkisian MR, Spilianakis C, Ayoub AE, Liu X, Ferrandino AF, Gallagher AR, Li MO, Rakic P, Flavell RA;, Proc Natl Acad Sci U S A. 2008;105:2853-2858.: The stumpy gene is required for mammalian ciliogenesis. PUBMED:18287022 EPMC:18287022
External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR010796
B9 domain containing proteins are found in flagellar or cilia-containing species. Although its function is unknown, a cilia-specific role has been suggested for the poorly characterised B9 domain [PUBMED:16415886, PUBMED:17127412, PUBMED:18337471]. Some proteins known to contain a B9 domain are listed below:
- Mammalian Meckel syndrome 1 (MKS1) protein, which may be related to the ciliary basal body.
- Mammalian protein B9D1 and B9D2.
- Caenorhabditis elegans X-box promoter element regulated protein 7 (xbx-7). It corresponds to mammalian MKS1.
- Caenorhabditis elegans ciliary transition zone associate protein 1 (tza-1). It corresponds to mammalian B9D2.
- Caenorhabditis elegans ciliary transition zone associate protein 2 (tza-2). It corresponds to mammalian B9D1.
- Paramecium tetraurelia ICIS-1 (Involved in Cilia Stability-1), the B9D2 homolog.
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Curation and family details
|Seed source:||Pfam-B_12595 (release 10.0)|
|Author:||Vella Briffa B, Coggill P|
|Number in seed:||45|
|Number in full:||444|
|Average length of the domain:||153.90 aa|
|Average identity of full alignment:||27 %|
|Average coverage of the sequence by the domain:||49.58 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||6|
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