COL25A1
entrez
84570
canonical
uniprot
Q9BXS0
canonical
ensembl
ENSG00000188517
resolver
ensp
ENSP00000382077
resolver
ensp
ENSP00000382078
resolver
ensp
ENSP00000382083
resolver
ensp
ENSP00000495847
resolver
enst
ENST00000399127
resolver
enst
ENST00000642955
resolver
genesymbol
COL25A1
resolver
hgnc
HGNC:18603
resolver
uniprot
A0A2R8Y760
resolver
uniprot
A8MPZ6
resolver
uniprot
A8MWQ5
resolver
uniprot
Q9BXR9
resolver
uniprot_entry
A0A2R8Y760_HUMAN
resolver
uniprot_entry
A8MWQ5_HUMAN
resolver
uniprot_entry
COPA1_HUMAN
resolver
uniprot_sec
A8MPZ6
resolver
uniprot_sec
Q9BXR9
resolver
amino_acid_sequence
MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSIHLLPDTLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREAPSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGDQGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKGFRGVKGEKGEPGQPGLDGLDAPCQLGPDGLPMPGCWQK
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:25500261}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:15522881, ECO:0000269|PubMed:15615705, ECO:0000269|PubMed:15853808, ECO:0000269|PubMed:16300410}.
uniprot
proteins
mass_dalton
64771
uniprot
proteins
mutagenesis
MUTAGEN 109; /note="R->A: Not secreted."; /evidence="ECO:0000269|PubMed:11927537"; MUTAGEN 112; /note="R->A: Not secreted."; /evidence="ECO:0000269|PubMed:11927537"; MUTAGEN 181..188; /note="LIKRRLIK->VIKRRTFQ: Reduces binding to amyloid-beta peptide."; /evidence="ECO:0000269|PubMed:15522881"; MUTAGEN 181..188; /note="Missing: Abolishes binding to amyloid-beta peptide."; /evidence="ECO:0000269|PubMed:15522881
uniprot
proteins
post_translational_modification
PTM: Undergoes proteolytic cleavage by furin protease to yield the soluble collagen-like Alzheimer amyloid plaque component. {ECO:0000269|PubMed:11927537}.; PTM: Glycosylated. {ECO:0000269|PubMed:15522881}.; PTM: Hydroxylated on 11% of proline residues and 49% of lysine residues. {ECO:0000269|PubMed:11927537, ECO:0000269|PubMed:15522881}.
uniprot
proteins
pubmed
11927537
uniprot
proteins
pubmed
14656069
uniprot
proteins
pubmed
15215182
uniprot
proteins
pubmed
15522881
uniprot
proteins
pubmed
15615705
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15853808
uniprot
proteins
pubmed
16300410
uniprot
proteins
pubmed
25500261
uniprot
proteins
sequence_length
654
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Note=After proteolytic cleavage, CLAC is secreted.
uniprot
proteins
transmembrane_region
TRANSMEM 34..54; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins