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

Homo sapiens

Also known as BSVD3; GLT25D1; ColGalT 1

Gene ID: 79709 | Gene type: protein coding

About COLGALT1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,555,649-17,583,157 (from NCBI)

This gene has 10 transcripts (splice variants), 260 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in placenta (RPKM 27.5), appendix (RPKM 22.9) and 25 other tissues.

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 endoplasmic reticulum. [provided by RefSeq, Dec 2015]

COLGALT1 Products(1)

mRNA	Protein	Name
NM_024656.4	NP_078932.2	procollagen galactosyltransferase 1 precursor

COLGALT1 Protein Structure

Glyco_tranf_2_4

Glyco_transf_25

0
100
200
300
400
500
622 a.a.

Protein Preferred Names

Protein Names

procollagen galactosyltransferase 1

glycosyltransferase 25 domain containing 1

Related Diseases

Diseases

Alias

Brain Small Vessel Disease 3

BSVD3

Brain Small Vessel Disease

Porencephaly

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2

CADASIL2	Cadasil 2
Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2	Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease
Htra1-Related Autosomal Dominant Cerebral Angiopathy	Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2

Osteogenesis Imperfecta, Type Ix

Osteogenesis Imperfecta Type 9	Osteogenesis Imperfecta Type Ix
OI9	Oi Type Ix
Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen	Oi, Type Ix
Oi 9	Osteogenesis Imperfecta 9
Oi-Ix

Brain Small Vessel Disease 2

Porencephaly 2	BSVD2
Gould Syndrome 2	Porencephaly 2, Formerly
Poren2, Formerly	Poren2

Lice Infestation

Pediculosis	Louse Infestation
Mixed Pediculosis	Lice Infestations
Infestation By Pediculus	Mixed Pediculosis Infestation
Pediculosis + Lice	Pediculosis And Phthirus Infection
Pediculosis And Phthirus Infections	Pediculosis And Phthirus Infestation
Infestation By Anoplura	Pediculus Infestation
Lice Nos

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03006	COLGALT1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COLGALT1	RGD	RGD:1309002
Bos taurus	COLGALT1	VGNC	VGNC:53572
Canis familiaris	COLGALT1	VGNC	VGNC:54592
Felis catus	COLGALT1	VGNC	VGNC:78412
Macaca mulatta	COLGALT1	VGNC	VGNC:109605
Mus musculus	COLGALT1	MGD	MGI:1924348

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