GALT - galactose-1-phosphate uridylyltransferase Gene
生物種: 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 | 参考文献 | 由来 |
|---|---|---|---|
| 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 | 参考文献 | 由来 |
|---|---|---|---|
| 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 | 参考文献 | 由来 |
|---|---|---|---|
| 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
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
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 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| HY-P83180 | GALT Antibody (YA2925) | WB, IP | Human, Mouse, Rat |
| HY-P83180A | GALT Antibody (YA2925)(PBS only) | WB, IP | Human, Mouse, Rat |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Galactosemia I |
|
|
| Premature Menopause |
|
|
| Galactosemia Ii |
|
|
| Galactosemia Iii |
|
|
| Cataract |
|
|
| Lens Subluxation |
|
|
| Ovarian Disease |
|
|
| Premature Ovarian Failure 1 |
|
|
| Hypotonia |
|
Orthologs Information
| 生物種 | Symbol | 由来 | 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 |