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

Identity

Alias_namesGLT25D1
glycosyltransferase 25 domain containing 1
Alias_symbol (synonym)FLJ22329
Other alias
HGNC (Hugo) COLGALT1
LocusID (NCBI) 79709
Atlas_Id 62008
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17666511 and ends at 17693965 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CD63 (12q13.2) / COLGALT1 (19p13.11)COLGALT1 (19p13.11) / COLGALT1 (19p13.11)COLGALT1 (19p13.11) / MTHFD1 (14q23.3)
FAM129C (19p13.11) / COLGALT1 (19p13.11)KDM5C (Xp11.22) / COLGALT1 (19p13.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)COLGALT1   26182
Cards
Entrez_Gene (NCBI)COLGALT1  79709  collagen beta(1-O)galactosyltransferase 1
AliasesGLT25D1
GeneCards (Weizmann)COLGALT1
Ensembl hg19 (Hinxton)ENSG00000130309 [Gene_View]  chr19:17666511-17693965 [Contig_View]  COLGALT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130309 [Gene_View]  chr19:17666511-17693965 [Contig_View]  COLGALT1 [Vega]
ICGC DataPortalENSG00000130309
TCGA cBioPortalCOLGALT1
AceView (NCBI)COLGALT1
Genatlas (Paris)COLGALT1
WikiGenes79709
SOURCE (Princeton)COLGALT1
Genetics Home Reference (NIH)COLGALT1
Genomic and cartography
GoldenPath hg19 (UCSC)COLGALT1  -     chr19:17666511-17693965 +  19p13.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COLGALT1  -     19p13.11   [Description]    (hg38-Dec_2013)
EnsemblCOLGALT1 - 19p13.11 [CytoView hg19]  COLGALT1 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBICOLGALT1 [Mapview hg19]  COLGALT1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK025982 AK057140 AK074941 AK075541 AK225397
RefSeq transcript (Entrez)NM_024656
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)COLGALT1
Cluster EST : UnigeneHs.418795 [ NCBI ]
CGAP (NCI)Hs.418795
Alternative Splicing GalleryENSG00000130309
Gene ExpressionCOLGALT1 [ NCBI-GEO ]   COLGALT1 [ EBI - ARRAY_EXPRESS ]   COLGALT1 [ SEEK ]   COLGALT1 [ MEM ]
Gene Expression Viewer (FireBrowse)COLGALT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79709
GTEX Portal (Tissue expression)COLGALT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NBJ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NBJ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NBJ5
Splice isoforms : SwissVarQ8NBJ5
Catalytic activity : Enzyme2.4.1.50 [ Enzyme-Expasy ]   2.4.1.502.4.1.50 [ IntEnz-EBI ]   2.4.1.50 [ BRENDA ]   2.4.1.50 [ KEGG ]   
PhosPhoSitePlusQ8NBJ5
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)   
Domains : Interpro (EBI)Glyco_trans_25    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glyco_transf_25 (PF01755)   
Domain families : Pfam (NCBI)pfam01755   
Conserved Domain (NCBI)COLGALT1
DMDM Disease mutations79709
Blocks (Seattle)COLGALT1
SuperfamilyQ8NBJ5
Human Protein AtlasENSG00000130309
Peptide AtlasQ8NBJ5
HPRD07986
IPIIPI00168262   IPI00450971   
Protein Interaction databases
DIP (DOE-UCLA)Q8NBJ5
IntAct (EBI)Q8NBJ5
FunCoupENSG00000130309
BioGRIDCOLGALT1
STRING (EMBL)COLGALT1
ZODIACCOLGALT1
Ontologies - Pathways
QuickGOQ8NBJ5
Ontology : AmiGOendoplasmic reticulum lumen  endoplasmic reticulum lumen  metabolic process  membrane  extracellular matrix organization  procollagen galactosyltransferase activity  
Ontology : EGO-EBIendoplasmic reticulum lumen  endoplasmic reticulum lumen  metabolic process  membrane  extracellular matrix organization  procollagen galactosyltransferase activity  
Pathways : KEGGLysine degradation    Other types of O-glycan biosynthesis   
NDEx NetworkCOLGALT1
Atlas of Cancer Signalling NetworkCOLGALT1
Wikipedia pathwaysCOLGALT1
Orthology - Evolution
OrthoDB79709
GeneTree (enSembl)ENSG00000130309
Phylogenetic Trees/Animal Genes : TreeFamCOLGALT1
HOVERGENQ8NBJ5
HOGENOMQ8NBJ5
Homologs : HomoloGeneCOLGALT1
Homology/Alignments : Family Browser (UCSC)COLGALT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOLGALT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COLGALT1
dbVarCOLGALT1
ClinVarCOLGALT1
1000_GenomesCOLGALT1 
Exome Variant ServerCOLGALT1
ExAC (Exome Aggregation Consortium)COLGALT1 (select the gene name)
Genetic variants : HAPMAP79709
Genomic Variants (DGV)COLGALT1 [DGVbeta]
DECIPHER (Syndromes)19:17666511-17693965  ENSG00000130309
CONAN: Copy Number AnalysisCOLGALT1 
Mutations
ICGC Data PortalCOLGALT1 
TCGA Data PortalCOLGALT1 
Broad Tumor PortalCOLGALT1
OASIS PortalCOLGALT1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCOLGALT1
BioMutasearch COLGALT1
DgiDB (Drug Gene Interaction Database)COLGALT1
DoCM (Curated mutations)COLGALT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COLGALT1 (select a term)
intoGenCOLGALT1
Cancer3DCOLGALT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCOLGALT1
Genetic Testing Registry COLGALT1
NextProtQ8NBJ5 [Medical]
TSGene79709
GENETestsCOLGALT1
Huge Navigator COLGALT1 [HugePedia]
snp3D : Map Gene to Disease79709
BioCentury BCIQCOLGALT1
ClinGenCOLGALT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79709
Chemical/Pharm GKB GenePA134991138
Clinical trialCOLGALT1
Miscellaneous
canSAR (ICR)COLGALT1 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOLGALT1
EVEXCOLGALT1
GoPubMedCOLGALT1
iHOPCOLGALT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:00:02 CET 2017

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