Description

phosphoribosyl pyrophosphate synthetase 1 [Source:HGNC Symbol;Acc:HGNC:9462]

Synonyms

CMTX5, DFNX1, DFN2

Location

Chromosome X: 107,628,424-107,651,026 forward strand.

GRCh38:CM000685.2

About this gene

This gene has 4 transcripts (splice variants), 85 orthologues, 4 paralogues, is a member of 1 Ensembl protein family and is associated with 13 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
PRPS1-204ENST00000372435.82073318aaENSP00000361512
 
Protein coding
CCDS14529P60891 NM_002764
NP_002755
TSL:1GENCODE basicAPPRIS P1
PRPS1-203ENST00000372428.81748114aaENSP00000361505
 
Protein coding
CCDS76007B7ZB02 NM_001204402
NP_001191331
TSL:2GENCODE basic
PRPS1-201ENST00000372418.2942218aaENSP00000361495
 
Protein coding
-B1ALA9 -TSL:3GENCODE basic
PRPS1-202ENST00000372419.3628168aaENSP00000361496
 
Protein coding
-B1ALA7 -TSL:2GENCODE basic

Gene-based displays