Gene

pts

ID
ZDB-GENE-070615-3
Name
6-pyruvoyltetrahydropterin synthase
Symbol
pts Nomenclature History
Previous Names
  • zgc:162276
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to enable 6-pyruvoyltetrahydropterin synthase activity and metal ion binding activity. Predicted to act upstream of or within tetrahydrobiopterin biosynthetic process. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia A and phenylketonuria. Orthologous to human PTS (6-pyruvoyltetrahydropterin synthase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pts Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
BH4-deficient hyperphenylalaninemia A Alliance Hyperphenylalaninemia, BH4-deficient, A 261640
Associated With pts Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR022469 6-pyruvoyl tetrahydropterin synthase, histidine active site
Active_site IPR022470 6-pyruvoyl tetrahydropterin synthase, cysteine active site
Family IPR007115 6-pyruvoyl tetrahydropterin synthase/QueD family
Homologous_superfamily IPR038418 6-pyruvoyl tetrahydropterin synthase/QueD superfamily
Domain Details Per Protein
Protein Length 6-pyruvoyl tetrahydropterin synthase, cysteine active site 6-pyruvoyl tetrahydropterin synthase, histidine active site 6-pyruvoyl tetrahydropterin synthase/QueD family 6-pyruvoyl tetrahydropterin synthase/QueD superfamily
UniProtKB:Q6B324 143
UniProtKB:A5PKS5 139
UniProtKB:F1QA74 139
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations