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Aliases for GALT Gene

Aliases for GALT Gene

  • Galactose-1-Phosphate Uridylyltransferase 2 3 5
  • 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 Galactokinase Deficiency With Cataracts. Among its related pathways are Metabolism and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include UDP-glucose:hexose-1-phosphate uridylyltransferase activity.

UniProtKB/Swiss-Prot for GALT Gene

  • Plays an important role in galactose metabolism.

Gene Wiki entry for GALT Gene

Additional gene information for GALT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALT Gene

Genomics for GALT Gene

Regulatory Elements for GALT Gene

Enhancers for GALT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H034662 1.6 Ensembl ENCODE dbSUPER 16.1 +26.6 26630 5 HNRNPUL1 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 SP3 ENSG00000230074 GALT ENSG00000228352 RPP25L ENSG00000231393 SIGMAR1 CCL27
GH09H034650 1.3 ENCODE dbSUPER 18.5 +15.1 15062 4.8 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 GALT ENSG00000230074 IL11RA CCL27
GH09H034575 0.9 FANTOM5 ENCODE 26.1 -59.9 -59906 5.1 REST JUND ZFHX2 ZNF366 POLR2A ZNF341 EGR2 EZH2 GALT RPP25L ENSG00000230074 ENHO FAM219A ENSG00000232983 ARID3C CNTFR ENSG00000230729 SIGMAR1
GH09H034645 1.1 ENCODE 18.6 +9.1 9141 2.6 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 GALT PIGO DCTN3 ENSG00000228352 SIGMAR1 IL11RA ENSG00000258728
GH09H034636 1.1 ENCODE 17.8 -0.3 -333 2.3 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3 SP5 PIGO GALT ENSG00000228352 ENSG00000230074 SIGMAR1 ARID3C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GALT on UCSC Golden Path with GeneCards custom track

Promoters for GALT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234562 -333 1201 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3

Genomic Locations for GALT Gene

Genomic Locations for GALT Gene
12,903 bases
Plus strand

Genomic View for GALT Gene

Genes around GALT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GALT Gene

    Alternative splice isoforms for GALT Gene


neXtProt entry for GALT Gene

Post-translational modifications for GALT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GALT Gene

Domains & Families for GALT Gene

Gene Families for GALT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

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.
UniProtKB/Swiss-Prot Function:
Plays an important role in galactose metabolism.

Enzyme Numbers (IUBMB) for GALT Gene

Phenotypes From GWAS Catalog for GALT Gene

Gene Ontology (GO) - Molecular Function for GALT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008108 UDP-glucose:hexose-1-phosphate uridylyltransferase activity EXP,IDA 27005423
GO:0008270 zinc ion binding IDA 27005423
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with GALT: view
genes like me logo Genes that share phenotypes with GALT: view

Human Phenotype Ontology for GALT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GALT Gene

MGI Knock Outs for GALT:

Animal Model Products

CRISPR Products

miRNA for GALT Gene

miRTarBase miRNAs that target GALT

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GALT

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

Localization for GALT Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALT gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA --
GO:0006011 UDP-glucose metabolic process IDA 27005423
GO:0006012 galactose metabolic process TAS,IDA 27005423
GO:0006258 UDP-glucose catabolic process IEA --
GO:0019388 galactose catabolic 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

(18) Drugs for GALT Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glucose 1-phosphate Experimental Pharma 0
Uridine diphosphate glucose Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0

(15) Additional Compounds for GALT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
Galactose 1-phosphate
  • 1-(Dihydrogen phosphate) Galactitol
  • 1-Phosphate a-D-Galactopyranose
  • a-D-1-(Dihydrogen phosphate) Galactopyranose
  • a-D-Galactopyranosyl phosphate
  • a-D-Galactose 1-phosphate
genes like me logo Genes that share compounds with GALT: view

Transcripts for GALT Gene

Unigene Clusters for GALT Gene

Galactose-1-phosphate uridylyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GALT

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GALT Gene

Protein tissue co-expression partners for GALT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GALT Gene:


SOURCE GeneReport for Unigene cluster for GALT Gene:


Evidence on tissue expression from TISSUES for GALT Gene

  • Skin(4.3)
  • Nervous system(4.1)
  • Liver(2.3)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GALT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • salivary gland
  • skull
  • vocal cord
  • breast
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GALT: view

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
(Pan troglodytes)
Mammalia GALT 33 34
  • 99.3 (n)
(Bos Taurus)
Mammalia GALT 33 34
  • 91.46 (n)
(Canis familiaris)
Mammalia GALT 33 34
  • 90.94 (n)
(Mus musculus)
Mammalia Galt 33 16 34
  • 87.11 (n)
(Rattus norvegicus)
Mammalia Galt 33
  • 86.28 (n)
(Monodelphis domestica)
Mammalia GALT 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia GALT 34
  • 81 (a)
(Gallus gallus)
Aves GALT 33 34
  • 73.04 (n)
(Anolis carolinensis)
Reptilia GALT 34
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia galt 33
  • 70.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15033 33
(Danio rerio)
Actinopterygii galt 33 34
  • 67.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004451 33
  • 60.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta Galt 33 34
  • 59.77 (n)
CG9232 35
  • 57 (a)
(Caenorhabditis elegans)
Secernentea ZK1058.3 35 33 34
  • 53.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL7 33 34 36
  • 52.21 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08437g 33
  • 50 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04460 33
  • 55.83 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gal7 33
  • 47.18 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10216 33
Species where no ortholog for GALT was found in the sources mined by GeneCards:
  • 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
rs111033635 Pathogenic, Galactosemia (GALCT) [MIM:230400] 34,646,771(+) CAGCA(A/G)CCTTC reference, missense, utr-variant-5-prime
rs111033636 Pathogenic, Galactosemia (GALCT) [MIM:230400], Galactosemia (GALCT) [MIM:230400] 34,646,786(+) CAAAC(A/C/G/T)GTAAC reference, missense, utr-variant-5-prime
rs111033637 Pathogenic, Galactosemia (GALCT) [MIM:230400] 34,646,731(+) CCTCA(C/G)CAACG reference, missense, utr-variant-5-prime
rs111033644 Pathogenic, Galactosemia (GALCT) [MIM:230400] 34,647,101(+) GCATA(A/T)CCGCT reference, missense, utr-variant-5-prime
rs111033646 Pathogenic, Galactosemia (GALCT) [MIM:230400] 34,647,119(+) GCTGC(A/C)GGATG reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv831544 CNV gain 17160897
nsv818699 CNV gain 17921354
nsv415912 CNV deletion 16902084
nsv1161857 CNV deletion 26073780
nsv1125318 OTHER inversion 24896259
esv3620335 CNV gain 21293372
dgv12659n54 CNV loss 21841781

Variation tolerance for GALT Gene

Residual Variation Intolerance Score: 23.5% 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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for GALT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
  • galactose epimerase deficiency
galactokinase deficiency with cataracts
  • galactokinase deficiency
galactose epimerase deficiency
  • epimerase deficiency galactosemia
vertebral artery occlusion
  • occlusion and stenosis of vertebral artery
epimerase deficiency galactosemia
  • galactose epimerase deficiency
- elite association - COSMIC cancer census association via MalaCards
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:27005423, ECO:0000269 PubMed:7550229, ECO:0000269 PubMed:7887416, ECO:0000269 PubMed:7887417, ECO:0000269 PubMed:8112740, 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. Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. (PMID: 17876724) Calderon FR … Mao R (Journal of inherited metabolic disease 2007) 3 4 22 45 60
  2. Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test. (PMID: 11919338) Item C … Strobl W (Pediatric research 2002) 3 4 22 45 60
  3. Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation. (PMID: 18454942) Karas-Kuzelicki N … Lukac-Bajalo J (Clinical biochemistry 2008) 3 22 45 60
  4. Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age. (PMID: 18089596) Knauff EA … Bosch AM (Reproductive sciences (Thousand Oaks, Calif.) 2007) 3 22 45 60
  5. Mutational spectrum of classical galactosaemia in Spain and Portugal. (PMID: 17041746) Gort L … Briones P (Journal of inherited metabolic disease 2006) 3 4 22 60

Products for GALT Gene

  • Addgene plasmids for GALT

Sources for GALT Gene

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