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B4GALT1 (beta-1,4-galactosyltransferase 1)

Identity

Alias_namesGGTB2
UDP-Gal:betaGlcNAc beta 1
Alias_symbol (synonym)beta4Gal-T1
Other aliasB4GAL-T1
CDG2D
GT1
GTB
HGNC (Hugo) B4GALT1
LocusID (NCBI) 2683
Atlas_Id 43805
Location 9p21.1  [Link to chromosome band 9p21]
Location_base_pair Starts at 33110641 and ends at 33167358 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)
B4GALT1 (9p21.1) / B4GALT1 (9p21.1)B4GALT1 (9p21.1) / BAG1 (9p13.3)B4GALT1 (9p21.1) / FAM201A (9p13.1)
B4GALT1 (9p21.1) / NFX1 (9p13.3)B4GALT1 (9p21.1) / NUDT8 (11q13.2)B4GALT1 (9p21.1) / PHF24 (9p13.3)
NMRAL1 (16p13.3) / B4GALT1 (9p21.1)SMU1 (9p21.1) / B4GALT1 (9p21.1)B4GALT1 9p21.1 / BAG1 9p13.3
B4GALT1 9p21.1 / FAM201A 9p13.1B4GALT1 9p21.1 KIAA1045B4GALT1 9p21.1 / NFX1 9p13.3
SMU1 9p21.1 / B4GALT1 9p21.1

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(9;9)(p13;p21) B4GALT1/BAG1
t(9;9)(p13;p21) B4GALT1/FAM201A
t(9;9)(p13;p21) B4GALT1/NFX1
t(9;9)(p13;p21) B4GALT1/PHF24
SMU1/B4GALT1 (9p21)

External links

Nomenclature
HGNC (Hugo)B4GALT1   924
Cards
Entrez_Gene (NCBI)B4GALT1  2683  beta-1,4-galactosyltransferase 1
AliasesB4GAL-T1; CDG2D; GGTB2; GT1; 
GTB; beta4Gal-T1
GeneCards (Weizmann)B4GALT1
Ensembl hg19 (Hinxton)ENSG00000086062 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000086062 [Gene_View]  ENSG00000086062 [Sequence]  chr9:33110641-33167358 [Contig_View]  B4GALT1 [Vega]
ICGC DataPortalENSG00000086062
TCGA cBioPortalB4GALT1
AceView (NCBI)B4GALT1
Genatlas (Paris)B4GALT1
WikiGenes2683
SOURCE (Princeton)B4GALT1
Genetics Home Reference (NIH)B4GALT1
Genomic and cartography
GoldenPath hg38 (UCSC)B4GALT1  -     chr9:33110641-33167358 -  9p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B4GALT1  -     9p21.1   [Description]    (hg19-Feb_2009)
EnsemblB4GALT1 - 9p21.1 [CytoView hg19]  B4GALT1 - 9p21.1 [CytoView hg38]
Mapping of homologs : NCBIB4GALT1 [Mapview hg19]  B4GALT1 [Mapview hg38]
OMIM137060   607091   
Gene and transcription
Genbank (Entrez)A23697 AK296928 AK297541 AK312797 AK316294
RefSeq transcript (Entrez)NM_001497
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)B4GALT1
Cluster EST : UnigeneHs.272011 [ NCBI ]
CGAP (NCI)Hs.272011
Alternative Splicing GalleryENSG00000086062
Gene ExpressionB4GALT1 [ NCBI-GEO ]   B4GALT1 [ EBI - ARRAY_EXPRESS ]   B4GALT1 [ SEEK ]   B4GALT1 [ MEM ]
Gene Expression Viewer (FireBrowse)B4GALT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2683
GTEX Portal (Tissue expression)B4GALT1
Human Protein AtlasENSG00000086062-B4GALT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15291   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15291  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15291
Splice isoforms : SwissVarP15291
Catalytic activity : Enzyme2.4.1.- [ Enzyme-Expasy ]   2.4.1.-2.4.1.- [ IntEnz-EBI ]   2.4.1.- [ BRENDA ]   2.4.1.- [ KEGG ]   
PhosPhoSitePlusP15291
Domains : Interpro (EBI)Galactosyl_T    Galactosyl_T_C    Galactosyl_T_N    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Glyco_transf_7C (PF02709)    Glyco_transf_7N (PF13733)   
Domain families : Pfam (NCBI)pfam02709    pfam13733   
Conserved Domain (NCBI)B4GALT1
DMDM Disease mutations2683
Blocks (Seattle)B4GALT1
PDB (RSDB)2AE7    2AEC    2AES    2AGD    2AH9    2FY7    2FYA    2FYB    3EE5    4EE3    4EE4    4EE5    4EEA    4EEG    4EEM    4EEO    4L41   
PDB Europe2AE7    2AEC    2AES    2AGD    2AH9    2FY7    2FYA    2FYB    3EE5    4EE3    4EE4    4EE5    4EEA    4EEG    4EEM    4EEO    4L41   
PDB (PDBSum)2AE7    2AEC    2AES    2AGD    2AH9    2FY7    2FYA    2FYB    3EE5    4EE3    4EE4    4EE5    4EEA    4EEG    4EEM    4EEO    4L41   
PDB (IMB)2AE7    2AEC    2AES    2AGD    2AH9    2FY7    2FYA    2FYB    3EE5    4EE3    4EE4    4EE5    4EEA    4EEG    4EEM    4EEO    4L41   
Structural Biology KnowledgeBase2AE7    2AEC    2AES    2AGD    2AH9    2FY7    2FYA    2FYB    3EE5    4EE3    4EE4    4EE5    4EEA    4EEG    4EEM    4EEO    4L41   
SCOP (Structural Classification of Proteins)2AE7    2AEC    2AES    2AGD    2AH9    2FY7    2FYA    2FYB    3EE5    4EE3    4EE4    4EE5    4EEA    4EEG    4EEM    4EEO    4L41   
CATH (Classification of proteins structures)2AE7    2AEC    2AES    2AGD    2AH9    2FY7    2FYA    2FYB    3EE5    4EE3    4EE4    4EE5    4EEA    4EEG    4EEM    4EEO    4L41   
SuperfamilyP15291
Human Protein Atlas [tissue]ENSG00000086062-B4GALT1 [tissue]
Peptide AtlasP15291
HPRD00659
IPIIPI00215767   IPI00759755   IPI01014350   IPI01013346   IPI01013821   
Protein Interaction databases
DIP (DOE-UCLA)P15291
IntAct (EBI)P15291
FunCoupENSG00000086062
BioGRIDB4GALT1
STRING (EMBL)B4GALT1
ZODIACB4GALT1
Ontologies - Pathways
QuickGOP15291
Ontology : AmiGOGolgi trans cisterna  Golgi membrane  epithelial cell development  acute inflammatory response  beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity  beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity  N-acetyllactosamine synthase activity  lactose synthase activity  lactose synthase activity  extracellular space  Golgi apparatus  plasma membrane  lactose biosynthetic process  galactose metabolic process  protein N-linked glycosylation  cell adhesion  binding of sperm to zona pellucida  penetration of zona pellucida  negative regulation of cell proliferation  galactosyltransferase activity  oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  external side of plasma membrane  membrane  integral component of membrane  basolateral plasma membrane  keratan sulfate biosynthetic process  desmosome  manganese ion binding  filopodium  extracellular matrix organization  secretory granule membrane  brush border membrane  Golgi cisterna membrane  UDP-galactosyltransferase activity  azurophil granule membrane  positive regulation of apoptotic process  neutrophil degranulation  development of secondary sexual characteristics  leukocyte migration  protein homooligomerization  regulation of acrosome reaction  positive regulation of epithelial cell proliferation involved in wound healing  angiogenesis involved in wound healing  extracellular exosome  
Ontology : EGO-EBIGolgi trans cisterna  Golgi membrane  epithelial cell development  acute inflammatory response  beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity  beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity  N-acetyllactosamine synthase activity  lactose synthase activity  lactose synthase activity  extracellular space  Golgi apparatus  plasma membrane  lactose biosynthetic process  galactose metabolic process  protein N-linked glycosylation  cell adhesion  binding of sperm to zona pellucida  penetration of zona pellucida  negative regulation of cell proliferation  galactosyltransferase activity  oligosaccharide biosynthetic process  oligosaccharide biosynthetic process  external side of plasma membrane  membrane  integral component of membrane  basolateral plasma membrane  keratan sulfate biosynthetic process  desmosome  manganese ion binding  filopodium  extracellular matrix organization  secretory granule membrane  brush border membrane  Golgi cisterna membrane  UDP-galactosyltransferase activity  azurophil granule membrane  positive regulation of apoptotic process  neutrophil degranulation  development of secondary sexual characteristics  leukocyte migration  protein homooligomerization  regulation of acrosome reaction  positive regulation of epithelial cell proliferation involved in wound healing  angiogenesis involved in wound healing  extracellular exosome  
Pathways : KEGGGalactose metabolism    N-Glycan biosynthesis    Other types of O-glycan biosynthesis    Glycosaminoglycan biosynthesis - keratan sulfate    Glycosphingolipid biosynthesis - lacto and neolacto series   
NDEx NetworkB4GALT1
Atlas of Cancer Signalling NetworkB4GALT1
Wikipedia pathwaysB4GALT1
Orthology - Evolution
OrthoDB2683
GeneTree (enSembl)ENSG00000086062
Phylogenetic Trees/Animal Genes : TreeFamB4GALT1
HOGENOMP15291
Homologs : HomoloGeneB4GALT1
Homology/Alignments : Family Browser (UCSC)B4GALT1
Gene fusions - Rearrangements
Fusion : MitelmanB4GALT1/BAG1 [9p21.1/9p13.3]  
Fusion : MitelmanB4GALT1/FAM201A [9p21.1/9p13.1]  [t(9;9)(p13;p21)]  
Fusion : MitelmanB4GALT1/NFX1 [9p21.1/9p13.3]  [t(9;9)(p13;p21)]  
Fusion : MitelmanB4GALT1/PHF24 [9p21.1/9p13.3]  [t(9;9)(p13;p21)]  
Fusion : MitelmanSMU1/B4GALT1 [9p21.1/9p21.1]  [t(9;9)(p21;p21)]  
Fusion PortalB4GALT1 9p21.1 BAG1 9p13.3 LUAD
Fusion PortalB4GALT1 9p21.1 FAM201A 9p13.1 BRCA
Fusion PortalB4GALT1 9p21.1 KIAA1045 LUSC
Fusion PortalB4GALT1 9p21.1 NFX1 9p13.3 BRCA
Fusion PortalSMU1 9p21.1 B4GALT1 9p21.1 HNSC
Fusion : QuiverB4GALT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB4GALT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B4GALT1
dbVarB4GALT1
ClinVarB4GALT1
1000_GenomesB4GALT1 
Exome Variant ServerB4GALT1
ExAC (Exome Aggregation Consortium)ENSG00000086062
GNOMAD BrowserENSG00000086062
Varsome BrowserB4GALT1
Genetic variants : HAPMAP2683
Genomic Variants (DGV)B4GALT1 [DGVbeta]
DECIPHERB4GALT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisB4GALT1 
Mutations
ICGC Data PortalB4GALT1 
TCGA Data PortalB4GALT1 
Broad Tumor PortalB4GALT1
OASIS PortalB4GALT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB4GALT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB4GALT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch B4GALT1
DgiDB (Drug Gene Interaction Database)B4GALT1
DoCM (Curated mutations)B4GALT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B4GALT1 (select a term)
intoGenB4GALT1
Cancer3DB4GALT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137060    607091   
Orphanet11358   
DisGeNETB4GALT1
MedgenB4GALT1
Genetic Testing Registry B4GALT1
NextProtP15291 [Medical]
TSGene2683
GENETestsB4GALT1
Target ValidationB4GALT1
Huge Navigator B4GALT1 [HugePedia]
snp3D : Map Gene to Disease2683
BioCentury BCIQB4GALT1
ClinGenB4GALT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2683
Chemical/Pharm GKB GenePA25223
Clinical trialB4GALT1
Miscellaneous
canSAR (ICR)B4GALT1 (select the gene name)
DataMed IndexB4GALT1
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB4GALT1
EVEXB4GALT1
GoPubMedB4GALT1
iHOPB4GALT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:02:46 CET 2019
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