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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 Galactose 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 CIViC summary , 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

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
GH09G034575 1 FANTOM5 ENCODE 26.1 -59.9 -59906 5.1 ZNF263 CTCF RNF2 SUZ12 CBX2 RBBP5 REST JUND ZFHX2 POLR2A GALT RPP25L ENSG00000230074 ENHO FAM219A ENSG00000232983 ARID3C CNTFR ENSG00000230729 SIGMAR1
GH09G034662 1.6 Ensembl ENCODE dbSUPER 16.1 +26.6 26630 5.0 HDGF HNRNPUL1 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ENSG00000230074 GALT RPP25L SIGMAR1 CCL27
GH09G034650 1.3 ENCODE dbSUPER 18.5 +15.1 15062 4.8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 KLF13 DEK GALT ENSG00000230074 IL11RA CCL27
GH09G034645 1.1 ENCODE 18.7 +9.1 9141 2.6 HDGF FOXA2 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 GALT PIGO DCTN3 ENSG00000228352 SIGMAR1 ENSG00000258728 IL11RA
GH09G034636 1.1 ENCODE 17.8 -0.3 -333 2.3 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 ZNF263 SP3 GALT ENSG00000230074 PIGO 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 ZNF263

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

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

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:0005515 protein binding IPI 25416956
GO:0008108 UDP-glucose:hexose-1-phosphate uridylyltransferase activity EXP 1897530
GO:0008270 zinc ion binding IEA --
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

COMPARTMENTS
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

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:0006012 galactose metabolic process TAS 1427861
GO:0006258 UDP-glucose catabolic process IEA --
GO:0019388 galactose catabolic process TAS --
GO:0033499 galactose catabolic process via UDP-galactose IEA --
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: 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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
2255-14-3
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
GALT
ECgene alternative splicing isoforms for
GALT

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:

GALT

SOURCE GeneReport for Unigene cluster for GALT Gene:

Hs.522090

Evidence on tissue expression from TISSUES for GALT Gene

  • Skin(4.3)
  • Nervous system(4)
  • Liver(2.4)
  • Blood(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • salivary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • 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
General:
  • 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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia GALT 34 35
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia GALT 34 35
  • 91.46 (n)
dog
(Canis familiaris)
Mammalia GALT 34 35
  • 90.94 (n)
mouse
(Mus musculus)
Mammalia Galt 34 16 35
  • 87.11 (n)
rat
(Rattus norvegicus)
Mammalia Galt 34
  • 86.28 (n)
oppossum
(Monodelphis domestica)
Mammalia GALT 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALT 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALT 34 35
  • 73.04 (n)
lizard
(Anolis carolinensis)
Reptilia GALT 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galt 34
  • 70.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15033 34
zebrafish
(Danio rerio)
Actinopterygii galt 34 35
  • 67.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004451 34
  • 60.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta Galt 34 35
  • 59.77 (n)
CG9232 36
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK1058.3 36 34 35
  • 53.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL7 34 35 37
  • 52.21 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08437g 34
  • 50 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04460 34
  • 55.83 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gal7 34
  • 47.18 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10216 34
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

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
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
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)

Relevant External Links for GALT Gene

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

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
galactosemia
  • galactosaemia
galactokinase deficiency with cataracts
  • galactokinase deficiency
duarte variant galactosemia
  • duarte galactosemia
vertebral artery occlusion
  • occlusion and stenosis of vertebral artery
galactose epimerase deficiency
  • galactosemia 3
- 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: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)
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 22 46 64
  2. 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 22 46 64
  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. (Clin. Biochem. 2008) 3 22 46 64
  4. Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age. (PMID: 18089596) Knauff E.A. … Bosch A.M. (Reprod Sci 2007) 3 22 46 64
  5. Mutational spectrum of classical galactosaemia in Spain and Portugal. (PMID: 17041746) Gort L. … Briones P. (J. Inherit. Metab. Dis. 2006) 3 4 22 64

Products for GALT Gene

  • Addgene plasmids for GALT

Sources for GALT Gene

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