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 (NCBI)C1GALT
T-synthase
HGNC (Hugo) C1GALT1
HGNC Alias symbC1GALT
T-synthase
HGNC Alias namecore 1 beta3-Gal-T
LocusID (NCBI) 56913
Atlas_Id 53105
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at 7182544 and ends at 7248615 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    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]  ENSG00000106392 [Sequence]  chr7:7182544-7248615 [Contig_View]  C1GALT1 [Vega]
ICGC DataPortalENSG00000106392
TCGA cBioPortalC1GALT1
AceView (NCBI)C1GALT1
Genatlas (Paris)C1GALT1
SOURCE (Princeton)C1GALT1
Genetics Home Reference (NIH)C1GALT1
Genomic and cartography
GoldenPath hg38 (UCSC)C1GALT1  -     chr7:7182544-7248615 +  7p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C1GALT1  -     7p22.1   [Description]    (hg19-Feb_2009)
GoldenPathC1GALT1 - 7p22.1 [CytoView hg19]  C1GALT1 - 7p22.1 [CytoView hg38]
ImmunoBaseENSG00000106392
Genome Data Viewer NCBIC1GALT1 [Mapview hg19]  
OMIM610555   
Gene and transcription
Genbank (Entrez)AA443459 AF155582 AI400132 AI471988 AJ132443
RefSeq transcript (Entrez)NM_020156
Consensus coding sequences : CCDS (NCBI)C1GALT1
Gene ExpressionC1GALT1 [ NCBI-GEO ]   C1GALT1 [ EBI - ARRAY_EXPRESS ]   C1GALT1 [ SEEK ]   C1GALT1 [ MEM ]
Gene Expression Viewer (FireBrowse)C1GALT1 [ Firebrowse - Broad ]
GenevisibleExpression of C1GALT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56913
GTEX Portal (Tissue expression)C1GALT1
Human Protein AtlasENSG00000106392-C1GALT1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9NS00
Domains : Interpro (EBI)C1GALT1    Fringe-like   
Domain families : Pfam (Sanger)Fringe (PF02434)   
Domain families : Pfam (NCBI)pfam02434   
Conserved Domain (NCBI)C1GALT1
SuperfamilyQ9NS00
AlphaFold pdb e-kbQ9NS00   
Human Protein Atlas [tissue]ENSG00000106392-C1GALT1 [tissue]
HPRD16631
Protein Interaction databases
DIP (DOE-UCLA)Q9NS00
IntAct (EBI)Q9NS00
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  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity  O-glycan processing  O-glycan processing, core 1  cell differentiation  metal ion binding  
Ontology : EGO-EBIGolgi membrane  angiogenesis  kidney development  protein binding  integral component of membrane  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity  glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity  O-glycan processing  O-glycan processing, core 1  cell differentiation  metal ion binding  
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
Homologs : HomoloGeneC1GALT1
Homology/Alignments : Family Browser (UCSC)C1GALT1
Gene fusions - Rearrangements
Fusion : QuiverC1GALT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC1GALT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C1GALT1
dbVarC1GALT1
ClinVarC1GALT1
MonarchC1GALT1
1000_GenomesC1GALT1 
Exome Variant ServerC1GALT1
GNOMAD BrowserENSG00000106392
Varsome BrowserC1GALT1
ACMGC1GALT1 variants
VarityQ9NS00
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]  
Somatic Mutations in Cancer : COSMIC3DC1GALT1
Mutations and Diseases : HGMDC1GALT1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaC1GALT1
DgiDB (Drug Gene Interaction Database)C1GALT1
DoCM (Curated mutations)C1GALT1
CIViC (Clinical Interpretations of Variants in Cancer)C1GALT1
Cancer3DC1GALT1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610555   
Orphanet
DisGeNETC1GALT1
MedgenC1GALT1
Genetic Testing Registry C1GALT1
NextProtQ9NS00 [Medical]
GENETestsC1GALT1
Target ValidationC1GALT1
Huge Navigator C1GALT1 [HugePedia]
ClinGenC1GALT1
Clinical trials, drugs, therapy
MyCancerGenomeC1GALT1
Protein Interactions : CTDC1GALT1
Pharm GKB GenePA134971259
PharosQ9NS00
Clinical trialC1GALT1
Miscellaneous
canSAR (ICR)C1GALT1
HarmonizomeC1GALT1
DataMed IndexC1GALT1
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXC1GALT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:01:40 CEST 2021

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