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MGP005841

UniProt Annotations

Entry Information
Gene Namecollectin sub-family member 11
Protein EntryCOL11_HUMAN
UniProt IDQ9BWP8
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=10; Name=1; Synonyms=CL-K1-I; IsoId=Q9BWP8-1; Sequence=Displayed; Name=2; Synonyms=CL-K1-Ia; IsoId=Q9BWP8-2; Sequence=VSP_030468; Name=3; Synonyms=CL-K1-Ib; IsoId=Q9BWP8-3; Sequence=VSP_030470; Name=4; Synonyms=CL-K1-II; IsoId=Q9BWP8-4; Sequence=VSP_030466; Name=5; Synonyms=CL-K1-Ic; IsoId=Q9BWP8-5; Sequence=VSP_030467; Name=6; Synonyms=CL-K1-IIa; IsoId=Q9BWP8-6; Sequence=VSP_030465, VSP_030469; Name=7; Synonyms=CL-K1-IIb; IsoId=Q9BWP8-7; Sequence=VSP_030466, VSP_030470; Name=8; Synonyms=CL-K1-IIc; IsoId=Q9BWP8-8; Sequence=VSP_030463, VSP_030471; Name=9; IsoId=Q9BWP8-9; Sequence=VSP_030464; Name=10; IsoId=Q9BWP8-10; Sequence=VSP_045532; Note=No experimental confirmation available.;
Disease3MC syndrome 2 (3MC2) [MIM:265050]: A disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. {ECO:0000269|PubMed:21258343}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionLectin that binds to various sugars including fucose and mannose. Has a higher affinity for fucose compared to mannose. Does not bind to glucose, N-acetylglucosamine and N- acetylgalactosamine. Also binds lipopolysaccharides (LPS). Involved in fundamental development serving as a guidance cue for neural crest cell migration (By similarity). {ECO:0000250}.
SimilarityBelongs to the COLEC10/COLEC11 family. {ECO:0000305}.
SimilarityContains 1 collagen-like domain. {ECO:0000305}.
SimilarityContains 1 C-type lectin domain. {ECO:0000255|PROSITE- ProRule:PRU00040}.
Subcellular LocationSecreted {ECO:0000305}.
Tissue SpecificityUbiquitous. {ECO:0000269|PubMed:17179669}.
Web ResourceName=Functional Glycomics Gateway - Glycan Binding; Note=Collectin K1; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_225";
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