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Spr
Gene Detail
Symbol

Name
ID
Spr
sepiapterin reductase
MGI:103078
Feature Type
protein coding gene
Genetic Map
Chromosome 6
37.15 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr6:85133678-85137766 bp, - strand
From VEGA annotation of GRCm38

  4089 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37735  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: SPR
Gene Tree: Spr

Human
homologs
SPR, sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6697
neXtProt AC: NX_P35270

Human Synonyms: SDR38C1

Human Chr (Location): 2p14-p12; chr2:72887383-72892160 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SPR

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Spontaneous(1) Targeted(4)
Genomic Mutations involving Spr (1)
 
Mice homozygous for a null allele exhibit premature death, severe growth retardation, dwarfism, decreased levels of insulin-like growth factor 1, dopamine, serotonine, noradrenaline, biopterin, and neopterin, abnormal voluntary movement, and elevated phenylalanine levels.
 
Human Diseases Modeled in Mice Using Spr (2)    Mutations Annotated to Human Diseases (2)   
Interactions
Spr interacts with 90 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (23 annotations)
Process cell morphogenesis involved in neuron differentiation, death, ...
Component cytoplasm, extracellular exosome, ...
Function oxidoreductase activity, protein homodimerization activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(96)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase spr ; ZFIN spra    NEW 
Molecular
reagents
All nucleic(98) cDNA(96) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000037795 (Evidence)
Ensembl Gene Model ENSMUSG00000033735 (Evidence)
Entrez Gene 20751 (Evidence)
UniGene 28393
DFCI TC1576059
DoTS DT.535565, DT.94333811, DT.99850241
NIA Mouse Gene Index U027547, U277677
EC 1.1.1.153
PDB 1NAS, 1OAA, 1SEP
Consensus CDS Project CCDS51826.1
International Mouse Phenotyping Consortium Status Spr
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037795 VEGA Gene Model | MGI Sequence Detail 4089 C57BL/6J ±  kb
transcript OTTMUST00000097538 VEGA | MGI Sequence Detail 1230 Not Applicable 
polypeptide OTTMUSP00000054720 VEGA | MGI Sequence Detail 262 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(2) UniProt(5)
Polymorphisms
PCR(1) : SNPs within 2kb(30 from dbSNP Build 137)    SNPs within 2kb including multiple locations(40)
Protein-related
information
ResourceIDDescription
InterPro IPR002347 Glucose/ribitol dehydrogenase
InterPro IPR016040 NAD(P)-binding domain
InterPro IPR006393 Sepiapterin reductase
InterPro IPR002198 Short-chain dehydrogenase/reductase SDR
Protein Ontology PR:000015567 sepiapterin reductase
References
(Earliest) J:23125 Ota A, et al., Mouse sepiapterin reductase: an enzyme involved in the final step of tetrahydrobiopterin biosynthesis. Primary structure deduced from the cDNA sequence. Biochim Biophys Acta. 1995 Feb 21;1260(3):320-2
(Latest) J:199933 Kwak SS, et al., Amelioration of Behavioral Abnormalities in BH4-deficient Mice by Dietary Supplementation of Tyrosine. PLoS One. 2013;8(4):e60803
All references(41)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-23942, MGI:2141365

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory