COLEC10
entrez
10584
canonical
uniprot
Q9Y6Z7
canonical
ensembl
ENSG00000184374
resolver
ensp
ENSP00000332723
resolver
enst
ENST00000332843
resolver
genesymbol
COLEC10
resolver
genesymbol_syn
CLL1
resolver
hgnc
HGNC:2220
resolver
uniprot
Q3SYH6
resolver
uniprot
Q6UW19
resolver
uniprot_entry
COL10_HUMAN
resolver
uniprot_sec
Q3SYH6
resolver
uniprot_sec
Q6UW19
resolver
amino_acid_sequence
MNGFASLLRRNQFILLVLFLLQIQSLGLDIDSRPTAEVCATHTISPGPKGDDGEKGDPGEEGKHGKVGRMGPKGIKGELGDMGDQGNIGKTGPIGKKGDKGEKGLLGIPGEKGKAGTVCDCGRYRKFVGQLDISIARLKTSMKFVKNVIAGIRETEEKFYYIVQEEKNYRESLTHCRIRGGMLAMPKDEAANTLIADYVAKSGFFRVFIGVNDLEREGQYMFTDNTPLQNYSNWNEGEPSDPYGHEDCVEMLSSGRWNDTECHLTMYFVCEFIKKKK
uniprot
proteins
disease_involvement
DISEASE: 3MC syndrome 3 (3MC3) [MIM:248340]: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. {ECO:0000269|PubMed:28301481}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine (PubMed:10224141). Acts as a chemoattractant, probably involved in the regulation of cell migration (PubMed:28301481). {ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.
uniprot
proteins
mass_dalton
30705
uniprot
proteins
protein_family
COLEC10/COLEC11 family
uniprot
proteins
pubmed
10224141
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
28301481
uniprot
proteins
sequence_length
277
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:28301481}. Golgi apparatus {ECO:0000250|UniProtKB:Q8CF98}. Cytoplasm {ECO:0000269|PubMed:10224141}.
uniprot
proteins