Description
phosphoribosyl pyrophosphate synthetase 1 [Source:HGNC Symbol;Acc:9462]
Gene Synonyms
ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI
Location
Chromosome X: 106,871,737-106,894,256 forward strand.
GRCh37:CM000685.1
About this gene
This gene has 5 transcripts (splice variants), 4 paralogues and is associated with 12 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000372435.4 | PRPS1-001 | 2073 | 318aa | ENSP00000361512.4 | Protein coding | CCDS14529 | B4DNL6 B7ZB02 P60891 Q15244 | NM_002764.3 | GENCODE basic, |
| ENST00000372428.4 | PRPS1-201 | 1218 | 251aa | ENSP00000361505.4 | Protein coding | B4DNL6 B7ZB02 | - | GENCODE basic, | |
| ENST00000543248.1 | PRPS1-202 | 1199 | 318aa | ENSP00000443185.1 | Protein coding | CCDS14529 | B4DNL6 B7ZB02 P60891 Q15244 | - | GENCODE basic, |
| ENST00000372418.1 | PRPS1-003 | 942 | 218aa | ENSP00000361495.1 | Protein coding | B1ALA9 B7ZB02 | - | GENCODE basic, | |
| ENST00000372419.3 | PRPS1-002 | 628 | 168aa | ENSP00000361496.3 | Protein coding | B1ALA7 Q15244 | - | GENCODE basic, |
