COLGALT1 (collagen beta(1-O)galactosyltransferase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79709
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen beta(1-O)galactosyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COLGALT1
Synonyms (NCBI Gene) Gene synonyms aliases
BSVD3, ColGalT 1, GLT25D1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BSVD3
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs181844791 G>C,T Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs1478523191 T>G Pathogenic Coding sequence variant, missense variant, 5 prime UTR variant
rs1568481204 G>- Pathogenic Frameshift variant, coding sequence variant
rs1568481244 G>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
miRTarBase ID miRNA Experiments Reference
MIRT020546 hsa-miR-155-5p Proteomics 18668040
MIRT022180 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT027402 hsa-miR-98-5p Microarray 19088304
MIRT037931 hsa-miR-532-3p CLASH 23622248
MIRT037553 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005788 Component Endoplasmic reticulum lumen IDA 20470363
GO:0005788 Component Endoplasmic reticulum lumen TAS
GO:0016020 Component Membrane HDA 19946888
GO:0018215 Process Protein phosphopantetheinylation IEA
GO:0050211 Function Procollagen galactosyltransferase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617531 26182 ENSG00000130309
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8NBJ5
Protein name Procollagen galactosyltransferase 1 (EC 2.4.1.50) (Collagen beta(1-O)galactosyltransferase 1) (ColGalT 1) (Glycosyltransferase 25 family member 1) (Hydroxylysine galactosyltransferase 1)
Protein 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 (P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13704 Glyco_tranf_2_4 61 → 181 Family
PF01755 Glyco_transf_25 340 → 525 Glycosyltransferase family 25 (LPS biosynthesis protein) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous with higher levels in placenta, heart, lung and spleen. {ECO:0000269|PubMed:19075007}.
Sequence 
MAAAPRAGRRRGQPLLALLLLLLAPLPPGAPPGADAYFPEERWSPESPLQAPRVLIALLA
RNAAHALPTTLGALERLRHPRERTALWVATDHNMDNTSTVLREWLVAVKSLYHSVEWRPA
EEPRSYPDEEGPKHWSDSRYEHVMKLRQAALKSARDMWADYILFVDADNLILNPDTLSLL
IAENKTVVAPMLDSRAAYSNFWCGMTSQGYYKRTPAYIPIRKRDRRGCFAVPMVHSTFLI
DLRKAASRNLAFYPPHPDYTWSFDDIIVFAFSCKQAEVQMYVCNKEEYGFLPVPLRAHST
LQDEAESFMHVQLEVMVKHPPAEPSRFISAPTKTPDKMGFDEVFMINLRRRQDRRERMLR
ALQAQEIECRLVEAVDGKAMNTSQVEALGIQMLPGYRDPYHGRPLTKGELGCFLSHYNIW
KEVVDRGLQKSLVFEDDLRFEIFFKRRLMNLMRDVEREGLDWDLIYVGRKRMQVEHPEKA
VPRVRNLVEADYSYWTLAYVISLQGARKLLAAEPLSKMLPVDEFLPVMFDKHPVSEYKAH
FSLRNLHAFSVEPLLIYPTHYTGDDGYVSDTETSVVWNNEHVKTDWDRAKSQKMREQQAL
SREAKNSDVLQSPLDSAARDEL
Sequence length 622
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Lysine degradation
Other types of O-glycan biosynthesis
Metabolic pathways 		  Collagen biosynthesis and modifying enzymes
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Leukoencephalopathy Leukoencephalopathy rs34757931
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Show/Hide Text Mining Associations (7)
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 35842702
Cerebral Small Vessel Diseases Associate 35307828
Cognition Disorders Associate 35307828
Neoplasms Associate 35842702
Osteosarcoma Associate 27402836
Stroke Associate 32106772
Urinary Bladder Neoplasms Associate 40312703