Description

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

Synonyms

PTPS

Location

Chromosome 11: 112,226,365-112,269,955 forward strand.

GRCh38:CM000673.2

About this gene

This gene has 9 transcripts (splice variants), 71 orthologues, is a member of 4 Ensembl protein families and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
PTS-001ENST00000280362935145aaENSP00000280362
 
Protein coding
CCDS8359Q03393 NM_000317
NP_000308
TSL:1GENCODE basicAPPRIS P1
PTS-008ENST0000052493169677aaENSP00000434688
 
Protein coding
-E9PNN3 -TSL:3GENCODE basic
PTS-005ENST0000052580362561aaENSP00000431750
 
Protein coding
-E9PJM0 -TSL:3GENCODE basic
PTS-002ENST0000053167398655aaENSP00000433469
 
Nonsense mediated decay
-E9PKY8 -TSL:1
PTS-004ENST0000052867984655aaENSP00000435895
 
Nonsense mediated decay
-E9PKY8 -TSL:2
PTS-003ENST000005256451069No protein-
 
Retained intron
---TSL:1
PTS-006ENST00000527428646No protein-
 
Retained intron
---TSL:4
PTS-007ENST00000527635601No protein-
 
Retained intron
---TSL:2
PTS-009ENST00000531175430No protein-
 
Retained intron
---TSL:3

Gene-based displays