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GALT Gene

protein-coding   GIFtS: 69
GCID: GC09P034636

Galactose-1-Phosphate Uridylyltransferase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Galactose-1-Phosphate Uridylyltransferase1 2
Gal-1-P Uridylyltransferase2 3
UDP-Glucose--Hexose-1-Phosphate Uridylyltransferase2 3
Galactose-1-Phosphate Uridyl Transferase2
EC 2.7.7.123

External Ids:    HGNC: 41351   Entrez Gene: 25922   Ensembl: ENSG000002139307   OMIM: 6069995   UniProtKB: P079023   
ORGUL members:         

Export aliases for GALT gene to outside databases

Previous GC identifers: GC09P034958 GC09P034816


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GALT Gene:
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose
metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose.
The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if
lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for GALT Gene:
GALT (galactose-1-phosphate uridylyltransferase) is a protein-coding gene. Diseases associated with GALT include galactosemia, and galactokinase deficiency. GO annotations related to this gene include UDP-glucose:hexose-1-phosphate uridylyltransferase activity.

Gene Wiki entry for GALT (Galactoseā€"1-phosphate uridylyltransferase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALT gene promoter:
         USF1   p53   AP-1   USF-1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALT promoter sequence
   Search Chromatin IP Primers for GALT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p13   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13

GALT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALT gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P034636:  view genomic region     (about GC identifiers)

Start:
34,638,130 bp from pter      End:
34,651,032 bp from pter
Size:
12,903 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GALT_HUMAN, P07902 (See protein sequence)
Recommended Name: Galactose-1-phosphate uridylyltransferase  
Size: 379 amino acids; 43363 Da
Cofactor: Binds 1 iron ion per subunit (Potential)
Cofactor: Binds 1 zinc ion per subunit (Potential)
Subunit: Homodimer (Probable)
1 PDB 3D structure from and Proteopedia for GALT:
1R3A (3D)    
Secondary accessions: B4E097 E7ET32 Q14355 Q14356 Q14357 Q14358 Q14359 Q14360 Q14361 Q14363
Q14364 Q14365 Q14369 Q14370 Q14371 Q14372 Q14373 Q14374 Q14375 Q14377 Q14378 Q14380 Q14381
Q14382 Q14383 Q14384 Q14385 Q14386 Q14387 Q14389 Q16766 Q53XK1 Q5VZ81 Q96BY1
Alternative splicing: 2 isoforms:  P07902-1   P07902-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GALT: NX_P07902

Explore proteomics data for GALT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GALT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000146.2  NP_001245261.1  

    ENSEMBL proteins: 
     ENSP00000451435   ENSP00000432839   ENSP00000368119   ENSP00000450942   ENSP00000450419  
     ENSP00000451756   ENSP00000401956  
    Reactome Protein details: P07902

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR001937 GalP_UDPtransf1
     IPR005849 GalP_Utransf_N
     IPR005850 GalP_Utransf_C
     IPR011146 HIT-like
     IPR019779 GalP_UDPtransf1_His-AS

    Graphical View of Domain Structure for InterPro Entry P07902

    ProtoNet protein and cluster: P07902

    1 Blocks protein domain: IPB001937 Galactose-1-phosphate uridyl transferase

    UniProtKB/Swiss-Prot: GALT_HUMAN, P07902
    Similarity: Belongs to the galactose-1-phosphate uridylyltransferase type 1 family


    GALT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GALT_HUMAN, P07902
    Catalytic activity: UDP-alpha-D-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate +
    UDP-alpha-D-galactose
    Biophysicochemical properties: Kinetic parameters: KM=1.25 mM for alpha-D-galactose 1-phosphate (at pH 8.7);
    KM=0.43 mM for UDP-glucose (at pH 8.7); Vmax=48 umol/min/mg enzyme;

         Genatlas biochemistry entry for GALT:
    galactose-1-phosphate uridyltransferase

         Enzyme Number (IUBMB): EC 2.7.7.121

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0008108UDP-glucose:hexose-1-phosphate uridylyltransferase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    GALT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GALT:
     Upregulation of Wnt/beta-caten 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Galt):
     homeostasis/metabolism 

    GALT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Galttm1Sgl for GALT

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GALT
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    miRNA
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    miRTarBase miRNAs that target GALT:
    hsa-mir-26b-5p (MIRT030075), hsa-mir-346 (MIRT004220), hsa-mir-197-3p (MIRT004210)

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    4 qRT-PCR Assays for microRNAs that regulate GALT:
    hsa-miR-146b-3p hsa-miR-4328 hsa-miR-324-3p hsa-miR-1291
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    nucleus2
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA--
    GO:0005829cytosol TAS--

    GALT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GALT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Galactose metabolism
    Galactose metabolism0.44
    galactose degradation I (Leloir pathway)0.00
    Galactose metabolism0.44
    Galactose catabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism
    colanic acid building blocks biosynthesis0.00
    4MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    5Prolactin Signaling Pathway
    Prolactin signaling pathway0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GALT
        Galactose metabolism

    2 BioSystems Pathways for GALT
        galactose degradation I (Leloir pathway)
    colanic acid building blocks biosynthesis


    1 Reactome Pathway for GALT
        Galactose catabolism


    4 Kegg Pathways  (Kegg details for GALT):
        Galactose metabolism
    Amino sugar and nucleotide sugar metabolism
    Metabolic pathways
    Prolactin signaling pathway

    UniProtKB/Swiss-Prot: GALT_HUMAN, P07902
    Pathway: Carbohydrate metabolism; galactose metabolism


    GALT for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GALT
    Interactions:

        GeneGlobe Interaction Network for GALT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GALT (P079023 ENSP000003681194) via UniProtKB, MINT, STRING, and/or I2D (see all 102)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLMHQ138673, ENSP000002617144I2D: score=1 STRING: ENSP00000261714
    UGP2Q168513, ENSP000003387034I2D: score=1 STRING: ENSP00000338703
    GALK2Q014153, ENSP000003797664I2D: score=2 STRING: ENSP00000379766
    TRIP13Q156453, ENSP000001663454I2D: score=4 STRING: ENSP00000166345
    PHGDHO431753I2D: score=5 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006012galactose metabolic process TAS1427861
    GO:0006258UDP-glucose catabolic process IEA--
    GO:0019388galactose catabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    GALT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GALT

    5 HMDB Compounds for GALT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Galactose 1-phosphate1-(dihydrogen phosphate) Galactitol (see all 14)2255-14-3--
    Glucose 1-phosphateCori ester (see all 22)59-56-3--
    IronArmco iron (see all 19)7439-89-6--
    Uridine diphosphate glucose(UPD)-glucose (see all 24)133-89-1--
    Uridine diphosphategalactoseGDU (see all 39)2956-16-3--

    Selected Novoseek inferred chemical compound relationships for GALT gene (see all 28)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    galactose-1-phosphate 98 189 8836578 (3), 11152465 (3), 1931160 (2), 17486650 (2) (see all 99)
    galactose 89.3 159 11152465 (5), 20075179 (4), 11936817 (4), 7671974 (3) (see all 73)
    udpglucose 84.4 44 16125333 (3), 20359473 (3), 15862277 (2), 16260165 (2) (see all 18)
    mannitol 60 6 10535394 (1), 11092512 (1), 12595586 (1), 18428423 (1) (see all 6)
    gluconate 59.8 3 9826225 (1), 9396569 (1), 14680973 (1)
    lactose 55.1 5 7671974 (1), 11936817 (1), 18454942 (1), 12370157 (1)
    asparagine 45.2 6 7671959 (1), 11936817 (1), 8198125 (1), 15835923 (1)
    ribose 32.2 2 12468275 (1)
    arginine 23.8 5 7671959 (1), 10037750 (1), 8598637 (1), 7927329 (1)
    n-acetylglucosamine 23.8 2 9011380 (1), 11485999 (1)



    GALT for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GALT gene (2 alternative transcripts): 
    NM_000155.3  NM_001258332.1  

    Unigene Cluster for GALT:

    Galactose-1-phosphate uridylyltransferase
    Hs.522090  [show with all ESTs]
    Unigene Representative Sequence: NM_000155
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000605275 ENST00000468099 ENST00000554550 ENST00000473506 ENST00000557541
    ENST00000554139 ENST00000473529 ENST00000378842(uc003zve.3 uc003zvf.3)
    ENST00000472111 ENST00000465543 ENST00000554897 ENST00000554944 ENST00000489643
    ENST00000555020 ENST00000554085 ENST00000487381 ENST00000554638 ENST00000555214

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    Additional mRNA sequence: 

    AK300070.1 AK303279.1 AK314340.1 BC015045.2 BT009852.1 M60091.1 

    Selected DOTS entries (see all 30):

    DT.416078  DT.97861985  DT.100818551  DT.40255414  DT.97861990  DT.437477  DT.100803373  DT.100818556 
    DT.121165496  DT.95246637  DT.100818549  DT.95246626  DT.121165438  DT.100766052  DT.100818557  DT.121165523 
    DT.100790062  DT.100818554  DT.121165542  DT.95246636  DT.100818548  DT.97793409  DT.100790054  DT.121165415 

    2 AceView cDNA sequences:

    AA357883 AI865549 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GALT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGGCTACG
    GALT Expression
    About this image

    GALT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522090
        Custom PCR Arrays for GALT
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GALT gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galt1 , 5 galactose-1-phosphate uridyl transferase1, 5 87.11(n)1
    91.6(a)1
      4 (22.07 cM)5
    144301  NM_016658.21  NP_057867.21 
     417552285 
    chicken
    (Gallus gallus)
    Aves GALT1 galactose-1-phosphate uridylyltransferase 73.04(n)
    76.23(a)
      431509  XM_429060.4  XP_429060.3 
    lizard
    (Anolis carolinensis)
    Reptilia GALT6
    galactose-1-phosphate uridylyltransferase
    71(a)
    1 ↔ 1
    GL343305.1(68102-97537)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.150332 Xenopus laevis transcribed sequence with weak similarity more 78.28(n)    BJ031226.1 
    zebrafish
    (Danio rerio)
    Actinopterygii galt1 galactose-1-phosphate uridylyltransferase 67.82(n)
    71.92(a)
      791130  NM_001080612.1  NP_001074081.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG92323
    Galt1
    UTP-galactose-1-phosphate
    uridylyltransferase3
    Galactose-1-phosphate uridylyltransferase1
    57(a)3
    59.77(n)1
    58.31(a)1
      26F53
    339351  NM_135218.31  NP_609062.21 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1058.31 , 3 galactose-1-phosphate
    uridylyltransferase3
    ZK1058.31
    49(a)3
    53.49(n)1
    51.2(a)1
      III(3990677-3992442)3
    1755061  NM_065388.41  NP_497789.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GAL7(YBR018C)4
    GAL71
    Galactose-1-phosphate uridyl transferase, synthesizes more4
    GAL71
    52.21(n)1
    48.38(a)1
      2(275527-274427)4
    8523061, 4  NP_009574.11, 4 


    ENSEMBL Gene Tree for GALT (if available)
    TreeFam Gene Tree for GALT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GALT (see all 491)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1110336901,2,,4
    C,FGalactosemia (GALCT)4 pathogenic134616341(+) CTGGTC/G/TGGATG 9 S W L mis11NA 4552
    rs753915791,2,,4
    C,FGalactosemia (GALCT)4 pathogenic134616653(+) CTGCCA/GGGTAA 6 Q R mis12Minor allele frequency- G:0.00NA EU 5865
    VAR_0233314
    Galactosemia (GALCT)4--see VAR_0233312 Q H mis40--------
    VAR_0026024
    Galactosemia (GALCT)4--see VAR_0026022 W R mis40--------
    VAR_0026164
    Galactosemia (GALCT)4--see VAR_0026162 H Q mis40--------
    VAR_0025654
    Galactosemia (GALCT)4--see VAR_0025652 R G mis40--------
    VAR_0025594
    Galactosemia (GALCT)4--see VAR_0025592 N S mis40--------
    VAR_0685504
    Galactosemia (GALCT)4--see VAR_0685502 I N mis40--------
    VAR_0026154
    Galactosemia (GALCT)4--see VAR_0026152 Q R mis40--------
    VAR_0688304
    Galactosemia (GALCT)4--see VAR_0688302 R L mis40--------

    HapMap Linkage Disequilibrium report for GALT (34638130 - 34651032 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GALT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv415912CNV Loss16902084
    nsv893038CNV Loss21882294
    nsv818699CNV Gain17921354
    nsv831544CNV Gain17160897

    Human Gene Mutation Database (HGMD): GALT
    Locus Specific Mutation Databases (LSDB): GALT

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606999   
    OMIM disorders: 230400  
    UniProtKB/Swiss-Prot: GALT_HUMAN, P07902
  • Galactosemia (GALCT) [MIM:230400]: Inherited disorder of galactose metabolism that causes jaundice,
    cataracts, and mental retardation. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for GALT (see all 24):    About MalaCards
    galactosemia    galactokinase deficiency    lens subluxation    epimerase deficiency galactosemia
    mayer-rokitansky-kuster-hauser syndrome    premature ovarian failure    endometriosis    hypotonia
    vaginitis    myopia    ovarian cancer    hypogonadism
    hepatoblastoma    cataract    diarrhea    sepsis
    infertility    hepatitis b    mental retardation    tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for GALT:
    Galactosemia     Premature ovarian failure

    GALT for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GALT gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    galactosemias 98.3 125 16540753 (4), 10649501 (3), 7671974 (3), 8421669 (3) (see all 79)
    classical galactosemia 96.8 18 9222760 (2), 9766850 (2), 10408771 (2), 7671959 (1) (see all 14)
    dyspraxia verbal 88.5 2 12595586 (1), 7671960 (1)
    gale deficiency 82.5 2 14970742 (1), 11001796 (1)
    galactokinase deficiency 73.3 2 12705493 (1)
    ovarian failure premature 72.3 5 11113841 (1), 15202737 (1), 18089596 (1), 8405535 (1) (see all 5)
    ovarian dysfunction 57 1 7671960 (1)
    cataract 52.9 16 14707519 (5), 18454942 (4), 8741038 (1), 8336207 (1) (see all 9)
    hepatomegaly 51 2 8598637 (1), 8326330 (1)
    developmental delay 40.7 1 7671974 (1)

    Genatlas disease: GALT
    galactosemia,type I,characterized by feeding difficulties,
    vomiting,lethargy,diarrhea,jaundice,hepatomegaly,failure to thrive and cataract with high levels of galactose and
    galactitol in urine despite dietary restriction,developmental delay,ovarian failure and other neurological and
    psychological abnormalities are common

    GeneTests: GALT
    GeneReviews: GALT
    Genetic Association Database (GAD): GALT
    Human Genome Epidemiology (HuGE) Navigator: GALT (27 documents)

    Export disorders for GALT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GALT gene, integrated from 10 sources (see all 227):
    (articles sorted by number of sources associating them with GALT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. (PubMed id 17876724)1, 2, 4, 9 Calderon F.R.... Mao R. (J. Inherit. Metab. Dis. 2007)
    2. Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test. (PubMed id 11919338)1, 2, 4, 9 Item C.... Strobl W. (Pediatr. Res. 2002)
    3. Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. (PubMed id 7887417)1, 2, 4 Fridovich-Keil J.L.... Elsas L.J. II (Am. J. Hum. Genet. 1995)
    4. Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. (PubMed id 7887416)1, 2, 9 Elsas L.J.... Dembure P.P. (Am. J. Hum. Genet. 1995)
    5. Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States). (PubMed id 11936817)1, 4, 9 Cozen W....Pike M.C. (amp 2002)
    6. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene. (PubMed id 10408771)1, 2, 9 Tyfield L.... Boleda M.D. (Hum. Mutat. 1999)
    7. On the molecular nature of the Duarte variant of galactose-1- phosphate uridyl transferase (GALT). (PubMed id 8112740)1, 2, 9 Lin H.-C.... Reichardt J.K.V. (Hum. Genet. 1994)
    8. Association of galactose-1-phosphate uridyltransferase activity and N314D genotype with the risk of ovarian cancer. (PubMed id 12370157)1, 4, 9 Goodman M.T....Ng W.G. (Am. J. Epidemiol. 2002)
    9. Endometriosis is not associated with or linked to the GALT gene. (PubMed id 11704127)1, 4, 9 Stefansson H....Stefansson K. (Fertil. Steril. 2001)
    10. Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. (PubMed id 10220154)1, 2, 9 Seyrantepe V.... Reichardt J.K.V. (Hum. Mutat. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2592 HGNC: 4135 AceView: GALT.2 Ensembl:ENSG00000213930 euGenes: HUgn2592
    ECgene: GALT Kegg: 2592 H-InvDB: GALT

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GALT Pharmacogenomics, SNPs, Pathways
    Galactose-1-Phosphate Uridyl Transferase (GALT)http://arup.utah.edu/database/GALT/GALT_welcome.php
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GALT[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GALT gene:
    Search GeneIP for patents involving GALT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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