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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 2.7.7.12 4

External Ids for GALT Gene

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 lens subluxation. Among its related pathways are Metabolism and 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

Genomic Location for GALT Gene

Start:
34,638,133 bp from pter
End:
34,651,035 bp from pter
Size:
12,903 bases
Orientation:
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

Regulatory Elements for GALT Gene

Proteins for GALT Gene

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

    Protein Symbol:
    P07902-GALT_HUMAN
    Recommended name:
    Galactose-1-phosphate uridylyltransferase
    Protein Accession:
    P07902
    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

    Size:
    379 amino acids
    Molecular mass:
    43363 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875; Note=Binds 1 Fe cation per subunit.;
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

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

Other Protein References for GALT Gene

No data available for DME Specific Peptides for GALT Gene

Domains for GALT Gene

UniProtKB/Swiss-Prot:

GALT_HUMAN
Family:
  • Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.:
    • P07902
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

Phenotypes for GALT Gene

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

Animal Models for GALT Gene

MGI Knock Outs for GALT:

miRNA for GALT Gene

miRTarBase miRNAs that target GALT

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

Localization for GALT Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GALT Gene COMPARTMENTS Subcellular localization image for GALT gene
Compartment Confidence
golgi apparatus 5
cytosol 4
nucleus 2
extracellular 1

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

Pathways for GALT Gene

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

Pathways by source for GALT Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway 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

Compounds for GALT Gene

(5) HMDB Compounds for GALT Gene

Compound Synonyms Cas Number PubMed IDs
Galactose 1-phosphate
  • 1-(dihydrogen phosphate) Galactitol
2255-14-3
Glucose 1-phosphate
  • Cori ester
59-56-3
Iron
  • Armco iron
7439-89-6
Uridine diphosphate glucose
  • (UPD)-glucose
133-89-1
Uridine diphosphategalactose
  • GDU
2956-16-3

(28) Novoseek inferred chemical compound relationships for GALT Gene

Compound -log(P) Hits PubMed IDs
galactose-1-phosphate 98 132
galactose 89.3 114
udpglucose 84.4 24
mannitol 60 6
gluconate 59.8 3
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:

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

No ASD Table

Relevant External Links for GALT Gene

GeneLoc Exon Structure for
GALT
ECgene alternative splicing isoforms for
GALT

Expression for GALT Gene

mRNA expression in normal human tissues for GALT Gene

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

This gene is overexpressed in Liver (4.4).

Integrated Proteomics: protein expression 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 expressions with GALT: view

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
chimpanzee
(Pan troglodytes)
Mammalia GALT 36
  • 99.3 (n)
  • 99.21 (a)
GALT 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GALT 36
  • 91.46 (n)
  • 92.76 (a)
GALT 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALT 36
  • 90.94 (n)
  • 92.88 (a)
GALT 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galt 36
  • 87.11 (n)
  • 91.6 (a)
Galt 16
Galt 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALT 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALT 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galt 36
  • 86.28 (n)
  • 88.92 (a)
chicken
(Gallus gallus)
Aves GALT 36
  • 73.04 (n)
  • 76.23 (a)
GALT 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALT 37
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15033 36
tropical clawed frog
(Silurana tropicalis)
Amphibia galt 36
  • 70.83 (n)
  • 75.42 (a)
zebrafish
(Danio rerio)
Actinopterygii galt 36
  • 67.82 (n)
  • 71.92 (a)
galt 37
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004451 36
  • 60.65 (n)
  • 59.17 (a)
fruit fly
(Drosophila melanogaster)
Insecta Galt 36
  • 59.77 (n)
  • 58.31 (a)
Galt 37
  • 56 (a)
OneToOne
CG9232 38
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK1058.3 36
  • 53.49 (n)
  • 51.2 (a)
ZK1058.3 37
  • 49 (a)
OneToOne
ZK1058.3 38
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL7 36
  • 52.21 (n)
  • 48.38 (a)
GAL7 37
  • 44 (a)
OneToOne
GAL7 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08437g 36
  • 50 (n)
  • 48.87 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04460 36
  • 55.83 (n)
  • 51.37 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gal7 36
  • 47.18 (n)
  • 47.48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10216 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 61 (a)
OneToOne
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

ENSEMBL:
Gene Tree for GALT (if available)
TreeFam:
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 34,649,053(+) GAGAC(A/G)TCCTT synonymous-codon, reference
rs1800461 Benign, - 34,647,190(+) AGCTT(A/C)TGAAG missense, reference, utr-variant-5-prime
rs2070074 Pathogenic, - 34,649,445(+) ACTGG(A/G)ACCAT reference, missense
rs2070075 Pathogenic 34,648,421(+) CCCTG(C/G/T)TAATG missense, 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

Relevant External Links for GALT Gene

HapMap Linkage Disequilibrium report
GALT
Human Gene Mutation Database (HGMD)
GALT
Locus Specific Mutation Databases (LSDB)
GALT

Disorders for GALT Gene

(1) OMIM Diseases for GALT Gene (606999)

UniProtKB/Swiss-Prot

GALT_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for GALT Gene

(17) Novoseek inferred disease relationships for GALT Gene

Disease -log(P) Hits PubMed IDs
galactosemias 98.3 99
classical galactosemia 96.8 17
dyspraxia verbal 88.5 2
gale deficiency 82.5 2
galactokinase deficiency 73.3 1

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

GeneTests
GALT
GeneReviews
GALT
Genetic Association Database (GAD)
GALT
Human Genome Epidemiology (HuGE) Navigator
GALT
genes like me logo Genes that share disorders with GALT: view

Publications for GALT Gene

  1. Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test. (PMID: 11919338) Item C. … Strobl W. (Pediatr. Res. 2002) 3 4 23 49
  2. Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. (PMID: 17876724) Calderon F.R. … Mao R. (J. Inherit. Metab. Dis. 2007) 3 4 23 49
  3. Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. (PMID: 7887417) Fridovich-Keil J.L. … Elsas L.J. II (Am. J. Hum. Genet. 1995) 3 4 49
  4. Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States). (PMID: 11936817) Cozen W. … Pike M.C. (Cancer Causes Control 2002) 3 23 49
  5. Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population. (PMID: 12521227) Lukac-Bajalo J. … Battelino T. (Clin. Chem. Lab. Med. 2002) 3 23 49

Products for GALT Gene

  • Addgene plasmids for GALT

Sources for GALT Gene

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