GALT
Galactose-1-phosphate uridylyltransferase
Protein Summary
Plays an important role in galactose metabolism. 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]
- ENST00000378842
- ENSP00000368119
- ENSG00000213930
- ENST00000450095
- ENSP00000401956
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
disease perturbation | 0.97 | ||
transcription factor perturbation | 0.74 | ||
protein domain | 0.73 | ||
disease | 0.71 | ||
transcription factor binding site profile | 0.69 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 89.11 (req: < 5)
Gene RIFs: 49 (req: <= 3)
Antibodies: 307 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 89.11 (req: >= 5)
Gene RIFs: 49 (req: > 3)
Antibodies: 307 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 7
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (58)
UBTD2
Novelty: 0.19609399
p_int: 0.999999996
p_ni: 1e-9
p_wrong: 3e-9
Score: 0.261
Data Source: BioPlex,STRINGDB
NRBF2
Novelty: 0.02432243
p_int: 0.999999445
p_ni: 5.55e-7
Score: 0.211
Data Source: BioPlex,STRINGDB
ARPC3
Novelty: 0.02951522
p_int: 0.999981693
p_ni: 0.000018267
p_wrong: 4e-8
Score: 0.228
Data Source: BioPlex,STRINGDB
HLA-DQA1
Novelty: 0.00077488
p_int: 0.999652656
p_ni: 0.00018898
p_wrong: 0.000158364
Score: 0.228
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets (2)
Upstream (2)
1 – 2 of 2
Pathways (16)
Reactome (7)
KEGG (4)
PathwayCommons (4)
UniProt (1)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Defective GALT can cause Galactosemia | ||||
Reactome | Disease | ||||
Reactome | Diseases associated with glycosylation precursor biosynthesis | ||||
Reactome | Diseases of glycosylation | ||||
Reactome | Galactose catabolism | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Defective GALT can cause Galactosemia | ||||
Disease | ||||
Diseases associated with glycosylation precursor biosynthesis | ||||
Diseases of glycosylation | ||||
Galactose catabolism | ||||
Viral Interactions (0)
Gene Ontology Terms (9)
Functions (2)
Components (2)
Processes (5)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Disease Associations ()
GWAS Traits (5)
Items per page:
1 – 5 of 5
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
chemokine (C-C motif) ligand 27 measurement | 1 | 1 | 1 | 80.5 | |||||
7 | 3 | 2 | 1.1 | 77 | |||||
adolescent idiopathic scoliosis | 2 | 1 | 0 | 1.1 | 42.3 | ||||
testosterone measurement | 1 | 1 | 1 | 29 | |||||
self reported educational attainment | 1 | 1 | 1 | 7.6 | |||||
Items per page:
1 – 5 of 5
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
chemokine (C-C motif) ligand 27 measurement | 1 | 80.5 | |||||
2 | 1.1 | 77 | |||||
adolescent idiopathic scoliosis | 0 | 1.1 | 42.3 | ||||
testosterone measurement | 1 | 29 | |||||
self reported educational attainment | 1 | 7.6 | |||||
Find similar targets by:
IDG Resources
Orthologs (13)
1 – 5 of 13
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Mouse | MGI:95638 | 14430 | ||||||
Rat | RGD:1306483 | 298003 | ||||||
Dog | galactose-1-phosphate uridylyltransferase | VGNC:41103 | 474751 | |||||
Horse | galactose-1-phosphate uridylyltransferase | VGNC:18238 | 100068493 | |||||
Cow | galactose-1-phosphate uridylyltransferase | VGNC:29242 | 506997 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Mouse | ||||||
Rat | ||||||
Dog | galactose-1-phosphate uridylyltransferase | |||||
Horse | galactose-1-phosphate uridylyltransferase | |||||
Cow | galactose-1-phosphate uridylyltransferase | |||||
Publication Statistics
PubMed Score 89.11
PubMed score by year
PubTator Score 536.47
PubTator score by year
Related Publications
Text Mined References (110)
GeneRif Annotations (49)
Items per page:
0 of 0
PMID | Year | Title |
|---|