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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 79709
Gene name Collagen beta(1-O)galactosyltransferase 1
Gene symbol COLGALT1
Synonyms (NCBI Gene)
BSVD3ColGalT 1GLT25D1
Chromosome 19
Chromosome location 19p13.11
Summary 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.
4
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.
37
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen IDA 20470363
GO:0005788 Component Endoplasmic reticulum lumen IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
GO:0006493 Process Protein O-linked glycosylation IMP 27402836
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617531 26182 ENSG00000130309
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brain small vessel disease 3 Pathogenic; Likely pathogenic rs1478523191, rs1568481204, rs181844791, rs1568481244, rs2076207767 RCV000761581
RCV000761582
RCV000761583
RCV000761584
RCV001175209
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance rs1185942261 RCV005933652
COLGALT1-related disorder Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs142585342, rs568261637, rs754091915, rs2115492, rs184365202, rs147899199, rs139979457, rs74461907, rs553507948, rs74585796, rs200996348, rs146187805, rs147915782, rs374671467, rs770024603
View all (7 more)		 RCV003916429
RCV004757543
RCV003916524
RCV003906302
RCV003961187
RCV003916588
RCV003943540
RCV003906349
RCV003936372
RCV003936380
RCV003961230
RCV003961264
RCV003906443
RCV003908987
RCV003948937
RCV003896772
RCV003964593
RCV003904657
RCV003901481
RCV003934398
RCV003969570
RCV003918631
Familial cancer of breast Likely benign rs370199311 RCV005935590
Vascular dementia Uncertain significance rs1226022092 RCV002051768
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
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