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Aliases for GALT Gene

Aliases for GALT Gene

  • Galactose-1-Phosphate Uridylyltransferase 2 3 3 5
  • UDP-Glucose--Hexose-1-Phosphate Uridylyltransferase 3 4
  • Gal-1-P Uridylyltransferase 3 4
  • Galactose-1-Phosphate Uridyl Transferase 3
  • 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. Among its related pathways are Galactose metabolism and Metabolism. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for GALT Gene

Promoters and enhancers for GALT Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J034645 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 668.6 +9.1 9140 2.6 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ZNF213 GALT IL11RA ENSG00000258728 PIGO DCTN3 ENSG00000228352 SIGMAR1
GH09J034636 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 667.8 -0.3 -333 2.3 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 KLF13 SP3 GALT SIGMAR1 PIGO ENSG00000228352 ENSG00000230074 ARID3C
GH09J034650 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 18.5 +15.1 15061 4.8 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B IL11RA GALT ENSG00000230074 ENSG00000258728 CCL27
GH09J034662 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 16.1 +26.6 26629 5 HNRNPUL1 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 POLR2B E2F8 ENSG00000230074 LOC730098 ENSG00000261215 CCL27 PHF24 GALT ENSG00000228352 RPP25L ENSG00000231393 SIGMAR1
GH09J034610 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.1 -26.0 -26025 2.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF48 YY1 POLR2B RPP25L GALT SIGMAR1 CNTFR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GALT gene promoter:
  • AP-1
  • p53
  • ITF-2
  • USF-1
  • USF1

Regulatory Element Products

Genomic Locations for GALT Gene

Genomic Locations for GALT Gene
12,903 bases
Plus strand
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

UniProtKB/Swiss-Prot Function:
Plays an important role in galactose metabolism.
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 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};
GENATLAS Biochemistry:
galactose-1-phosphate uridyltransferase

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 16189514
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

(20) Drugs for GALT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine diphosphate glucose Experimental Pharma Target 0
Uridine 5'-diphosphate Experimental Pharma Target 0
Uridine monophosphate Experimental Pharma Target 0
Glucose 1-phosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
Galactose 1-phosphate
  • 1-O-phosphono-D-Glucopyranose
  • Cori ester
  • D-Glucose 1-phosphate
  • GLC-1-P
  • Glucose 1-phosphoric acid
genes like me logo Genes that share compounds with GALT: view

Transcripts for GALT Gene

mRNA/cDNA for GALT Gene

Unigene Clusters for GALT Gene

Galactose-1-phosphate uridylyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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, 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)
  • 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 34 33
  • 99.3 (n)
(Bos Taurus)
Mammalia GALT 34 33
  • 91.46 (n)
(Canis familiaris)
Mammalia GALT 34 33
  • 90.94 (n)
(Mus musculus)
Mammalia Galt 16 34 33
  • 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 34 33
  • 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 34 33
  • 67.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004451 33
  • 60.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta Galt 34 33
  • 59.77 (n)
CG9232 35
  • 57 (a)
(Caenorhabditis elegans)
Secernentea ZK1058.3 34 35 33
  • 53.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL7 36 34 33
  • 52.21 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08437g 33
  • 50 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
Cin.10216 33
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)
Evolutionary constrained regions (ECRs) for GALT: view image

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 Variation AA Info Type
rs1055607 benign, likely-benign, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not specified, Galactosemia 34,649,053(+) G/A coding_sequence_variant, synonymous_variant
rs1057516720 likely-pathogenic, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 34,648,396(+) T/A coding_sequence_variant, stop_gained
rs1057516883 likely-pathogenic, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 34,648,438(+) CC/C coding_sequence_variant, frameshift
rs1057517415 likely-pathogenic, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 34,647,087(+) A/G splice_acceptor_variant
rs111033633 benign, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 34,646,737(+) C/T 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant

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

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

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)

Additional Variant Information for GALT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GALT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
  • galactose-1-phosphate uridylyltransferase deficiency
galactokinase deficiency
  • galk deficiency
galactose epimerase deficiency
  • gale deficiency
vertebral artery occlusion
  • occlusion and stenosis of vertebral artery
epimerase deficiency galactosemia
  • gale 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

Additional Disease Information for GALT

Genetic Association Database
Human Genome Epidemiology 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 44 58
  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 44 58
  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 44 58
  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 44 58
  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 58

Products for GALT Gene

Sources for GALT Gene

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