Gene Name | PRPS1 |
|
Specie | Homo sapiens | |
Full Name | phosphoribosyl pyrophosphate synthetase 1 | |
Also known as | ARTS|CMTX5|DFN2|DFNX1|PPRibP|PRS-I|PRSI | |
Coordinate | chrX:107628510-107651026 | |
Strand | + | |
Gene summary | This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] |
Retroname | Coord | Strand | Genomic Region | ENSG | |
---|---|---|---|---|---|
PRPS1L1 | chr7:18026812-18027796 | - |
Intergenic |
ENSG00000229937 | UCSC |
PRPS1P2 | chr9:125150530-125152528 | + |
Intragenic |
ENSG00000232630 | UCSC |
>NM_002764.4 |
AATGTAAGATGGCGGAGTAGCAACGCAAAGCGCTTGGTATTGAGTCTGTGGCCGACTTCGGTTCCGGTCTCTGCAGCAGCCGTGATCGCTTAGTGGAGTGCTTAGGGTAGTTGGCCAGGATGCCGAATATCAAAATCTTCAGCGGCAGCTCCCACCAGGACTTATCTCAGAAAATTGCTGACCGCCTGGGCCTGGAGCTAGGCAAGGTGGTGACTAAGAAATTCAGCAACCAGGAGACCTGTGTGGAAATTGGTGAAAGTGTACGTGGAGAGGATGTCTACATTGTTCAGAGTGGTTGTGGCGAAATCAATGACAATTTAATGGAGCTTTTGATCATGATTAATGCCTGCAAGATTGCTTCAGCCAGCCGGGTTACTGCAGTCATCCCATGCTTCCCTTATGCCCGGCAGGATAAGAAAGATAAGAGCCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGCTATCTGTAGCAGGTGCAGATCATATTATCACCATGGACCTACATGCTTCTCAAATTCAGGGCTTTTTTGATATCCCAGTAGACAATTTGTATGCAGAGCCGGCTGTCCTAAAGTGGATAAGGGAGAATATCTCTGAGTGGAGGAACTGCACTATTGTCTCACCTGATGCTGGTGGAGCTAAGAGAGTGACCTCCATTGCAGACAGGCTGAATGTGGACTTTGCCTTGATTCACAAAGAACGGAAGAAGGCCAATGAAGTGGACCGCATGGTGCTTGTGGGAGATGTGAAGGATCGGGTGGCCATCCTTGTGGATGACATGGCTGACACTTGTGGCACAATCTGCCATGCAGCTGACAAACTTCTCTCAGCTGGCGCCACCAGAGTTTATGCCATCTTGACTCATGGAATCTTCTCCGGTCCTGCTATTTCTCGCATCAACAACGCATGCTTTGAGGCAGTAGTAGTCACCAATACCATACCTCAGGAGGACAAGATGAAGCATTGCTCCAAAATACAGGTGATTGACATCTCTATGATCCTTGCAGAAGCCATCAGGAGAACTCACAATGGAGAATCCGTTTCTTACCTATTCAGCCATGTCCCTTTATAATAGAGTAACTTCTGAGGCTTTTTGAGAATAAAATCCACCCCACCCTTGTTTCCCCTTGGTATTTGATGACAAATTCAGCAGAAGACCCGGCTTGCTCCAGTGTAGCTTTCTACATCCCACATCAGGTATATTAGAGCTTATCCGAACTGGGGAAAGACGGATTGAGATTAACTGCTGGGACCTCCTACCTGCATTATCTCATTCTGGCTTCCTTGATAATTCTGTGGGCCTTGCAGCTTTAACTATAGCTCAGCTGCTGCAAGATTTCAGACTTTTGAGGATGTTGTGTGAGGGTGTTTGACTGTGACTGGGGAAGCTCAGACTACTTTGTATGTGAATGCTTCAGGGTTTTCTTTGTTGAGAACAACTAGCAACAAAGGCAACCCATGTGTGACCAGTTCTCCCCAAGGTCTATGCTAAATTATAGCAAGAGCCCTGGGCAACCCCAAACCTAGTCCTGGTAGCTGAGCACCCTGTAAGGCAGGAGCAGGCAGCTCAGCTTGAGCAGACATTGGGTGGGGGGTGGGGGGTGGTTGAGGGGGGAGGCAGCACAGTGCAGCAAATGTTTCTTGGGAGGAAGAAGCCTGATCCATCACCATCTGCTTGACTATGTAGCTTGGATTCTCCTTTGTACCTATCCCTTTCGATTTGGCTTTACCTTCATCTATCTTGATCCTTTCCTGGCCAAATATCCTCTTGGGCCCAAATGAACATTGTACCATAGTCTTCTGGAAAGCAAACATGCTTCCTGCTATGTAATTGCTAACATTCATATTAGATGATGTGCTGTAGCTTGATCTTCCTTAGCCTACTGCCACTGAGGCAGTAGGTTTTAGGTGGTATCGTAGTGCCTTTTGATTAATTTAAGTATTTAATTTTCATCTTCCTTCTTTGGATCTATTTGGCCTCTCAAATGAACTGAGATTCCTGTTAAAAAAGATTGATGTTATTGTCTCTTGTAGAGGAAACTAATAAAGTGTGTGTACCTGTGTGA |