Summary: Fragile site-associated protein C-terminus
Fragile site-associated protein C-terminus Provide feedback
This is the conserved C-terminal half of the protein KIAA1109 which is the fragile site-associated protein FSA . Genome-wide-association studies showed this protein to linked to the susceptibility to coeliac disease . The protein may also be associated with polycystic kidney disease .
Wei Y, Lin-Lee YC, Yang X, Dai W, Zhao S, Rassool FV, Elgart GW, Feun L, Savaraj N, Kuo MT; , Gene. 2006;372:44-52.: Molecular cloning of Chinese hamster 1q31 chromosomal fragile site DNA that is important to mdr1 gene amplification reveals a novel gene whose expression is associated with spermatocyte and adipocyte differentiation. PUBMED:16545529 EPMC:16545529
van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, Wapenaar MC, Barnardo MC, Bethel G, Holmes GK, Feighery C, Jewell D, Kelleher D, Kumar P, Travis S, Walters JR, Sanders DS, Howdle P, Swift J, Playford RJ, McLaren WM, Mearin ML, Mulder C, Nat Genet. 2007;39:827-829.: A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. PUBMED:17558408 EPMC:17558408
He QY, Liu XH, Li Q, Studholme DJ, Li XW, Liang SP; , Bioinformatics. 2006;22:2189-2191.: G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss. PUBMED:16632497 EPMC:16632497
External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR018863
This is the conserved C-terminal half of the protein KIAA1109, which is the fragile site-associated protein FSA [PUBMED:16545529]. Genome-wide-association studies showed this protein to linked to the susceptibility to coeliac disease [PUBMED:17558408]. The protein may also be associated with polycystic kidney disease [PUBMED:16632497].
- the number of sequences which exhibit this architecture
a textual description of the architecture, e.g. Gla, EGF x 2, Trypsin.
This example describes an architecture with one
Gladomain, followed by two consecutive
EGFdomains, and finally a single
- the UniProt description of the protein sequence
- the number of residues in the sequence
- the Pfam graphic itself.
Loading domain graphics...
We make a range of alignments for each Pfam-A family:
- the curated alignment from which the HMM for the family is built
- the alignment generated by searching the sequence database using the HMM
- Representative Proteomes (RPs) at 15%, 35%, 55% and 75% co-membership thresholds
- alignment generated by searching the NCBI sequence database using the family HMM
- alignment generated by searching the metagenomics sequence database using the family HMM
You can see the alignments as HTML or in three different sequence viewers:
- Pfam viewer
- an HTML-based viewer that uses DAS to retrieve alignment fragments on request
1Cannot generate PP/Heatmap alignments for seeds; no PP data available
Key: available, not generated, — not available.
Format an alignment
If you find these logos useful in your own work, please consider citing the following article:
Note: You can also download the data file for the tree.
Curation and family details
|Author:||Buljan M, Coggill P|
|Number in seed:||3|
|Number in full:||345|
|Average length of the domain:||309.60 aa|
|Average identity of full alignment:||29 %|
|Average coverage of the sequence by the domain:||17.82 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 80369284 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||5|
|Download:||download the raw HMM for this family|
Weight segments by...
Change the size of the sunburst
selected sequences to HMM
a FASTA-format file
- 0 sequences
- 0 species
How the sunburst is generated
Colouring and labels
Anomalies in the taxonomy tree
Missing taxonomic levels
Unmapped species names
Too many species/sequences
The tree shows the occurrence of this domain across different species. More...
You can use the tree controls to manipulate how the interactive tree is displayed:
- show/hide the summary boxes
- highlight species that are represented in the seed alignment
- expand/collapse the tree or expand it to a given depth
- select a sub-tree or a set of species within the tree and view them graphically or as an alignment
- save a plain text representation of the tree