Gene: PRPS1 ENSG00000147224

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 18 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000372435.4	PRPS1-001	2073	318aa	ENSP00000361512.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14529	B4DNL6 B7ZB02 P60891 Q15244	NM_002764.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000372428.4	PRPS1-201	1218	251aa	ENSP00000361505.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DNL6 B7ZB02	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000543248.1	PRPS1-202	1199	318aa	ENSP00000443185.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14529	B4DNL6 B7ZB02 P60891 Q15244	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000372418.1	PRPS1-003	942	218aa	ENSP00000361495.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B1ALA9 B7ZB02	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000372419.3	PRPS1-002	628	168aa	ENSP00000361496.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B1ALA7 Q15244	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,

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Gene: PRPS1 ENSG00000147224

Summary