Summary: Ciliary basal body-associated, B9 protein
Pfam includes annotations and additional family information from a range of different sources. These sources can be accessed via the tabs below.
The Pfam group coordinates the annotation of Pfam families in Wikipedia, but we have not yet assigned a Wikipedia article to this family. If you think that a particular Wikipedia article provides good annotation, please let us know.
This tab holds the annotation information that is stored in the Pfam database. As we move to using Wikipedia as our main source of annotation, the contents of this tab will be gradually replaced by the Wikipedia tab.
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 [1]. 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 [2]; mutations in mouse Stumpy lead to perinatal hydrocephalus and severe polycystic kidney disease [3]. All the three distinct types of B9-C2 proteins cooperatively localise to the basal body or centrosome of cilia.
Literature references
-
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
This tab holds annotation information from the InterPro database.
InterPro entry IPR010796
The C2 domain is one of the most prevalent eukaryotic lipid-binding domains deployed in diverse functional contexts. Distinct versions of the C2 domain have been recognized, the classical C2, the PI3K-type, the tensin-type, the B9-type, the DOCK-type, the NT-type and the Aida-type. Despite their limited sequence similarity, all C2 domains contain at their core a compact beta-sandwich composed of two four-stranded beta-sheets with highly variable inter-strand regions that might contain one or more alpha-helices. One feature that is highly conserved in the C2 domains is the pair of hydrophobic residues on the upper part of the beta-sheet, which are involved in imparting a curvature of the sheet that allows formation of a concave ligand-binding area [ PUBMED:20713135 ].
This entry represents the B9-type C2 domain containing proteins, found in ciliary basal body associated proteins. Although its function is unknown, a cilia-specific role has been suggested for the poorly characterised B9-type C2 domain [ PUBMED:16415886 , PUBMED:17127412 , PUBMED:18337471 ].
Some proteins known to contain a B9-type C2 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 homologue.
Domain organisation
Below is a listing of the unique domain organisations or architectures in which this domain is found. More...
Loading domain graphics...
Pfam Clan
This family is a member of clan C2 (CL0154), which has the following description:
This superfamily includes C2 domains and C2-like domains.
The clan contains the following 18 members:
Aida_C2 Anillin B9-C2 C2 C2-C2_1 CC2D2AN-C2 CEP76-C2 DOCK-C2 IcmF_C MNNL NT-C2 PI3K_C2 PTEN_C2 pYEATS RPGR1_C SPATA6 Spond_N YEATSAlignments
We store a range of different sequence alignments for families. As well as the seed alignment from which the family is built, we provide the full alignment, generated by searching the sequence database (reference proteomes) using the family HMM. We also generate alignments using four representative proteomes (RP) sets and the UniProtKB sequence database. More...
View options
We make a range of alignments for each Pfam-A family. You can see a description of each above. You can view these alignments in various ways but please note that some types of alignment are never generated while others may not be available for all families, most commonly because the alignments are too large to handle.
Seed (122) |
Full (2113) |
Representative proteomes | UniProt (3626) |
||||
---|---|---|---|---|---|---|---|
RP15 (552) |
RP35 (949) |
RP55 (1663) |
RP75 (2154) |
||||
Jalview | |||||||
HTML | |||||||
PP/heatmap | 1 |
1Cannot generate PP/Heatmap alignments for seeds; no PP data available
Key:
available,
not generated,
— not available.
Format an alignment
Download options
We make all of our alignments available in Stockholm format. You can download them here as raw, plain text files or as gzip-compressed files.
Seed (122) |
Full (2113) |
Representative proteomes | UniProt (3626) |
||||
---|---|---|---|---|---|---|---|
RP15 (552) |
RP35 (949) |
RP55 (1663) |
RP75 (2154) |
||||
Raw Stockholm | |||||||
Gzipped |
You can also download a FASTA format file containing the full-length sequences for all sequences in the full alignment.
HMM logo
HMM logos is one way of visualising profile HMMs. Logos provide a quick overview of the properties of an HMM in a graphical form. You can see a more detailed description of HMM logos and find out how you can interpret them here. More...
Trees
This page displays the phylogenetic tree for this family's seed alignment. We use FastTree to calculate neighbour join trees with a local bootstrap based on 100 resamples (shown next to the tree nodes). FastTree calculates approximately-maximum-likelihood phylogenetic trees from our seed alignment.
Note: You can also download the data file for the tree.
Curation and family details
This section shows the detailed information about the Pfam family. You can see the definitions of many of the terms in this section in the glossary and a fuller explanation of the scoring system that we use in the scores section of the help pages.
Curation
Seed source: | Pfam-B_12595 (release 10.0) |
Previous IDs: | B9; |
Type: | Domain |
Sequence Ontology: | SO:0000417 |
Author: |
Vella Briffa B |
Number in seed: | 122 |
Number in full: | 2113 |
Average length of the domain: | 158.7 aa |
Average identity of full alignment: | 30 % |
Average coverage of the sequence by the domain: | 47.14 % |
HMM information
HMM build commands: |
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 61295632 -E 1000 --cpu 4 HMM pfamseq
|
||||||||||||
Model details: |
|
||||||||||||
Model length: | 168 | ||||||||||||
Family (HMM) version: | 14 | ||||||||||||
Download: | download the raw HMM for this family |
Species distribution
Sunburst controls
HideWeight segments by...
Change the size of the sunburst
Colour assignments
![]() |
![]() |
![]() |
![]() |
![]() |
![]() |
![]() |
![]() |
Selections
Generate a FASTA-format file
Clear selection
This visualisation provides a simple graphical representation of the distribution of this family across species. You can find the original interactive tree in the adjacent tab. More...
Tree controls
HideThe tree shows the occurrence of this domain across different species. More...
Loading...
Please note: for large trees this can take some time. While the tree is loading, you can safely switch away from this tab but if you browse away from the family page entirely, the tree will not be loaded.
AlphaFold Structure Predictions
The list of proteins below match this family and have AlphaFold predicted structures. Click on the protein accession to view the predicted structure.