SLC37A4 - solute carrier family 37 member 4 Gene
Also Known as G6PT; SPX4; CDG2W; G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; TRG19; TRG-19; PRO0685
Species: Homo sapiens
About SLC37A4
This gene has 27 transcripts (splice variants), 1 gene allele, 277 orthologues, 12 paralogues and is associated with 6 phenotypes. Broad expression in kidney (RPKM 40.6), duodenum (RPKM 31.3) and 24 other tissues.
Summary
This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
SLC37A4 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001164277.2 | NP_001157749.1 | glucose-6-phosphate exchanger SLC37A4 isoform 1 |
| NM_001164278.2 | NP_001157750.1 | glucose-6-phosphate exchanger SLC37A4 isoform 2 |
| NM_001164279.2 | NP_001157751.1 | glucose-6-phosphate exchanger SLC37A4 isoform 3 |
| NM_001164280.2 | NP_001157752.1 | glucose-6-phosphate exchanger SLC37A4 isoform 1 |
| NM_001467.6 | NP_001458.1 | glucose-6-phosphate exchanger SLC37A4 isoform 1 |
SLC37A4 Protein Structure
MFS_1: Major Facilitator Superfamily (18 - 380)
- 0
- 100
- 200
- 300
- 400
- 429 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glucose-6-phosphate exchanger SLC37A4 |
|
SLC37A4 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SLC37A4 | O43826 | BIK | Homo sapiens | Q13323 | 32296183 | |
|
Intra
|
SLC37A4 | O43826 | BIK | Homo sapiens | Q13323 | 32296183 | |
|
Intra
|
SLC37A4 | O43826 | BIK | Homo sapiens | Q13323 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Glycogen Storage Disease Ib |
|
|
| Glycogen Storage Disease Ic |
|
|
| Congenital Disorder Of Glycosylation, Type Iiw |
|
|
| Glucose-6-Phosphate Translocase Deficiency |
|
|
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
|
| Glycogen Storage Disease |
|
|
| Neutropenia |
|
|
| Glycogen Storage Disease Ia |
|
|
| Splenomegaly |
|
|
| Immune Deficiency Disease |
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
|
| Hepatocellular Adenoma |
|
|
| Hypoglycemia |
|
|
| Hyperuricemia |
|
|
| Glycogen Storage Disease Iii |
|
|
| Severe Congenital Neutropenia 4 |
|
|
| Severe Congenital Neutropenia 3 |
|
|
| Liver Benign Neoplasm |
|
|
| Cyclic Neutropenia |
|
|
| Severe Congenital Neutropenia 5 |
|
|
| Severe Congenital Neutropenia |
|
|
| Glycerol Kinase Deficiency |
|
|
| Autosomal Dominant Severe Congenital Neutropenia |
|
|
| Inflammatory Bowel Disease |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | SLC37A4 | RGD | RGD:62066 |
| Felis catus | SLC37A4 | VGNC | VGNC:65341 |
| Mus musculus | SLC37A4 | MGD | MGI:1316650 |
| Canis familiaris | SLC37A4 | VGNC | VGNC:46389 |
| Bos taurus | SLC37A4 | VGNC | VGNC:34845 |
| Macaca mulatta | SLC37A4 | VGNC | VGNC:77591 |
| Others | SLC37A4 | NCBI |