Atlas of Genetics and Cytogenetics in Oncology and Haematology


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C1GALT1 (core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1)

Identity

Alias_symbol (synonym)C1GALT
T-synthase
Other alias
HGNC (Hugo) C1GALT1
LocusID (NCBI) 56913
Atlas_Id 53105
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at 7182615 and ends at 7248649 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AC006465.3 () / C1GALT1 (7p22.1)C1GALT1 (7p22.1) / C1GALT1 (7p22.1)AC006465.3 C1GALT1 7p22.1

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)C1GALT1   24337
Cards
Entrez_Gene (NCBI)C1GALT1  56913  core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
AliasesC1GALT; T-synthase
GeneCards (Weizmann)C1GALT1
Ensembl hg19 (Hinxton)ENSG00000106392 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106392 [Gene_View]  chr7:7182615-7248649 [Contig_View]  C1GALT1 [Vega]
ICGC DataPortalENSG00000106392
TCGA cBioPortalC1GALT1
AceView (NCBI)C1GALT1
Genatlas (Paris)C1GALT1
WikiGenes56913
SOURCE (Princeton)C1GALT1
Genetics Home Reference (NIH)C1GALT1
Genomic and cartography
GoldenPath hg38 (UCSC)C1GALT1  -     chr7:7182615-7248649 +  7p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C1GALT1  -     7p22.1   [Description]    (hg19-Feb_2009)
EnsemblC1GALT1 - 7p22.1 [CytoView hg19]  C1GALT1 - 7p22.1 [CytoView hg38]
Mapping of homologs : NCBIC1GALT1 [Mapview hg19]  C1GALT1 [Mapview hg38]
OMIM610555   
Gene and transcription
Genbank (Entrez)AA443459 AF155582 AI400132 AI471988 AJ132443
RefSeq transcript (Entrez)NM_020156
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C1GALT1
Cluster EST : UnigeneHs.735517 [ NCBI ]
CGAP (NCI)Hs.735517
Alternative Splicing GalleryENSG00000106392
Gene ExpressionC1GALT1 [ NCBI-GEO ]   C1GALT1 [ EBI - ARRAY_EXPRESS ]   C1GALT1 [ SEEK ]   C1GALT1 [ MEM ]
Gene Expression Viewer (FireBrowse)C1GALT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56913
GTEX Portal (Tissue expression)C1GALT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NS00   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NS00  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NS00
Splice isoforms : SwissVarQ9NS00
PhosPhoSitePlusQ9NS00
Domains : Interpro (EBI)C1GALT1    Fringe-like   
Domain families : Pfam (Sanger)Fringe (PF02434)   
Domain families : Pfam (NCBI)pfam02434   
Conserved Domain (NCBI)C1GALT1
DMDM Disease mutations56913
Blocks (Seattle)C1GALT1
SuperfamilyQ9NS00
Human Protein AtlasENSG00000106392
Peptide AtlasQ9NS00
HPRD16631
IPIIPI00024566   IPI00845228   IPI00894285   IPI00893888   
Protein Interaction databases
DIP (DOE-UCLA)Q9NS00
IntAct (EBI)Q9NS00
FunCoupENSG00000106392
BioGRIDC1GALT1
STRING (EMBL)C1GALT1
ZODIACC1GALT1
Ontologies - Pathways
QuickGOQ9NS00
Ontology : AmiGOGolgi membrane  angiogenesis  kidney development  protein binding  integral component of membrane  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity  O-glycan processing  O-glycan processing, core 1  metal ion binding  intestinal epithelial cell development  
Ontology : EGO-EBIGolgi membrane  angiogenesis  kidney development  protein binding  integral component of membrane  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity  O-glycan processing  O-glycan processing, core 1  metal ion binding  intestinal epithelial cell development  
Pathways : KEGGMucin type O-Glycan biosynthesis   
NDEx NetworkC1GALT1
Atlas of Cancer Signalling NetworkC1GALT1
Wikipedia pathwaysC1GALT1
Orthology - Evolution
OrthoDB56913
GeneTree (enSembl)ENSG00000106392
Phylogenetic Trees/Animal Genes : TreeFamC1GALT1
HOVERGENQ9NS00
HOGENOMQ9NS00
Homologs : HomoloGeneC1GALT1
Homology/Alignments : Family Browser (UCSC)C1GALT1
Gene fusions - Rearrangements
Fusion: TCGAAC006465.3 C1GALT1 7p22.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC1GALT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C1GALT1
dbVarC1GALT1
ClinVarC1GALT1
1000_GenomesC1GALT1 
Exome Variant ServerC1GALT1
ExAC (Exome Aggregation Consortium)C1GALT1 (select the gene name)
Genetic variants : HAPMAP56913
Genomic Variants (DGV)C1GALT1 [DGVbeta]
DECIPHERC1GALT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC1GALT1 
Mutations
ICGC Data PortalC1GALT1 
TCGA Data PortalC1GALT1 
Broad Tumor PortalC1GALT1
OASIS PortalC1GALT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC1GALT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC1GALT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch C1GALT1
DgiDB (Drug Gene Interaction Database)C1GALT1
DoCM (Curated mutations)C1GALT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C1GALT1 (select a term)
intoGenC1GALT1
Cancer3DC1GALT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610555   
Orphanet
MedgenC1GALT1
Genetic Testing Registry C1GALT1
NextProtQ9NS00 [Medical]
TSGene56913
GENETestsC1GALT1
Target ValidationC1GALT1
Huge Navigator C1GALT1 [HugePedia]
snp3D : Map Gene to Disease56913
BioCentury BCIQC1GALT1
ClinGenC1GALT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56913
Chemical/Pharm GKB GenePA134971259
Clinical trialC1GALT1
Miscellaneous
canSAR (ICR)C1GALT1 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC1GALT1
EVEXC1GALT1
GoPubMedC1GALT1
iHOPC1GALT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:48:19 CEST 2017

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