COLGALT1
entrez
79709
canonical
uniprot
Q8NBJ5
canonical
ensembl
ENSG00000130309
resolver
ensp
ENSP00000252599
resolver
enst
ENST00000252599
resolver
genesymbol
COLGALT1
resolver
genesymbol_syn
GLT25D1
resolver
hgnc
HGNC:26182
resolver
uniprot
Q8NC64
resolver
uniprot_entry
GT251_HUMAN
resolver
uniprot_sec
Q8NC64
resolver
amino_acid_sequence
MAAAPRAGRRRGQPLLALLLLLLAPLPPGAPPGADAYFPEERWSPESPLQAPRVLIALLARNAAHALPTTLGALERLRHPRERTALWVATDHNMDNTSTVLREWLVAVKSLYHSVEWRPAEEPRSYPDEEGPKHWSDSRYEHVMKLRQAALKSARDMWADYILFVDADNLILNPDTLSLLIAENKTVVAPMLDSRAAYSNFWCGMTSQGYYKRTPAYIPIRKRDRRGCFAVPMVHSTFLIDLRKAASRNLAFYPPHPDYTWSFDDIIVFAFSCKQAEVQMYVCNKEEYGFLPVPLRAHSTLQDEAESFMHVQLEVMVKHPPAEPSRFISAPTKTPDKMGFDEVFMINLRRRQDRRERMLRALQAQEIECRLVEAVDGKAMNTSQVEALGIQMLPGYRDPYHGRPLTKGELGCFLSHYNIWKEVVDRGLQKSLVFEDDLRFEIFFKRRLMNLMRDVEREGLDWDLIYVGRKRMQVEHPEKAVPRVRNLVEADYSYWTLAYVISLQGARKLLAAEPLSKMLPVDEFLPVMFDKHPVSEYKAHFSLRNLHAFSVEPLLIYPTHYTGDDGYVSDTETSVVWNNEHVKTDWDRAKSQKMREQQALSREAKNSDVLQSPLDSAARDEL
uniprot
proteins
disease_involvement
DISEASE: Brain small vessel disease 3 (BSVD3) [MIM:618360]: An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. {ECO:0000269|PubMed:30412317}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.50
uniprot
proteins
function
FUNCTION: Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836). Also involved in the biosynthesis of collagen type IV (PubMed:30412317). {ECO:0000269|PubMed:19075007, ECO:0000269|PubMed:22216269, ECO:0000269|PubMed:27402836, ECO:0000269|PubMed:30412317}.
uniprot
proteins
mass_dalton
71636
uniprot
proteins
mutagenesis
MUTAGEN 166; /note="D->A: Loss of galactosyltransferase activity; when associated with A-168."; /evidence="ECO:0000269|PubMed:22216269"; MUTAGEN 168; /note="D->A: Loss of galactosyltransferase activity; when associated with A-166."; /evidence="ECO:0000269|PubMed:22216269"; MUTAGEN 292; /note="P->N: Small decrease of galactosyltransferase activity."; /evidence="ECO:0000269|PubMed:22216269"; MUTAGEN 336; /note="D->S: Small decrease of galactosyltransferase activity."; /evidence="ECO:0000269|PubMed:22216269"; MUTAGEN 461; /note="D->A: Loss of galactosyltransferase activity; when associated with A-463."; /evidence="ECO:0000269|PubMed:22216269"; MUTAGEN 463; /note="D->A: Loss of galactosyltransferase activity; when associated with A-461."; /evidence="ECO:0000269|PubMed:22216269"; MUTAGEN 585; /note="D->A: No effect on galactosyltransferase activity; when associated with A-587."; /evidence="ECO:0000269|PubMed:22216269"; MUTAGEN 587; /note="D->A: No effect on galactosyltransferase activity; when associated with A-585."; /evidence="ECO:0000269|PubMed:22216269
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:20470363}.
uniprot
proteins
protein_family
Glycosyltransferase 25 family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
19075007
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20470363
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22216269
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27402836
uniprot
proteins
pubmed
30412317
uniprot
proteins
sequence_length
622
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:20470363}. Note=Colocalized with PLOD3 and mannose binding lectin/MBL2. {ECO:0000269|PubMed:20470363}.
uniprot
proteins