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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 2.7.7.12 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 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

Genomic Location for GALT Gene

Chromosome:
9
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

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:
    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;
    Cofactor:
    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

    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

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

P07902

UniProtKB/Swiss-Prot:

GALT_HUMAN :
  • Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.
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:0008108 UDP-glucose:hexose-1-phosphate uridylyltransferase activity EXP,IEA 1897530
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

miRNA for GALT Gene

miRTarBase miRNAs that target GALT

Inhibitory RNA Products

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

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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: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
Galactose 1-phosphate Experimental Pharma 0
Glucose 1-phosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Uridine diphosphate glucose
  • (UDP)glucose
  • (UPD)-glucose
  • UDP Glucose
  • UDP-a-D-Glucose
  • UDP-alpha-D-Glucose
133-89-1
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:

Inhibitory RNA Products

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
GALT
ECgene alternative splicing isoforms for
GALT

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

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
cow
(Bos Taurus)
Mammalia GALT 35
  • 91.46 (n)
  • 92.76 (a)
GALT 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALT 35
  • 90.94 (n)
  • 92.88 (a)
GALT 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galt 35
  • 87.11 (n)
  • 91.6 (a)
Galt 16
Galt 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GALT 35
  • 99.3 (n)
  • 99.21 (a)
GALT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galt 35
  • 86.28 (n)
  • 88.92 (a)
oppossum
(Monodelphis domestica)
Mammalia GALT 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALT 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALT 35
  • 73.04 (n)
  • 76.23 (a)
GALT 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALT 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galt 35
  • 70.83 (n)
  • 75.42 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15033 35
zebrafish
(Danio rerio)
Actinopterygii galt 35
  • 67.82 (n)
  • 71.92 (a)
galt 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9232 37
  • 57 (a)
Galt 35
  • 59.77 (n)
  • 58.31 (a)
Galt 36
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004451 35
  • 60.65 (n)
  • 59.17 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK1058.3 37
  • 49 (a)
ZK1058.3 35
  • 53.49 (n)
  • 51.2 (a)
ZK1058.3 36
  • 49 (a)
OneToOne
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)
OneToOne
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)
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
VAR_002548 Galactosemia (GALCT)
VAR_002549 Galactosemia (GALCT)
VAR_002550 Galactosemia (GALCT)
VAR_002551 Galactosemia (GALCT)
VAR_002552 Galactosemia (GALCT)

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: 23.5% 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

HapMap Linkage Disequilibrium report
GALT
Human Gene Mutation Database (HGMD)
GALT

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

Disorders for GALT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
galactosemia
  • galactose epimerase deficiency
galactokinase deficiency with cataracts
  • galactokinase deficiency
carbohydrate metabolic disorder
  • disorder of carbohydrate transport and metabolism
duarte variant galactosemia
  • duarte galactosemia
galactose epimerase deficiency
  • udp galactose-4-epimerase
- elite association - COSMIC cancer census association via MalaCards
Search GALT in MalaCards View complete list of genes associated with diseases

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.

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)
GALT
Human Genome Epidemiology (HuGE) Navigator
GALT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALT
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 F.R. … Mao R. (J. Inherit. Metab. Dis. 2007) 3 4 23 48 67
  2. Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. (PMID: 19224951) Carney A.E. … Fridovich-Keil J.L. (Hum. Mol. Genet. 2009) 3 23
  3. Galactose-1-phosphate uridyl transferase deficiency is not associated with MA1llerian aplasia in Dutch patients. (PMID: 19646668) Nijland R. … Willemsen W.N. (J Pediatr Adolesc Gynecol 2009) 3 23
  4. A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family. (PMID: 18210213) Chhay J.S. … Fridovich-Keil J.L. (J. Inherit. Metab. Dis. 2008) 3 23
  5. 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. (Clin. Biochem. 2008) 3 23

Products for GALT Gene

Sources for GALT Gene

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