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A4GALT (alpha 1,4-galactosyltransferase)

Identity

Alias_namesalpha 1
Alias_symbol (synonym)A14GALT
Gb3S
P(k)
Other aliasA4GALT1
P1
P1PK
PK
HGNC (Hugo) A4GALT
LocusID (NCBI) 53947
Atlas_Id 46235
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 43088121 and ends at 43117307 bp from pter ( according to hg19-Feb_2009)

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)A4GALT   18149
LRG (Locus Reference Genomic)LRG_795
Cards
Entrez_Gene (NCBI)A4GALT  53947  alpha 1,4-galactosyltransferase
AliasesA14GALT; A4GALT1; Gb3S; P(k); 
P1; P1PK; PK
GeneCards (Weizmann)A4GALT
Ensembl hg19 (Hinxton)ENSG00000128274 [Gene_View]  chr22:43088121-43117307 [Contig_View]  A4GALT [Vega]
Ensembl hg38 (Hinxton)ENSG00000128274 [Gene_View]  chr22:43088121-43117307 [Contig_View]  A4GALT [Vega]
ICGC DataPortalENSG00000128274
TCGA cBioPortalA4GALT
AceView (NCBI)A4GALT
Genatlas (Paris)A4GALT
WikiGenes53947
SOURCE (Princeton)A4GALT
Genetics Home Reference (NIH)A4GALT
Genomic and cartography
GoldenPath hg19 (UCSC)A4GALT  -     chr22:43088121-43117307 -  22q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)A4GALT  -     22q13.2   [Description]    (hg38-Dec_2013)
EnsemblA4GALT - 22q13.2 [CytoView hg19]  A4GALT - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBIA4GALT [Mapview hg19]  A4GALT [Mapview hg38]
OMIM111400   607922   
Gene and transcription
Genbank (Entrez)AB037883 AJ245581 AK074388 AK130208 AK312927
RefSeq transcript (Entrez)NM_001318038 NM_017436
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_007495 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)A4GALT
Cluster EST : UnigeneHs.105956 [ NCBI ]
CGAP (NCI)Hs.105956
Alternative Splicing GalleryENSG00000128274
Gene ExpressionA4GALT [ NCBI-GEO ]   A4GALT [ EBI - ARRAY_EXPRESS ]   A4GALT [ SEEK ]   A4GALT [ MEM ]
Gene Expression Viewer (FireBrowse)A4GALT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53947
GTEX Portal (Tissue expression)A4GALT
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NPC4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NPC4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPC4
Splice isoforms : SwissVarQ9NPC4
Catalytic activity : Enzyme2.4.1.228 [ Enzyme-Expasy ]   2.4.1.2282.4.1.228 [ IntEnz-EBI ]   2.4.1.228 [ BRENDA ]   2.4.1.228 [ KEGG ]   
PhosPhoSitePlusQ9NPC4
Domains : Interpro (EBI)A1-4-GlycosylTfrase_dom    GlycoTrfase_DXD_sugar-bd_CS    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)Gb3_synth (PF04572)    Gly_transf_sug (PF04488)   
Domain families : Pfam (NCBI)pfam04572    pfam04488   
Conserved Domain (NCBI)A4GALT
DMDM Disease mutations53947
Blocks (Seattle)A4GALT
SuperfamilyQ9NPC4
Human Protein AtlasENSG00000128274
Peptide AtlasQ9NPC4
HPRD06390
IPIIPI00033541   IPI00433955   
Protein Interaction databases
DIP (DOE-UCLA)Q9NPC4
IntAct (EBI)Q9NPC4
FunCoupENSG00000128274
BioGRIDA4GALT
STRING (EMBL)A4GALT
ZODIACA4GALT
Ontologies - Pathways
QuickGOQ9NPC4
Ontology : AmiGOgloboside biosynthetic process  protein glycosylation  glycosphingolipid biosynthetic process  plasma membrane organization  galactosyltransferase activity  toxic substance binding  membrane  integral component of Golgi membrane  lactosylceramide 4-alpha-galactosyltransferase activity  extracellular exosome  
Ontology : EGO-EBIgloboside biosynthetic process  protein glycosylation  glycosphingolipid biosynthetic process  plasma membrane organization  galactosyltransferase activity  toxic substance binding  membrane  integral component of Golgi membrane  lactosylceramide 4-alpha-galactosyltransferase activity  extracellular exosome  
Pathways : KEGGGlycosphingolipid biosynthesis - globo series   
NDEx NetworkA4GALT
Atlas of Cancer Signalling NetworkA4GALT
Wikipedia pathwaysA4GALT
Orthology - Evolution
OrthoDB53947
GeneTree (enSembl)ENSG00000128274
Phylogenetic Trees/Animal Genes : TreeFamA4GALT
HOVERGENQ9NPC4
HOGENOMQ9NPC4
Homologs : HomoloGeneA4GALT
Homology/Alignments : Family Browser (UCSC)A4GALT
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerA4GALT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)A4GALT
dbVarA4GALT
ClinVarA4GALT
1000_GenomesA4GALT 
Exome Variant ServerA4GALT
ExAC (Exome Aggregation Consortium)A4GALT (select the gene name)
Genetic variants : HAPMAP53947
Genomic Variants (DGV)A4GALT [DGVbeta]
DECIPHER (Syndromes)22:43088121-43117307  ENSG00000128274
CONAN: Copy Number AnalysisA4GALT 
Mutations
ICGC Data PortalA4GALT 
TCGA Data PortalA4GALT 
Broad Tumor PortalA4GALT
OASIS PortalA4GALT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICA4GALT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDA4GALT
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 A4GALT
DgiDB (Drug Gene Interaction Database)A4GALT
DoCM (Curated mutations)A4GALT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)A4GALT (select a term)
intoGenA4GALT
Cancer3DA4GALT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM111400    607922   
Orphanet
MedgenA4GALT
Genetic Testing Registry A4GALT
NextProtQ9NPC4 [Medical]
TSGene53947
GENETestsA4GALT
Huge Navigator A4GALT [HugePedia]
snp3D : Map Gene to Disease53947
BioCentury BCIQA4GALT
ClinGenA4GALT (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD53947
Chemical/Pharm GKB GenePA24359
Clinical trialA4GALT
Miscellaneous
canSAR (ICR)A4GALT (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineA4GALT
EVEXA4GALT
GoPubMedA4GALT
iHOPA4GALT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:51:05 CEST 2017

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