ENSG00000130309


Homo sapiens

Features
Gene ID: ENSG00000130309
  
Biological name :COLGALT1
  
Synonyms : COLGALT1 / collagen beta(1-O)galactosyltransferase 1 / Q8NBJ5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.11
Gene start: 17555594
Gene end: 17583162
  
Corresponding Affymetrix probe sets: 218473_s_at (Human Genome U133 Plus 2.0 Array)   222644_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000252599
Ensembl peptide - ENSP00000468947
Ensembl peptide - ENSP00000469817
NCBI entrez gene - 79709     See in Manteia.
OMIM - 617531
RefSeq - XM_011528299
RefSeq - NM_024656
RefSeq - XM_005260080
RefSeq - XM_011528297
RefSeq - XM_011528298
RefSeq Peptide - NP_078932
swissprot - M0QYH0
swissprot - M0QX72
swissprot - Q8NBJ5
Ensembl - ENSG00000130309
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 A5PMF6ENSDARG00000058270Danio rerio
 colgalt1ENSDARG00000073974Danio rerio
 Q8K297ENSMUSG00000034807Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8IYK4 / COLGALT2 / collagen beta(1-O)galactosyltransferase 2ENSG0000019875664
CERCAM / Q5T4B2 / cerebral endothelial cell adhesion moleculeENSG0000016712354
PLOD3 / O60568 / procollagen-lysine,2-oxoglutarate 5-dioxygenase 3ENSG0000010639718
PLOD2 / O00469 / procollagen-lysine,2-oxoglutarate 5-dioxygenase 2ENSG0000015295217
PLOD1 / Q02809 / procollagen-lysine,2-oxoglutarate 5-dioxygenase 1ENSG0000008344417


Protein motifs (from Interpro)
Interpro ID Name
 IPR002654  Glycosyl transferase, family 25
 IPR029044  Nucleotide-diphospho-sugar transferases


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:1904028 positive regulation of collagen fibril organization IMP
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0016020 membrane HDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0050211 procollagen galactosyltransferase activity IMP


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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