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Q9BXS0 Proteins Collagen-like domain Repeats
Uniprot ID:Q9BXS0
Protein name: Collagen alpha-1
Gene : COL25A1
Protein Family:
Squence Length : 654
Sequnce
>Q9BXS0 655 MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSIHLLPDTLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREAPSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGDQGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKGFRGVKGEKGEPGQPGLDGLDAPCQLGPDGLPMPGCWQK
Domains
DOMAIN 121 164 Collagen-like 1 DOMAIN 192 247 Collagen-like 2 DOMAIN 249 308 Collagen-like 3 DOMAIN 311 370 Collagen-like 4 DOMAIN 372 425 Collagen-like 5 DOMAIN 447 505 Collagen-like 6 DOMAIN 571 630 Collagen-like 7
Collagen-like sequence regions
121 - 164 GPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGDQGPRMV 192 - 247 AGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQKGSIG 249 - 308 PGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAA 311 - 370 KGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGR 372 - 425 ERGEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQKGDQGATE 447 - 505 GPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDPGMTGEKGGIGLPGLPGA 571 - 630 KGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKGFRGVKGEKGEPGQPGL
Function
Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin
Mutation
109 109 R->A: Not secreted 112 112 R->A: Not secreted 181 188 LIKRRLIK->VIKRRTFQ: Reduces binding to amyloid-beta peptide 181 188 Missing: Abolishes binding to amyloid-beta peptide
Disease
"DISEASE: Fibrosis of extraocular muscles, congenital, 5 (CFEOM5) [MIM:616219]: An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head Note=The disease is caused by mutations affecting the gene represented in this entry"