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Aliases for GALT Gene

Aliases for GALT Gene

  • Galactose-1-Phosphate Uridylyltransferase 2 3
  • UDP-Glucose--Hexose-1-Phosphate Uridylyltransferase 4
  • Gal-1-P Uridylyltransferase 4
  • EC 4

External Ids for GALT Gene

Previous GeneCards Identifiers for GALT Gene

  • GC09P034958
  • GC09P034816

Summaries for GALT Gene

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 duarte variant galactosemia. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include UDP-glucose:hexose-1-phosphate uridylyltransferase activity.

Gene Wiki entry for GALT Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALT Gene

Genomics for GALT Gene

Regulatory Elements for GALT Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GALT Gene

34,638,133 bp from pter
34,651,035 bp from pter
12,903 bases
Plus strand

Genomic View for GALT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GALT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALT Gene

Proteins for GALT Gene

  • Protein details for GALT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Galactose-1-phosphate uridylyltransferase
    Protein Accession:
    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

    Protein attributes for GALT Gene

    379 amino acids
    Molecular mass:
    43363 Da
    Name=Fe cation; Xref=ChEBI:CHEBI:24875; Note=Binds 1 Fe cation per subunit.;
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GALT Gene

    Alternative splice isoforms for GALT Gene


neXtProt entry for GALT Gene

Proteomics data for GALT Gene at MOPED

Post-translational modifications for GALT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for GALT Gene

Domains & Families for GALT Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.
  • Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.
genes like me logo Genes that share domains with GALT: view

No data available for Gene Families for GALT Gene

Function for GALT Gene

Molecular function for GALT Gene

GENATLAS Biochemistry:
galactose-1-phosphate uridyltransferase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.25 mM for alpha-D-galactose 1-phosphate (at pH 8.7) {ECO:0000269 PubMed:22461411}; KM=0.43 mM for UDP-glucose (at pH 8.7) {ECO:0000269 PubMed:22461411}; Vmax=48 umol/min/mg enzyme {ECO:0000269 PubMed:22461411};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose

Enzyme Numbers (IUBMB) for GALT Gene

Gene Ontology (GO) - Molecular Function for GALT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0005515 protein binding IPI 25416956
GO:0008108 UDP-glucose:hexose-1-phosphate uridylyltransferase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with GALT: view
genes like me logo Genes that share phenotypes with GALT: view

Animal Models for GALT Gene

MGI Knock Outs for GALT:

Animal Model Products

miRNA for GALT Gene

miRTarBase miRNAs that target GALT

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GALT

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for GALT Gene

Localization for GALT Gene

Subcellular locations from

Jensen Localization Image for GALT Gene COMPARTMENTS Subcellular localization image for GALT gene
Compartment Confidence
golgi apparatus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for GALT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 20605918
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GALT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GALT Gene

Pathways & Interactions for GALT Gene

genes like me logo Genes that share pathways with GALT: view

Pathways by source for GALT Gene

1 BioSystems pathway for GALT Gene
3 Reactome pathways for GALT Gene

UniProtKB/Swiss-Prot P07902-GALT_HUMAN

  • Pathway: Carbohydrate metabolism; galactose metabolism

Gene Ontology (GO) - Biological Process for GALT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006012 galactose metabolic process TAS 1427861
GO:0006258 UDP-glucose catabolic process IEA --
GO:0019388 galactose catabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with GALT: view

No data available for SIGNOR curated interactions for GALT Gene

Drugs & Compounds for GALT Gene

(16) Drugs for GALT Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estradiol Approved, Investigational Pharma Sex hormone 1057
Iron Approved Pharma 957
Mannitol Approved, Investigational Pharma 220
Zinc Approved Pharma 1404
Galactose 1-phosphate Experimental Pharma 0

(17) Additional Compounds for GALT Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
Uridine diphosphate glucose
  • (UDP)glucose
  • (UPD)-glucose
  • UDP Glucose
  • UDP-a-D-Glucose
  • UDP-alpha-D-Glucose
genes like me logo Genes that share compounds with GALT: view

Transcripts for GALT Gene

mRNA/cDNA for GALT Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(29) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GALT Gene

Galactose-1-phosphate uridylyltransferase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GALT

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALT Gene

No ASD Table

Relevant External Links for GALT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GALT Gene

mRNA expression in normal human tissues for GALT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALT Gene

This gene is overexpressed in Liver (x4.4).

Protein differential expression in normal tissues from HIPED for GALT Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GALT Gene

SOURCE GeneReport for Unigene cluster for GALT Gene Hs.522090

genes like me logo Genes that share expression patterns with GALT: view

Protein tissue co-expression partners for GALT Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GALT Gene

Orthologs for GALT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GALT Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GALT 35
  • 91.46 (n)
  • 92.76 (a)
  • 93 (a)
(Canis familiaris)
Mammalia GALT 35
  • 90.94 (n)
  • 92.88 (a)
  • 93 (a)
(Mus musculus)
Mammalia Galt 35
  • 87.11 (n)
  • 91.6 (a)
Galt 16
Galt 36
  • 91 (a)
(Pan troglodytes)
Mammalia GALT 35
  • 99.3 (n)
  • 99.21 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Galt 35
  • 86.28 (n)
  • 88.92 (a)
(Monodelphis domestica)
Mammalia GALT 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia GALT 36
  • 81 (a)
(Gallus gallus)
Aves GALT 35
  • 73.04 (n)
  • 76.23 (a)
  • 74 (a)
(Anolis carolinensis)
Reptilia GALT 36
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia galt 35
  • 70.83 (n)
  • 75.42 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15033 35
(Danio rerio)
Actinopterygii galt 35
  • 67.82 (n)
  • 71.92 (a)
galt 36
  • 69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9232 37
  • 57 (a)
Galt 35
  • 59.77 (n)
  • 58.31 (a)
Galt 36
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004451 35
  • 60.65 (n)
  • 59.17 (a)
(Caenorhabditis elegans)
Secernentea ZK1058.3 37
  • 49 (a)
ZK1058.3 35
  • 53.49 (n)
  • 51.2 (a)
ZK1058.3 36
  • 49 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08437g 35
  • 50 (n)
  • 48.87 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL7 35
  • 52.21 (n)
  • 48.38 (a)
GAL7 36
  • 44 (a)
GAL7 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10216 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04460 35
  • 55.83 (n)
  • 51.37 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gal7 35
  • 47.18 (n)
  • 47.48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
Species with no ortholog for GALT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALT Gene

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

Paralogs for GALT Gene

No data available for Paralogs for GALT Gene

Variants for GALT Gene

Sequence variations from dbSNP and Humsavar for GALT Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1007618 -- 34,646,920(+) GGCCT(C/G)TACGA intron-variant
rs1055607 Benign, Benign 34,649,053(+) GAGAC(A/G)TCCTT synonymous-codon, reference
rs1800461 Benign, Benign, - 34,647,190(+) AGCTT(A/C)TGAAG missense, reference, utr-variant-5-prime
rs2070074 Pathogenic, Pathogenic, Galactosemia (GALCT) 34,649,445(+) ACTGG(A/G)ACCAT reference, missense
rs2070075 Pathogenic, Pathogenic 34,648,421(+) CCCTG(C/G/T)TAATG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for GALT Gene

Variant ID Type Subtype PubMed ID
nsv893038 CNV Loss 21882294
nsv818699 CNV Gain 17921354
nsv415912 CNV Loss 16902084
nsv831544 CNV Gain 17160897

Variation tolerance for GALT Gene

Residual Variation Intolerance Score: 23.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.68; 65.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALT Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALT Gene

Disorders for GALT Gene

MalaCards: The human disease database

(12) MalaCards diseases for GALT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
  • galactose intolerance
duarte variant galactosemia
  • duarte galactosemia
galactokinase deficiency with cataracts
  • galactokinase deficiency
mayer-rokitansky-kuster-hauser syndrome
  • cauv
epimerase deficiency galactosemia
  • galactose epimerase deficiency
- elite association
Search GALT in MalaCards View complete list of genes associated with diseases


  • Galactosemia (GALCT) [MIM:230400]: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation. {ECO:0000269 PubMed:10220154, ECO:0000269 PubMed:11754113, ECO:0000269 PubMed:11919338, ECO:0000269 PubMed:1373122, ECO:0000269 PubMed:1427861, ECO:0000269 PubMed:15841485, ECO:0000269 PubMed:1610789, ECO:0000269 PubMed:17041746, ECO:0000269 PubMed:17876724, ECO:0000269 PubMed:18956253, ECO:0000269 PubMed:1897530, ECO:0000269 PubMed:2011574, ECO:0000269 PubMed:22461411, ECO:0000269 PubMed:23022339, ECO:0000269 PubMed:25592817, ECO:0000269 PubMed:25614870, ECO:0000269 PubMed:7550229, ECO:0000269 PubMed:7887416, ECO:0000269 PubMed:7887417, ECO:0000269 PubMed:8499924, ECO:0000269 PubMed:8598637, ECO:0000269 PubMed:8741038, ECO:0000269 PubMed:8869397, ECO:0000269 PubMed:8956044, ECO:0000269 PubMed:9222760}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GALT Gene

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

Relevant External Links for GALT

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GALT: view

Publications for GALT Gene

  1. Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach. (PMID: 20075179) Freer D.E. … Finegold D. (Clin. Chem. 2010) 23 67
  2. Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry. (PMID: 20348403) Li Y. … Berry G.T. (Clin. Chem. 2010) 23 67
  3. The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations. (PMID: 19639008) Flanagan J.M. … Croke D.T. (Heredity (Edinb) 2010) 23 67
  4. Direct non-radioactive assay of galactose-1-phosphate:uridyltransferase activity using high performance liquid chromatography. (PMID: 20359473) Lindhout M. … Bierau J. (Clin. Chim. Acta 2010) 23 67
  5. An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families. (PMID: 19375122) Gort L. … Briones P. (Med Clin (Barc) 2009) 23 67

Products for GALT Gene

Sources for GALT Gene

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