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B4GALT5 (beta-1,4-galactosyltransferase 5)

Identity

Alias (NCBI)B4Gal-T5
BETA4-GALT-IV
beta4Gal-T5
beta4GalT-V
gt-V
HGNC (Hugo) B4GALT5
HGNC Alias symbbeta4GalT-V
HGNC Alias namebeta4-GalT IV
HGNC Previous nameUDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5
LocusID (NCBI) 9334
Atlas_Id 49822
Location 20q13.13  [Link to chromosome band 20q13]
Location_base_pair Starts at 49632946 and ends at 49713878 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)
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    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]  ENSG00000158470 [Sequence]  chr20:49632946-49713878 [Contig_View]  B4GALT5 [Vega]
ICGC DataPortalENSG00000158470
TCGA cBioPortalB4GALT5
AceView (NCBI)B4GALT5
Genatlas (Paris)B4GALT5
SOURCE (Princeton)B4GALT5
Genetics Home Reference (NIH)B4GALT5
Genomic and cartography
GoldenPath hg38 (UCSC)B4GALT5  -     chr20:49632946-49713878 -  20q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B4GALT5  -     20q13.13   [Description]    (hg19-Feb_2009)
GoldenPathB4GALT5 - 20q13.13 [CytoView hg19]  B4GALT5 - 20q13.13 [CytoView hg38]
ImmunoBaseENSG00000158470
Genome Data Viewer NCBIB4GALT5 [Mapview hg19]  
OMIM604016   
Gene and transcription
Genbank (Entrez)AB004550 AB871482 AF038663 AF289556 AK054803
RefSeq transcript (Entrez)NM_004776
Consensus coding sequences : CCDS (NCBI)B4GALT5
Gene ExpressionB4GALT5 [ NCBI-GEO ]   B4GALT5 [ EBI - ARRAY_EXPRESS ]   B4GALT5 [ SEEK ]   B4GALT5 [ MEM ]
Gene Expression Viewer (FireBrowse)B4GALT5 [ Firebrowse - Broad ]
GenevisibleExpression of B4GALT5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9334
GTEX Portal (Tissue expression)B4GALT5
Human Protein AtlasENSG00000158470-B4GALT5 [pathology]   [cell]   [tissue]
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
Catalytic activity : Enzyme2.4.1.- [ Enzyme-Expasy ]   2.4.1.-2.4.1.- [ IntEnz-EBI ]   2.4.1.- [ BRENDA ]   2.4.1.- [ KEGG ]   [ MEROPS ]
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
SuperfamilyO43286
AlphaFold pdb e-kbO43286   
Human Protein Atlas [tissue]ENSG00000158470-B4GALT5 [tissue]
HPRD06807
Protein Interaction databases
DIP (DOE-UCLA)O43286
IntAct (EBI)O43286
BioGRIDB4GALT5
STRING (EMBL)B4GALT5
ZODIACB4GALT5
Ontologies - Pathways
QuickGOO43286
Ontology : AmiGOGolgi membrane  N-acetyllactosamine synthase activity  Golgi apparatus  protein glycosylation  galactosyltransferase activity  UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity  UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity  glycoprotein biosynthetic process  ganglioside biosynthetic process via lactosylceramide  integral component of membrane  O-glycan processing  keratan sulfate biosynthetic process  central nervous system neuron axonogenesis  central nervous system myelination  poly-N-acetyllactosamine biosynthetic process  regulation of protein stability  Golgi cisterna membrane  positive regulation of embryonic development  neuron maturation  metal ion binding  glycosylation  
Ontology : EGO-EBIGolgi membrane  N-acetyllactosamine synthase activity  Golgi apparatus  protein glycosylation  galactosyltransferase activity  UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity  UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity  glycoprotein biosynthetic process  ganglioside biosynthetic process via lactosylceramide  integral component of membrane  O-glycan processing  keratan sulfate biosynthetic process  central nervous system neuron axonogenesis  central nervous system myelination  poly-N-acetyllactosamine biosynthetic process  regulation of protein stability  Golgi cisterna membrane  positive regulation of embryonic development  neuron maturation  metal ion binding  glycosylation  
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
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]  
Fusion : QuiverB4GALT5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB4GALT5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B4GALT5
dbVarB4GALT5
ClinVarB4GALT5
MonarchB4GALT5
1000_GenomesB4GALT5 
Exome Variant ServerB4GALT5
GNOMAD BrowserENSG00000158470
Varsome BrowserB4GALT5
ACMGB4GALT5 variants
VarityO43286
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]  
Somatic Mutations in Cancer : COSMIC3DB4GALT5
Mutations and Diseases : HGMDB4GALT5
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaB4GALT5
DgiDB (Drug Gene Interaction Database)B4GALT5
DoCM (Curated mutations)B4GALT5
CIViC (Clinical Interpretations of Variants in Cancer)B4GALT5
Cancer3DB4GALT5
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604016   
Orphanet
DisGeNETB4GALT5
MedgenB4GALT5
Genetic Testing Registry B4GALT5
NextProtO43286 [Medical]
GENETestsB4GALT5
Target ValidationB4GALT5
Huge Navigator B4GALT5 [HugePedia]
ClinGenB4GALT5
Clinical trials, drugs, therapy
MyCancerGenomeB4GALT5
Protein Interactions : CTDB4GALT5
Pharm GKB GenePA25227
PharosO43286
Clinical trialB4GALT5
Miscellaneous
canSAR (ICR)B4GALT5
HarmonizomeB4GALT5
DataMed IndexB4GALT5
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXB4GALT5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:00:51 CEST 2021

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