Description
6-pyruvoyltetrahydropterin synthase [Source:HGNC Symbol;Acc:9689]
Gene Synonyms
PTPS
Location
Chromosome 11: 112,097,088-112,140,678 forward strand.
GRCh37:CM000673.1
About this gene
This gene has 9 transcripts (splice variants), 250 orthologues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000280362.3 | PTS-001 | 935 | 145aa | ENSP00000280362.3 | Protein coding | CCDS8359 | E9PNN3 Q03393 | NM_000317.2 | Ensembl Canonical, GENCODE Basic, |
| ENST00000524931.1 | PTS-008 | 696 | 77aa | ENSP00000434688.1 | Protein coding | E9PNN3 | - | GENCODE Basic, | |
| ENST00000525803.1 | PTS-005 | 625 | 61aa | ENSP00000431750.1 | Protein coding | E9PJM0 | - | GENCODE Basic, | |
| ENST00000531673.1 | PTS-002 | 986 | 55aa | ENSP00000433469.1 | Nonsense mediated decay | E9PKY8 | - | - | |
| ENST00000528679.1 | PTS-004 | 846 | 55aa | ENSP00000435895.1 | Nonsense mediated decay | E9PKY8 | - | - | |
| ENST00000525645.1 | PTS-003 | 1069 | No protein | - | Retained intron | - | - | - | |
| ENST00000527428.1 | PTS-006 | 646 | No protein | - | Retained intron | - | - | - | |
| ENST00000527635.1 | PTS-007 | 601 | No protein | - | Retained intron | - | - | - | |
| ENST00000531175.1 | PTS-009 | 430 | No protein | - | Retained intron | - | - | - |

