• Gene id: 79709

Gene Summary

• Gene Symbol: COLGALT1   Gene   UCSC   Ensembl
• Aliases: BSVD3, ColGalT 1, GLT25D1
• Gene name: collagen beta(1-O)galactosyltransferase 1
• Alternate names: procollagen galactosyltransferase 1, glycosyltransferase 25 domain containing 1, glycosyltransferase 25 family member 1, hydroxylysine galactosyltransferase 1,
• Gene location: 19p13.11 (17555648: 17583158)     Exons: 16     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 616659

Protein Summary

• Protein general information: Q8NBJ5  
  • 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)
  • Length: 622  
  • Mass: 71636
  • Tissue specificity: Ubiquitous with higher levels in placenta, heart, lung and spleen. {ECO
• Sequence:

  MAAAPRAGRRRGQPLLALLLLLLAPLPPGAPPGADAYFPEERWSPESPLQAPRVLIALLARNAAHALPTTLGALE
  RLRHPRERTALWVATDHNMDNTSTVLREWLVAVKSLYHSVEWRPAEEPRSYPDEEGPKHWSDSRYEHVMKLRQAA
  LKSARDMWADYILFVDADNLILNPDTLSLLIAENKTVVAPMLDSRAAYSNFWCGMTSQGYYKRTPAYIPIRKRDR
  RGCFAVPMVHSTFLIDLRKAASRNLAFYPPHPDYTWSFDDIIVFAFSCKQAEVQMYVCNKEEYGFLPVPLRAHST
  LQDEAESFMHVQLEVMVKHPPAEPSRFISAPTKTPDKMGFDEVFMINLRRRQDRRERMLRALQAQEIECRLVEAV
  DGKAMNTSQVEALGIQMLPGYRDPYHGRPLTKGELGCFLSHYNIWKEVVDRGLQKSLVFEDDLRFEIFFKRRLMN
  LMRDVEREGLDWDLIYVGRKRMQVEHPEKAVPRVRNLVEADYSYWTLAYVISLQGARKLLAAEPLSKMLPVDEFL
  PVMFDKHPVSEYKAHFSLRNLHAFSVEPLLIYPTHYTGDDGYVSDTETSVVWNNEHVKTDWDRAKSQKMREQQAL
  SREAKNSDVLQSPLDSAARDEL

• Structural information:
  • Interpro: IPR002654  IPR029044  
  • Prosite: PS00014
  • CDD: cd06532
  • STRING: ENSP00000252599
• Other Databases: GeneCards:  COLGALT1  Malacards:  COLGALT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050211	procollagen galactosyltransferase activity	IBA	molecular function
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:1904028	positive regulation of collagen fibril organization	IMP	biological process
GO:0050211	procollagen galactosyltransferase activity	IMP	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0050211	procollagen galactosyltransferase activity	IEA	molecular function
GO:0050211	procollagen galactosyltransferase activity	TAS	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation
hsa00514	Other types of O-glycan biosynthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq