GALT - galactose-1-phosphate uridylyltransferase Gene
Species: Homo sapiens
About GALT
This gene has 29 transcripts (splice variants), 168 orthologues and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 23.8), liver (RPKM 21.4) and 25 other tissues.
Summary
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]
GALT Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000155.4 | NP_000146.2 | galactose-1-phosphate uridylyltransferase isoform 1 |
| NM_001258332.2 | NP_001245261.1 | galactose-1-phosphate uridylyltransferase isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity |
EXP
EXP: Inferred from Experiment
|
1897530 | GOA |
| enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity |
IDA
IDA: Inferred from direct assay
|
27005423 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
| enables zinc ion binding |
IDA
IDA: Inferred from direct assay
|
27005423 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in UDP-glucose metabolic process |
IDA
IDA: Inferred from direct assay
|
27005423 | GOA |
| involved in galactose metabolic process |
IDA
IDA: Inferred from direct assay
|
27005423 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
20605918 | GOA |
GALT Protein Structure
GalP_UDP_transf: Galactose-1-phosphate uridyl transferase, N-terminal domain (23 - 196)
GalP_UDP_tr_C: Galactose-1-phosphate uridyl transferase, C-terminal domain (203 - 368)
- 0
- 100
- 200
- 300
- 379 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
galactose-1-phosphate uridylyltransferase |
|
GALT Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GALT | P07902 | GRPEL1 | Homo sapiens | Q9HAV7 | 32296183 | |
|
Intra
|
GALT | P07902 | KRTAP6-2 | Homo sapiens | Q3LI66 | 32296183 | |
|
Intra
|
GALT | P07902 | KRTAP6-2 | Homo sapiens | Q3LI66 | 32296183 | |
|
Intra
|
GALT | P07902 | KRTAP6-2 | Homo sapiens | Q3LI66 | 32296183 | |
|
Intra
|
GALT | P07902 | TNK2 | Homo sapiens | Q07912-2 | 25910212 | |
|
Intra
|
GALT | P07902 | TNK2 | Homo sapiens | Q07912-2 | 25910212 | |
|
Intra
|
GALT | P07902 | TNK2 | Homo sapiens | Q07912-2 | 25910212 | |
|
Intra
|
GALT | P07902 | UBTD2 | Homo sapiens | Q8WUN7 | 32296183 | |
|
Intra
|
GALT | P07902 | UBTD2 | Homo sapiens | Q8WUN7 | 32296183 | |
|
Intra
|
GALT | P07902 | UBTD2 | Homo sapiens | Q8WUN7 | 32296183 | |
|
Intra
|
GALT | P07902 | TRIP13 | Homo sapiens | Q15645 | 26871637 | |
|
Intra
|
GALT | P07902 | TRIP13 | Homo sapiens | Q15645 | 26871637 | |
|
Intra
|
GALT | P07902 | TRIP13 | Homo sapiens | Q15645 | 16189514 | |
|
Intra
|
GALT | P07902 | TRIP13 | Homo sapiens | Q15645 | 26871637 | |
|
Intra
|
GALT | P07902 | NQO1 | Homo sapiens | P15559 | 32296183 | |
|
Intra
|
GALT | P07902 | NQO1 | Homo sapiens | P15559 | 32296183 | |
|
Intra
|
GALT | P07902 | NQO1 | Homo sapiens | P15559 | 32296183 | |
|
Intra
|
GALT | P07902 | TNK2 | Homo sapiens | Q07912 | 25416956 | |
|
Intra
|
GALT | P07902 | TNK2 | Homo sapiens | Q07912 | 25416956 |
GALT Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83180 | GALT Antibody (YA2925) | WB, IP | Human, Mouse, Rat |
| HY-P83180A | GALT Antibody (YA2925)(PBS only) | WB, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Galactosemia I |
|
|
| Premature Menopause |
|
|
| Galactosemia Ii |
|
|
| Galactosemia Iii |
|
|
| Cataract |
|
|
| Lens Subluxation |
|
|
| Ovarian Disease |
|
|
| Premature Ovarian Failure 1 |
|
|
| Hypotonia |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | GALT | VGNC | VGNC:41103 |
| Bos taurus | GALT | VGNC | VGNC:29242 |
| Rattus norvegicus | GALT | RGD | RGD:1306483 |
| Felis catus | GALT | VGNC | VGNC:97443 |
| Mus musculus | GALT | MGD | MGI:95638 |
| Others | GALT | NCBI |