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Details of GFPT1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| GFPT1 | GFAT,GFPT | Q06210 | GFPT1_HUMAN | 2673 | ENSG00000198380 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542]: A congenital myasthenic syndrome characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. Note=The disease is caused by mutations affecting the gene represented in this entry. | 610542 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Gfpt1 | Gfat2 | F07A11.2... | Sp-Gfpt1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PPP2R1A | GFPT1 | 0.361886451 | PPP2R1A | GFPT1 | cpx206 | no | yes | no | Known |
| ACADM | GFPT1 | 0.38456128 | ACADM | GFPT1 | cpx206 | no | yes | no | Known |
| FASN | GFPT1 | 0.606665693 | FASN | GFPT1 | cpx243 | no | yes | no | Known |
| PSMC2 | GFPT1 | 0.726559191 | PSMC2 | GFPT1 | cpx243 | no | yes | no | Known |
| AHSA1 | GFPT1 | 0.21291668 | AHSA1 | GFPT1 | cpx206 | no | yes | yes | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| LDHB | GFPT1 | 0.128443412 | LDHB | GFPT1 |
| PSMC4 | GFPT1 | 0.200648438 | PSMC4 | GFPT1 |
| UBA1 | GFPT1 | 0.121454489 | UBA1 | GFPT1 |
| TARS | GFPT1 | 0.107095263 | TARS | GFPT1 |
| PSMD2 | GFPT1 | 0.690043696 | PSMD2 | GFPT1 |
| CAD | GFPT1 | 0.165948652 | CAD | GFPT1 |
| GFPT1 | GARS | 0.103977381 | GFPT1 | GARS |
| ATP5B | GFPT1 | 0.44121311 | ATP5B | GFPT1 |
| GFPT1 | ASNS | 0.286123325 | GFPT1 | ASNS |
| IARS | GFPT1 | 0.092391515 | IARS | GFPT1 |
| GFPT1 | SETD3 | 0.073305275 | GFPT1 | SETD3 |
| PFDN4 | GFPT1 | 0.134036508 | PFDN4 | GFPT1 |
| GFPT1 | CRK | 0.107018786 | GFPT1 | CRK |
| PSMD4 | GFPT1 | 0.077037282 | PSMD4 | GFPT1 |
| CCT6A | GFPT1 | 0.31292536 | CCT6A | GFPT1 |
| DARS | GFPT1 | 0.170921085 | DARS | GFPT1 |
| XPO1 | GFPT1 | 0.163138021 | XPO1 | GFPT1 |
| MARS | GFPT1 | 0.078629218 | MARS | GFPT1 |
| HEATR2 | GFPT1 | 0.094196065 | HEATR2 | GFPT1 |
| PSMD3 | GFPT1 | 0.141374309 | PSMD3 | GFPT1 |
| CCT8 | GFPT1 | 0.147569938 | CCT8 | GFPT1 |
| NMD3 | GFPT1 | 0.105764508 | NMD3 | GFPT1 |
| TTC27 | GFPT1 | 0.073898375 | TTC27 | GFPT1 |
| PFDN5 | GFPT1 | 0.071583001 | PFDN5 | GFPT1 |
| ARHGAP1 | GFPT1 | 0.099645832 | ARHGAP1 | GFPT1 |