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GALT (galactose-1-phosphate uridylyltransferase)

Identity

Other alias-
HGNC (Hugo) GALT
LocusID (NCBI) 2592
Atlas_Id 45878
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 34646589 and ends at 34650598 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GALT (9p13.3) / CENPF (1q41)GALT (9p13.3) / IL11RA (9p13.3)SNRNP70 (19q13.33) / GALT (9p13.3)

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)GALT   4135
Cards
Entrez_Gene (NCBI)GALT  2592  galactose-1-phosphate uridylyltransferase
Aliases
GeneCards (Weizmann)GALT
Ensembl hg19 (Hinxton)ENSG00000213930 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000213930 [Gene_View]  chr9:34646589-34650598 [Contig_View]  GALT [Vega]
ICGC DataPortalENSG00000213930
TCGA cBioPortalGALT
AceView (NCBI)GALT
Genatlas (Paris)GALT
WikiGenes2592
SOURCE (Princeton)GALT
Genetics Home Reference (NIH)GALT
Genomic and cartography
GoldenPath hg38 (UCSC)GALT  -     chr9:34646589-34650598 +  9p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GALT  -     9p13.3   [Description]    (hg19-Feb_2009)
EnsemblGALT - 9p13.3 [CytoView hg19]  GALT - 9p13.3 [CytoView hg38]
Mapping of homologs : NCBIGALT [Mapview hg19]  GALT [Mapview hg38]
OMIM230400   606999   
Gene and transcription
Genbank (Entrez)AI292159 AK096026 AK096137 AK293212 AK300070
RefSeq transcript (Entrez)NM_000155 NM_001258332
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GALT
Cluster EST : UnigeneHs.522090 [ NCBI ]
CGAP (NCI)Hs.522090
Alternative Splicing GalleryENSG00000213930
Gene ExpressionGALT [ NCBI-GEO ]   GALT [ EBI - ARRAY_EXPRESS ]   GALT [ SEEK ]   GALT [ MEM ]
Gene Expression Viewer (FireBrowse)GALT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2592
GTEX Portal (Tissue expression)GALT
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07902   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07902  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07902
Splice isoforms : SwissVarP07902
Catalytic activity : Enzyme2.7.7.12 [ Enzyme-Expasy ]   2.7.7.122.7.7.12 [ IntEnz-EBI ]   2.7.7.12 [ BRENDA ]   2.7.7.12 [ KEGG ]   
PhosPhoSitePlusP07902
Domaine pattern : Prosite (Expaxy)GAL_P_UDP_TRANSF_I (PS00117)   
Domains : Interpro (EBI)GalP_UDPtransf1    GalP_UDPtransf1_His-AS    GalP_Utransf_C    GalP_Utransf_N    HIT-like   
Domain families : Pfam (Sanger)GalP_UDP_tr_C (PF02744)    GalP_UDP_transf (PF01087)   
Domain families : Pfam (NCBI)pfam02744    pfam01087   
Conserved Domain (NCBI)GALT
DMDM Disease mutations2592
Blocks (Seattle)GALT
PDB (SRS)1R3A    5IN3   
PDB (PDBSum)1R3A    5IN3   
PDB (IMB)1R3A    5IN3   
PDB (RSDB)1R3A    5IN3   
Structural Biology KnowledgeBase1R3A    5IN3   
SCOP (Structural Classification of Proteins)1R3A    5IN3   
CATH (Classification of proteins structures)1R3A    5IN3   
SuperfamilyP07902
Human Protein AtlasENSG00000213930
Peptide AtlasP07902
HPRD06106
IPIIPI00013925   IPI01022887   IPI00941286   IPI00956379   IPI00969572   IPI00815821   IPI00982218   IPI01026394   IPI01025163   IPI01026289   
Protein Interaction databases
DIP (DOE-UCLA)P07902
IntAct (EBI)P07902
FunCoupENSG00000213930
BioGRIDGALT
STRING (EMBL)GALT
ZODIACGALT
Ontologies - Pathways
QuickGOP07902
Ontology : AmiGOprotein binding  Golgi apparatus  cytosol  galactose metabolic process  UDP-glucose catabolic process  UDP-glucose:hexose-1-phosphate uridylyltransferase activity  zinc ion binding  galactose catabolic process  
Ontology : EGO-EBIprotein binding  Golgi apparatus  cytosol  galactose metabolic process  UDP-glucose catabolic process  UDP-glucose:hexose-1-phosphate uridylyltransferase activity  zinc ion binding  galactose catabolic process  
Pathways : BIOCARTALeloir pathway of galactose metabolism [Genes]   
Pathways : KEGGGalactose metabolism    Amino sugar and nucleotide sugar metabolism    Prolactin signaling pathway   
NDEx NetworkGALT
Atlas of Cancer Signalling NetworkGALT
Wikipedia pathwaysGALT
Orthology - Evolution
OrthoDB2592
GeneTree (enSembl)ENSG00000213930
Phylogenetic Trees/Animal Genes : TreeFamGALT
HOVERGENP07902
HOGENOMP07902
Homologs : HomoloGeneGALT
Homology/Alignments : Family Browser (UCSC)GALT
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGALT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GALT
dbVarGALT
ClinVarGALT
1000_GenomesGALT 
Exome Variant ServerGALT
ExAC (Exome Aggregation Consortium)GALT (select the gene name)
Genetic variants : HAPMAP2592
Genomic Variants (DGV)GALT [DGVbeta]
DECIPHERGALT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGALT 
Mutations
ICGC Data PortalGALT 
TCGA Data PortalGALT 
Broad Tumor PortalGALT
OASIS PortalGALT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGALT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGALT
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 GALT
DgiDB (Drug Gene Interaction Database)GALT
DoCM (Curated mutations)GALT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GALT (select a term)
intoGenGALT
Cancer3DGALT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM230400    606999   
Orphanet11265   
MedgenGALT
Genetic Testing Registry GALT
NextProtP07902 [Medical]
TSGene2592
GENETestsGALT
Target ValidationGALT
Huge Navigator GALT [HugePedia]
snp3D : Map Gene to Disease2592
BioCentury BCIQGALT
ClinGenGALT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2592
Chemical/Pharm GKB GenePA28548
Clinical trialGALT
Miscellaneous
canSAR (ICR)GALT (select the gene name)
Probes
Litterature
PubMed108 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGALT
EVEXGALT
GoPubMedGALT
iHOPGALT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:34:50 CEST 2017

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