Human (GRCh38.p14)
Description

6-pyruvoyltetrahydropterin synthase [Source:HGNC Symbol;Acc:HGNC:9689]

Gene Synonyms

PTPS

Location

Chromosome 11: 112,226,367-112,269,955 forward strand.

GRCh38:CM000673.2

About this gene

This gene has 9 transcripts (splice variants), 252 orthologues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000280362.8PTS-201872145aaENSP00000280362.3
 
Protein coding
CCDS8359Q03393 NM_000317.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000524931.1PTS-20269677aaENSP00000434688.1
 
Protein coding
E9PNN3 -GENCODE basicTSL:3
ENST00000525803.1PTS-20462561aaENSP00000431750.1
 
Protein coding
E9PJM0 -GENCODE basicTSL:3
ENST00000531673.5PTS-20998655aaENSP00000433469.1
 
Nonsense mediated decay
E9PKY8 -TSL:1
ENST00000528679.5PTS-20784655aaENSP00000435895.1
 
Nonsense mediated decay
E9PKY8 -TSL:2
ENST00000525645.1PTS-2031069No protein-
 
Retained intron
--TSL:1
ENST00000527428.5PTS-205646No protein-
 
Retained intron
--TSL:4
ENST00000527635.1PTS-206601No protein-
 
Retained intron
--TSL:2
ENST00000531175.1PTS-208430No protein-
 
Retained intron
--TSL:3