Gene

spra

ID
ZDB-GENE-050522-412
Name
sepiapterin reductase a
Symbol
spra Nomenclature History
Previous Names
  • spr
  • fj86h06
  • wu:fj86h06
  • zgc:112298
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to have sepiapterin reductase activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Human ortholog(s) of this gene implicated in dystonia and sepiapterin reductase deficiency. Is expressed in diencephalon; melanocyte; midbrain hindbrain boundary; and presumptive neural retina. Orthologous to human SPR (sepiapterin reductase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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 spra Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
sepiapterin reductase deficiency Alliance Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Associated With spra Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR002347 Short-chain dehydrogenase/reductase SDR
Family IPR006393 Sepiapterin reductase
Homologous_superfamily IPR036291 NAD(P)-binding domain superfamily
Domain Details Per Protein
Protein Length NAD(P)-binding domain superfamily Sepiapterin reductase Short-chain dehydrogenase/reductase SDR
UniProtKB:F1QWX4 261
UniProtKB:Q502D7 261
UniProtKB:Q6DG08 260
Transcripts
Genome Browsers
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