Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SPR Gene

protein-coding   GIFtS: 70
GCID: GC02P073026

Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase)1 2     SDR38C12
EC 1.1.1.1533 8     Sepiapterin Reductase2
Member 11     Short Chain Dehydrogenase/Reductase Family 38C, Member 12
Short Chain Dehydrogenase/Reductase Family 38C1     

External Ids:    HGNC: 112571   Entrez Gene: 66972   Ensembl: ENSG000001160967   OMIM: 1821255   UniProtKB: P352703   

Export aliases for SPR gene to outside databases

Previous GC identifers: GC02P073124 GC02P073325 GC02P073089 GC02P072968 GC02P072850


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for SPR Gene:
This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and
is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive
dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. (provided by
RefSeq, Jul 2008)

GeneCards Summary for SPR Gene:
SPR (sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)) is a protein-coding gene. Diseases associated with SPR include dopa-responsive dystonia due to sepiapterin reductase deficiency, and sepiapterin reductase deficiency. GO annotations related to this gene include NADP binding and sepiapterin reductase activity.

UniProtKB/Swiss-Prot: SPRE_HUMAN, P35270
Function: Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form
5,6,7,8-tetrahydrobiopterin

Gene Wiki entry for SPR Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPR gene promoter:
         N-Myc   TBP   C/EBPbeta   PPAR-gamma1   PPAR-gamma2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPR promoter sequence
   Search Chromatin IP Primers for SPR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p14-p12   Ensembl cytogenetic band:  2p13.2   HGNC cytogenetic band: 2p14-p12

SPR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPR gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P073026:  view genomic region     (about GC identifiers)

Start:
73,114,489 bp from pter      End:
73,119,289 bp from pter
Size:
4,801 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: SPRE_HUMAN, P35270 (See protein sequence)
Recommended Name: Sepiapterin reductase  
Size: 261 amino acids; 28048 Da
Subunit: Homodimer
3 PDB 3D structures from and Proteopedia for SPR:
1Z6Z (3D)        4HWK (3D)        4J7U (3D)    
Secondary accessions: A8K741 D6W5H2 Q53GI9 Q9UBB1

Explore the universe of human proteins at neXtProt for SPR: NX_P35270

Explore proteomics data for SPR at MOPED

Post-translational modifications: 

  • In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters1
  • Ubiquitination2 at Lys240
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for SPR (P35270)
     SGAHVDFYD  MQQLARETS 


    See SPR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003115.1  
    ENSEMBL proteins: 
     ENSP00000234454  
    Reactome Protein details: P35270

    SPR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SPR
    OriGene Protein Over-expression Lysate for SPR
    OriGene MassSpec for SPR
    OriGene Custom Protein Services for SPR
    GenScript Custom Purified and Recombinant Proteins Services for SPR
    Novus Biologicals SPR Proteins
    Novus Biologicals SPR Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for SPR
    Cloud-Clone Corp. Proteins for SPR

    SPR Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SPR
    OriGene Custom Antibody Services for SPR
    Novus Biologicals SPR Antibodies
    Abcam antibodies for SPR
    Cloud-Clone Corp. Antibodies for SPR
    ThermoFisher Antibodies for SPR
    LSBio Antibodies in human, mouse, rat for SPR

    SPR Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SPR
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SPR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPR
    Cloud-Clone Corp. CLIAs for SPR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    SDRC1: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1

    4 InterPro protein domains:
     IPR006393 Sepiapterin_red
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P35270

    ProtoNet protein and cluster: P35270

    1 Blocks protein domain: IPB002198 Short-chain dehydrogenase/reductase SDR

    UniProtKB/Swiss-Prot: SPRE_HUMAN, P35270
    Similarity: Belongs to the sepiapterin reductase family


    SPR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPRE_HUMAN, P35270
    Function: Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form
    5,6,7,8-tetrahydrobiopterin
    Catalytic activity: L-erythro-7,8-dihydrobiopterin + NADP(+) = sepiapterin + NADPH
    Catalytic activity: L-erythro-tetrahydrobiopterin + 2 NADP(+) = 6-pyruvoyl-5,6,7,8-tetrahydropterin + 2 NADPH
    Biophysicochemical properties: Kinetic parameters: KM=14.3 uM for sepiapterin; KM=10 uM for NADPH;

         Genatlas biochemistry entry for SPR:
    sepiapterin reductase,catalyzing the final step of tetrahydrobiopterin (BH4) synthesis,cofactor for aromatic
    aminoacid hydroxylase and nitric oxid synthase

         Enzyme Number (IUBMB): EC 1.1.1.1531 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004033aldo-keto reductase (NADP) activity TAS1883349
    GO:0004757sepiapterin reductase activity TAS--
    GO:0016491oxidoreductase activity ----
    GO:0050661NADP binding TAS1883349
         
    SPR for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SPR:
     Increased G1 DNA content  Increased circadian rhythm amp 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Spr):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  nervous system 

    SPR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SPR: Sprtm1Lex Sprtm1Spo

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPR

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPR:
    hsa-let-7b-5p (MIRT032464)

    Block miRNA regulation of human, mouse, rat SPR using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SPR:
    hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidSPR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPR
    Predesigned siRNA for gene silencing in human, mouse, rat SPR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPR

    Clone
    Products:
         
    OriGene clones in human, mouse for SPR (see all 7)
    OriGene ORF clones in mouse, rat for SPR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPR (NM_003124)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPR

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SPR
    Browse ESI BIO Cell Lines and PureStem Progenitors for SPR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    SPRE_HUMAN, P35270: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    mitochondrion2
    extracellular1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    SPR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for SPR About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of nitric oxide
    Metabolism of nitric oxide
    tetrahydrobiopterin de novo biosynthesis0.00
    eNOS activation and regulation0.00
    Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Folate biosynthesis
    Folate biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SPR
        tetrahydrobiopterin de novo biosynthesis

    1 Reactome Pathway for SPR
        Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation


    2 Kegg Pathways  (Kegg details for SPR):
        Folate biosynthesis
    Metabolic pathways


    SPR for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPR
    Interactions:

        GeneGlobe Interaction Network for SPR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for SPR (P352702, 3 ENSP000002344544) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3MINT-3304560 I2D: score=1 
    CAMK2GQ135553, ENSP000003190604I2D: score=1 STRING: ENSP00000319060
    YWHAQP273483, ENSP000002380814I2D: score=1 STRING: ENSP00000238081
    ATG101Q9BSB43I2D: score=1 
    QDPRENSP000002812434STRING: ENSP00000281243
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006729tetrahydrobiopterin biosynthetic process TAS1883349
    GO:0006809nitric oxide biosynthetic process IDA15197144
    GO:0008152metabolic process ----
    GO:0044281small molecule metabolic process TAS--
    GO:0046209nitric oxide metabolic process TAS--

    SPR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPR (SPRE)

    9 HMDB Compounds for SPR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dihydrobiopterin(S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)6779-87-93888618
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-29165069
    1-hydroxy-2-Oxopropyl tetrahydropterin ----
    6-Lactoyltetrahydropterin6-Lactoyl tetrahydropterin (see all 4)33405-80-0--
    Dyspropterin6-(1,2-dioxopropyl)-5,6,7,8-tetrahydropterin (see all 5)89687-39-8--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Sapropterin(6R)-5,6,7,8-Tetrahydro-L-biopterin (see all 11)62989-33-7--
    SepiapterinL-sepiapterin (see all 8)17094-01-8--

    4 DrugBank Compounds for SPR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423 10592235
    Biopterin-- --target--17139284 17016423 10592235
    Oxaloacetate Ion-- --target--17139284 17016423 10592235
    N-Acetyl Serotonin-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for SPR gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sepiapterin 99.1 137 2154472 (3), 1883349 (3), 1544933 (3), 17074599 (3) (see all 70)
    6-pyruvoyltetrahydropterin 97.4 22 2154472 (3), 16917893 (2), 12003346 (1), 15197144 (1) (see all 17)
    tetrahydrobiopterin 95.1 39 1883349 (2), 8137944 (2), 12604243 (2), 11592814 (2) (see all 27)
    dihydropteridine 92.5 9 16917893 (2), 12003346 (1), 2039522 (1), 11902126 (1) (see all 7)
    dihydroneopterin triphosphate 89.1 1 1797835 (1)
    pterin 85 4 1544933 (1), 16532389 (1), 17074599 (1)
    gtp 79.9 41 2154472 (2), 19234759 (2), 16917893 (2), 12003346 (1) (see all 22)
    n-acetylserotonin 79.3 5 18511317 (2), 1544933 (1), 8569700 (1), 12604243 (1)
    pteridine 74.4 1 2039522 (1)
    phenylalanine 61.7 4 12414107 (1), 17690069 (1), 19234759 (1)



    SPR for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SPR gene: 
    NM_003124.4  

    Unigene Cluster for SPR:

    Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
    Hs.301540  [show with all ESTs]
    Unigene Representative Sequence: NM_003124
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000234454(uc002sik.2) ENST00000498749
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPR using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SPR:
    hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidSPR 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPR
    Predesigned siRNA for gene silencing in human, mouse, rat SPR
    Clone
    Products:
         
    OriGene clones in human, mouse for SPR (see all 7)
    OriGene ORF clones in mouse, rat for SPR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPR (NM_003124)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPR
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SPR
    OriGene qSTAR qPCR primer pairs in human, mouse for SPR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPR
      QuantiTect SYBR Green Assays in human, mouse, rat SPR
      QuantiFast Probe-based Assays in human, mouse, rat SPR

    Additional mRNA sequence: 

    AK222942.1 AK291856.1 AK299712.1 BC017310.2 M76231.1 S71376.1 

    7 DOTS entries:

    DT.444056  DT.95218055  DT.91929740  DT.120976166  DT.120976161  DT.100790157  DT.121357073 

    Selected AceView cDNA sequences (see all 181):

    BU185346 BQ438014 AI144403 CF127182 CB306394 CA423303 BP367726 BE904122 
    BQ680362 AI474949 BM817436 M76231 BC017310 NM_003124 CA427814 CA455162 
    AA864778 BQ681529 BM560296 AI339518 CB136692 BQ935381 BM982265 BM714162 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SPR    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c
    SP1:                                                      
    SP2:                    -                                 
    SP3:                                -                     


    ECgene alternative splicing isoforms for SPR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    SPR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCAGCCCA
    SPR Expression
    About this image


    SPR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Lens
     
     Liver (Hepatobiliary System)
     
     Kidney (Urinary System)
    SPR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.301540
        Custom PCR Arrays for SPR
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SPR
    OriGene qSTAR qPCR primer pairs in human, mouse for SPR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPR
    QuantiTect SYBR Green Assays in human, mouse, rat SPR
    QuantiFast Probe-based Assays in human, mouse, rat SPR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SPR gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spr1 , 5 sepiapterin reductase1, 5 79.2(n)1
    74.81(a)1
      6 (37.15 cM)5
    207511  NM_011467.21  NP_035597.21 
     851336785 
    chicken
    (Gallus gallus)
    Aves SPR1 sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 68.12(n)
    65.08(a)
      425255  XM_423038.4  XP_423038.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPR6
    sepiapterin reductase (7,8-dihydrobiopterin:NADP+ ...
    65(a)
    1 ↔ 1
    GL343632.1(40293-42818)
    African clawed frog
    (Xenopus laevis)
    Amphibia spr-prov2 sepiapterin reductase (7,8-dihydrobiopterinNADP+ oxidoreductase) 78.01(n)    BC043999.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spra1 sepiapterin reductase a 60.78(n)
    52.94(a)
      554136  NM_001024430.2  NP_001019601.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sptr1 , 3 sepiapterin reductase3
    Sepiapterin reductase1
    33(a)3
    47.2(n)1
    35.6(a)1
      7E113
    317811  NM_167157.11  NP_727265.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IRC24(YIR036C)4 Putative benzil reductase;(GFP)-fusion protein localizes more   --   9(422865-422074) 854854  NP_012302.1 


    ENSEMBL Gene Tree for SPR (if available)
    TreeFam Gene Tree for SPR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for SPR gene

    SPR for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SPR
    PGOHUM00000244737


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SPR (see all 146)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0580074
    Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD)4--see VAR_0580072 R G mis40--------
    VAR_0580084
    Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD)4--see VAR_0580082 P L mis40--------
    rs1048936651,2
    C,Fpathogenic172980628(+) TCAACA/GGAACC 2 R G mis11Minor allele frequency- G:0.00NA 4552
    rs1048936661,2
    Cpathogenic172980668(+) GCAACC/TTTTCA 2 P L mis10--------
    rs772670551,2
    C,F--72977640(+) TGCCAA/TTAACT 1 -- us2k11Minor allele frequency- T:0.07EA 120
    rs1826828741,2
    C--72977828(+) TGAGAC/TGGGAG 1 -- us2k10--------
    rs1443442991,2
    --72977953(+) TTCCAA/GACCCT 1 -- us2k10--------
    rs1477924541,2
    C--72977980(+) ACCACG/TTTCTC 1 -- us2k10--------
    rs784893771,2
    C,F--72978073(+) TTGTTC/TCCTCC 1 -- us2k12Minor allele frequency- T:0.07CSA WA 120
    rs739456361,2
    C,F--72978148(+) TCGTGC/TTTTCA 1 -- us2k12Minor allele frequency- T:0.07WA 120

    HapMap Linkage Disequilibrium report for SPR (73114489 - 73119289 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SPR: --
    Human Gene Mutation Database (HGMD): SPR
    Locus Specific Mutation Databases (LSDB): SPR

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPR
    DNA2.0 Custom Variant and Variant Library Synthesis for SPR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 182125   
    OMIM disorders: 612716  
    UniProtKB/Swiss-Prot: SPRE_HUMAN, P35270
  • Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]: A form of
    DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation,
    dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and
    serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by
    the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SPR (see all 23):    
    About MalaCards
    dopa-responsive dystonia due to sepiapterin reductase deficiency    sepiapterin reductase deficiency    dihydropteridine reductase deficiency    cervical dystonia
    tetrahydrobiopterin deficiency    hypersomnia    hyperphenylalaninemia    bladder transitional cell carcinoma
    neurologic diseases    transitional cell carcinoma    phenylketonuria    labyrinthitis
    spina bifida    parkinson's disease    bipolar disorder    spasticity
    neuroblastoma    cervicitis    malaria    multiple myeloma

    1 disease from the University of Copenhagen DISEASES database for SPR:
    Phenylketonuria

    SPR for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SPR gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperphenylalaninemia 87.9 4 11855937 (1), 12893295 (1), 10727395 (1), 11592814 (1)
    motor disorder 43 1 17188538 (1)
    parkinson disease 35 7 16443856 (5), 17270157 (1)

    Genetic Association Database (GAD): SPR
    Human Genome Epidemiology (HuGE) Navigator: SPR (30 documents)

    Export disorders for SPR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for SPR gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with SPR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and sequencing of cDNA encoding human sepiapterin reductase -- an enzyme involved in tetrahydrobiopterin biosynthesis. (PubMed id 1883349)1, 2, 3, 9 Ichinose H.... Nagatsu T. (Biochem. Biophys. Res. Commun. 1991)
    2. Mutational analysis of sites in sepiapterin reductase phosphorylated by Ca2+/calmodulin-dependent protein kinase II. (PubMed id 11825621)1, 2, 9 Fujimoto K.... Katoh S. (Biochim. Biophys. Acta 2002)
    3. Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder. (PubMed id 19415819)1, 4, 9 McHugh P.C....Kennedy M.R. (Pharmacogenet. Genomics 2009)
    4. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. (PubMed id 16443856)1, 4, 9 Sharma M....Gasser T. (J. Med. Genet. 2006)
    5. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PubMed id 19491146)1, 4, 9 Clot F....Brice A. (Brain 2009)
    6. Genomic organization and chromosomal localization of the human sepiapterin reductase gene. (PubMed id 9792819)1, 2, 9 Ohye T.... Ichinose H. (Biochem. Biophys. Res. Commun. 1998)
    7. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. (PubMed id 11443547)1, 2, 9 Bonafe L.... Blau N. (Am. J. Hum. Genet. 2001)
    8. Detection of a novel sepiapterin reductase mRNA: assay of mRNA in various cells and tissues of various species. (PubMed id 8440319)1, 2, 9 Maier J.... Ziegler I. (Exp. Cell Res. 1993)
    9. Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (PubMed id 20038947)1, 4 Shyn S.I....Hamilton S.P. (Mol. Psychiatry 2011)
    10. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 6697 HGNC: 11257 AceView: SPR Ensembl:ENSG00000116096 euGenes: HUgn6697
    ECgene: SPR Kegg: 6697 H-InvDB: SPR

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SPR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SPR[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for SPR gene:
    Search GeneIP for patents involving SPR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SPR   OriGene RNAi products in human, mouse, rat for SPR  
     OriGene qPCR primer pairs and template standards for SPR   OriGene Protein Over-expression Lysate for SPR  
     OriGene MassSpec something-or-other for SPR   OriGene clones in human, mouse for SPR  
     OriGene qSTAR qPCR primer pairs in human, mouse for SPR   OriGene Purified Protein for SPR  
     OriGene ORF clones in mouse, rat for SPR   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SPR   OriGene Custom Protein Services for SPR  

     
     
     Block miRNA regulation of human, mouse, rat SPR using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SPR
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPR Predesigned siRNA for gene silencing in human, mouse, rat SPR
     QuantiFast Probe-based Assays in human, mouse, rat SPR QuantiTect SYBR Green Assays in human, mouse, rat SPR
     Custom PCR Arrays for SPR Search Chromatin IP Primers for SPR
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPR  GeneGlobe Interaction Network for SPR
     Regulatory tfbs in SPR promoter
     GenScript Custom Purified and Recombinant Proteins Services for SPR GenScript cDNA clones with any tag delivered in your preferred vector for SPR
     GenScript Custom Assay Services for SPR GenScript Custom overexpressing Cell Line Services for SPR
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SPR (SPRE)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SPR antibodies
     SPR proteins
     SPR lysates
     Antibodies for SPR
     See all of Abcam's Antibodies, Kits and Proteins for SPR
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for SPR
     Proteins for SPR
     Antibodies for SPR
     ELISAs for SPR
     CLIAs for SPR



     Browse ESI BIO Cell Lines and PureStem Progenitors for SPR
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPR
     SwitchGear 3'UTR luciferase reporter plasmids for SPR
     SwitchGear Promoter luciferase reporter plasmids for SPR
     ThermoFisher Antibodies for SPR
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPR
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPR
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPR
     LSBio Antibodies in human, mouse, rat for SPR
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SPR gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4