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B4GALT5 (beta-1,4-galactosyltransferase 5)

Identity

Alias_namesUDP-Gal:betaGlcNAc beta 1
Alias_symbol (synonym)beta4GalT-V
Other aliasB4Gal-T5
BETA4-GALT-IV
beta4Gal-T5
gt-V
HGNC (Hugo) B4GALT5
LocusID (NCBI) 9334
Atlas_Id 49822
Location 20q13.13  [Link to chromosome band 20q13]
Location_base_pair Starts at 49632946 and ends at 49713884 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
B4GALT5 (20q13.13) / CKB (14q32.32)B4GALT5 (20q13.13) / FBXW4 (10q24.32)B4GALT5 (20q13.13) / HNRNPA1 (12q13.13)
B4GALT5 (20q13.13) / HSP90AA1 (14q32.31)B4GALT5 (20q13.13) / PTK7 (6p21.1)B4GALT5 (20q13.13) / TOX2 (20q13.12)
DHCR24 (1p32.3) / B4GALT5 (20q13.13)NIPAL3 (1p36.11) / B4GALT5 (20q13.13)SLC12A6 (15q14) / B4GALT5 (20q13.13)
SNX2 (5q23.2) / B4GALT5 (20q13.13)TAF4 (20q13.33) / B4GALT5 (20q13.13)TAF5L (1q42.13) / B4GALT5 (20q13.13)
B4GALT5 20q13.13 / TOX2 20q13.12TAF4 20q13.33 / B4GALT5 20q13.13

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)B4GALT5   928
Cards
Entrez_Gene (NCBI)B4GALT5  9334  beta-1,4-galactosyltransferase 5
AliasesB4Gal-T5; BETA4-GALT-IV; beta4Gal-T5; beta4GalT-V; 
gt-V
GeneCards (Weizmann)B4GALT5
Ensembl hg19 (Hinxton)ENSG00000158470 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158470 [Gene_View]  chr20:49632946-49713884 [Contig_View]  B4GALT5 [Vega]
ICGC DataPortalENSG00000158470
TCGA cBioPortalB4GALT5
AceView (NCBI)B4GALT5
Genatlas (Paris)B4GALT5
WikiGenes9334
SOURCE (Princeton)B4GALT5
Genetics Home Reference (NIH)B4GALT5
Genomic and cartography
GoldenPath hg38 (UCSC)B4GALT5  -     chr20:49632946-49713884 -  20q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B4GALT5  -     20q13.13   [Description]    (hg19-Feb_2009)
EnsemblB4GALT5 - 20q13.13 [CytoView hg19]  B4GALT5 - 20q13.13 [CytoView hg38]
Mapping of homologs : NCBIB4GALT5 [Mapview hg19]  B4GALT5 [Mapview hg38]
OMIM604016   
Gene and transcription
Genbank (Entrez)AB004550 AB871482 AF038663 AF289556 AK054803
RefSeq transcript (Entrez)NM_004776
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)B4GALT5
Cluster EST : UnigeneHs.370487 [ NCBI ]
CGAP (NCI)Hs.370487
Alternative Splicing GalleryENSG00000158470
Gene ExpressionB4GALT5 [ NCBI-GEO ]   B4GALT5 [ EBI - ARRAY_EXPRESS ]   B4GALT5 [ SEEK ]   B4GALT5 [ MEM ]
Gene Expression Viewer (FireBrowse)B4GALT5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9334
GTEX Portal (Tissue expression)B4GALT5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43286   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43286  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43286
Splice isoforms : SwissVarO43286
Catalytic activity : Enzyme2.4.1.- [ Enzyme-Expasy ]   2.4.1.-2.4.1.- [ IntEnz-EBI ]   2.4.1.- [ BRENDA ]   2.4.1.- [ KEGG ]   
PhosPhoSitePlusO43286
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)B4GALT5
DMDM Disease mutations9334
Blocks (Seattle)B4GALT5
SuperfamilyO43286
Human Protein AtlasENSG00000158470
Peptide AtlasO43286
HPRD06807
IPIIPI00011656   IPI00383285   
Protein Interaction databases
DIP (DOE-UCLA)O43286
IntAct (EBI)O43286
FunCoupENSG00000158470
BioGRIDB4GALT5
STRING (EMBL)B4GALT5
ZODIACB4GALT5
Ontologies - Pathways
QuickGOO43286
Ontology : AmiGOGolgi membrane  beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity  carbohydrate metabolic process  galactosyltransferase activity  integral component of membrane  O-glycan processing  keratan sulfate biosynthetic process  Golgi cisterna membrane  metal ion binding  extracellular exosome  
Ontology : EGO-EBIGolgi membrane  beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity  carbohydrate metabolic process  galactosyltransferase activity  integral component of membrane  O-glycan processing  keratan sulfate biosynthetic process  Golgi cisterna membrane  metal ion binding  extracellular exosome  
Pathways : KEGGMucin type O-Glycan biosynthesis   
NDEx NetworkB4GALT5
Atlas of Cancer Signalling NetworkB4GALT5
Wikipedia pathwaysB4GALT5
Orthology - Evolution
OrthoDB9334
GeneTree (enSembl)ENSG00000158470
Phylogenetic Trees/Animal Genes : TreeFamB4GALT5
HOVERGENO43286
HOGENOMO43286
Homologs : HomoloGeneB4GALT5
Homology/Alignments : Family Browser (UCSC)B4GALT5
Gene fusions - Rearrangements
Fusion : MitelmanB4GALT5/TOX2 [20q13.13/20q13.12]  
Fusion : MitelmanTAF4/B4GALT5 [20q13.33/20q13.13]  [t(20;20)(q13;q13)]  
Fusion: TCGAB4GALT5 20q13.13 TOX2 20q13.12 LUAD
Fusion: TCGATAF4 20q13.33 B4GALT5 20q13.13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB4GALT5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B4GALT5
dbVarB4GALT5
ClinVarB4GALT5
1000_GenomesB4GALT5 
Exome Variant ServerB4GALT5
ExAC (Exome Aggregation Consortium)B4GALT5 (select the gene name)
Genetic variants : HAPMAP9334
Genomic Variants (DGV)B4GALT5 [DGVbeta]
DECIPHERB4GALT5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisB4GALT5 
Mutations
ICGC Data PortalB4GALT5 
TCGA Data PortalB4GALT5 
Broad Tumor PortalB4GALT5
OASIS PortalB4GALT5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICB4GALT5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB4GALT5
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
BioMutasearch B4GALT5
DgiDB (Drug Gene Interaction Database)B4GALT5
DoCM (Curated mutations)B4GALT5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B4GALT5 (select a term)
intoGenB4GALT5
Cancer3DB4GALT5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604016   
Orphanet
MedgenB4GALT5
Genetic Testing Registry B4GALT5
NextProtO43286 [Medical]
TSGene9334
GENETestsB4GALT5
Huge Navigator B4GALT5 [HugePedia]
snp3D : Map Gene to Disease9334
BioCentury BCIQB4GALT5
ClinGenB4GALT5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9334
Chemical/Pharm GKB GenePA25227
Clinical trialB4GALT5
Miscellaneous
canSAR (ICR)B4GALT5 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB4GALT5
EVEXB4GALT5
GoPubMedB4GALT5
iHOPB4GALT5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:07:25 CEST 2017

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