GMDS - GDP-mannose 4,6-dehydratase Gene
Also Known as GMD; SDR3E1
Species: Homo sapiens
About GMDS
This gene has 10 transcripts (splice variants), 214 orthologues and 10 paralogues. Broad expression in colon (RPKM 6.8), stomach (RPKM 6.6) and 23 other tissues.
Summary
GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]
GMDS Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001253846.2 | NP_001240775.1 | GDP-mannose 4,6 dehydratase isoform 2 |
| NM_001500.4 | NP_001491.1 | GDP-mannose 4,6 dehydratase isoform 1 |
GMDS Protein Structure
Epimerase: NAD dependent epimerase/dehydratase family (26 - 274)
- 0
- 100
- 200
- 300
- 372 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
GDP-mannose 4,6 dehydratase |
|
GMDS Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GMDS | O60547 | NTAQ1 | Homo sapiens | Q96HA8 | 32296183 | |
|
Intra
|
GMDS | O60547 | NTAQ1 | Homo sapiens | Q96HA8 | 25416956 | |
|
Intra
|
GMDS | O60547 | NTAQ1 | Homo sapiens | Q96HA8 | 25416956 | |
|
Intra
|
GMDS | O60547 | GMDS | Homo sapiens | O60547 | 32296183 | |
|
Intra
|
GMDS | O60547 | GMDS | Homo sapiens | O60547 | 31515488 | |
|
Intra
|
GMDS | O60547 | GMDS | Homo sapiens | O60547 | 32296183 | |
|
Intra
|
GMDS | O60547 | TAE1 | Saccharomyces cerevisiae | P38340 | 27107014 | |
|
Intra
|
GMDS | O60547 | TNKS | Homo sapiens | O95271 | 33961781 | |
|
Intra
|
GMDS | O60547 | GMDS | Homo sapiens | O60547 | 25416956 | |
|
Intra
|
GMDS | O60547 | TNKS | Homo sapiens | O95271 | 28514442 | |
|
Intra
|
GMDS | O60547 | GMDS | Homo sapiens | O60547 | 32296183 | |
|
Intra
|
GMDS | O60547 | TAE1 | Saccharomyces cerevisiae | P38340 | 27107014 | |
|
Intra
|
GMDS | O60547 | TNKS2 | Homo sapiens | Q9H2K2 | 28514442 | |
|
Intra
|
GMDS | O60547 | GMDS | Homo sapiens | O60547 | 16189514 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Congenital Disorder Of Glycosylation, Type Iic |
|
|
| Partial Fetal Alcohol Syndrome |
|
|
| Non-Syndromic X-Linked Intellectual Disability Arx-Related |
|
|
| Anterior Segment Dysgenesis 3 |
|
|
| Traumatic Glaucoma |
|
|
| Retinitis Pigmentosa 20 |
|
|
| Axenfeld-Rieger Syndrome, Type 1 |
|
|
| Myopathy, Centronuclear, 2 |
|
|
| Glaucoma, Primary Open Angle |
|
|
| Primary Congenital Glaucoma |
|
|
| Axenfeld-Rieger Syndrome |
|
|
| Peters-Plus Syndrome |
|
|
| Anterior Segment Dysgenesis |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | GMDS | RGD | RGD:1311008 |
| Macaca mulatta | GMDS | VGNC | VGNC:73079 |
| Mus musculus | GMDS | MGD | MGI:1891112 |
| Canis familiaris | GMDS | VGNC | VGNC:58303 |
| Felis catus | GMDS | VGNC | VGNC:62604 |
| Bos taurus | GMDS | VGNC | VGNC:55901 |
| Others | GMDS | NCBI |