| Tbio | Delta-1-pyrroline-5-carboxylate synthase |
Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Adenocarcinoma of lung | 142 | 0.0 | 0.0 |
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA | 1 | 0.0 | 0.0 |
| Cutis Laxa, Autosomal Dominant | 3 | 0.0 | 0.0 |
| Disease Models, Animal | 155 | 0.0 | 0.0 |
| SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE | 1 | 0.0 | 0.0 |
| Spastic paraplegia 9, autosomal dominant | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| non-small cell lung cancer | 2890 | 9.4e-23 |
| lung adenocarcinoma | 2716 | 2.9e-11 |
| ulcerative colitis | 1819 | 9.5e-10 |
| ependymoma | 4679 | 7.8e-09 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.9e-07 |
| medulloblastoma, large-cell | 6241 | 1.1e-06 |
| pediatric high grade glioma | 1064 | 4.0e-06 |
| Astrocytoma, Pilocytic | 3081 | 7.6e-06 |
| osteosarcoma | 7950 | 6.5e-05 |
| group 3 medulloblastoma | 4104 | 3.6e-04 |
| lung cancer | 4740 | 3.9e-04 |
| invasive ductal carcinoma | 2951 | 1.1e-03 |
| psoriasis | 6694 | 2.5e-03 |
| ovarian cancer | 8520 | 7.3e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Multiple Sclerosis | 540 | 0.0 | 0.8 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| hereditary spastic paraplegia | 318 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Pathological gambling | 15 | 4.037 | 2.0 |
| Warburg micro syndrome | 18 | 3.239 | 1.6 |
| Gyrate atrophy | 7 | 3.052 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| Astrocytoma, Pilocytic | 1.100 | 7.6e-06 |
| atypical teratoid / rhabdoid tumor | 1.400 | 2.9e-07 |
| ependymoma | 1.100 | 7.8e-09 |
| group 3 medulloblastoma | 1.500 | 3.6e-04 |
| invasive ductal carcinoma | 1.200 | 1.1e-03 |
| lung adenocarcinoma | 1.300 | 2.9e-11 |
| lung cancer | 1.900 | 3.9e-04 |
| medulloblastoma, large-cell | 2.000 | 1.1e-06 |
| non-small cell lung cancer | 1.543 | 9.4e-23 |
| osteosarcoma | 2.336 | 6.5e-05 |
| ovarian cancer | 1.200 | 7.3e-03 |
| pediatric high grade glioma | 1.100 | 4.0e-06 |
| psoriasis | 1.200 | 2.5e-03 |
| ulcerative colitis | -1.300 | 9.5e-10 |
MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKSFAHRSELKHA 1 - 70 KRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAVAFGKQRLRHEILLSQSVRQA 71 - 140 LHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQYSICAAQILVTNLDFHDEQKRRNLNGTLHEL 141 - 210 LRMNIVPIVNTNDAVVPPAEPNSDLQGVNVISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDD 211 - 280 AKLIDIFYPGDQQSVTFGTKSRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVG 281 - 350 TFFSEVKPAGPTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAA 351 - 420 PLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIFESRPDCLPQV 421 - 490 AALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTREEVEDLCRLDKMIDLIIPRGS 491 - 560 SQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRLVRDSKCEYPAACNALETLLIHRDLLRTPLF 561 - 630 DQIIDMLRVEQVKIHAGPKFASYLTFSPSEVKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIV 631 - 700 TEDENTAEFFLQHVDSACVFWNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHV 701 - 770 VSDFSEHGSLKYLHENLPIPQRNTN 771 - 795 //
