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

Also Known as BSVD3; GLT25D1; ColGalT 1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79709

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_tranf_2_4: Glycosyl transferase family 2 (61 - 180)

Glyco_transf_25

Glyco_transf_25: Glycosyltransferase family 25 (LPS biosynthesis protein) (341 - 524)

  • 0
  • 100
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  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03006 COLGALT1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others COLGALT1 NCBI