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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPR Gene

protein-coding   GIFtS: 69
GCID: GC02P073026

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

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(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

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

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 sepiapterin reductase deficiency, and dopa-responsive dystonia due to sepiapterin reductase deficiency, and among its related super-pathways are Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SPR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPRE_HUMAN, P35270 (See protein sequence)
Recommended Name: Sepiapterin reductase  
Size: 261 amino acids; 28048 Da
Subunit: Homodimer
Subcellular location: Cytoplasm
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:

  • UniProtKB: In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35270

  • 2 DME Specific Peptides for SPR (P35270)
     SGAHVDFYD  MQQLARETS 

    SPR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPR Protein Expression
    REFSEQ proteins: NP_003115.1  
    ENSEMBL proteins: 
     ENSP00000234454  
    Reactome Protein details: P35270
    Human Recombinant Protein Products for SPR: 
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    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    SPR for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  homeostasis/metabolism  mortality/aging  nervous system 

    SPR for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SPR:
    hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidSPR 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPR


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SPR About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of nitric oxide
    Metabolism of nitric oxide0.59
    tetrahydrobiopterin biosynthesis II0.30
    Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation0.59
    tetrahydrobiopterin biosynthesis I0.30
    eNOS activation and regulation0.59
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Folate biosynthesis
    Folate biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SPR
        tetrahydrobiopterin biosynthesis I
    tetrahydrobiopterin biosynthesis II

    4        Reactome Pathways for SPR
        eNOS activation and regulation
    Metabolism of nitric oxide
    Metabolism
    Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation


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


    SPR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPR

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for SPR (P352702, 3 ENSP000002344544) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3MINT-3304560 I2D: score=1 
    CAMK2GQ135553, ENSP000003190604I2D: score=1 STRING: ENSP00000319060
    YWHAQP273483, ENSP000002380814I2D: score=1 STRING: ENSP00000238081
    C12orf44Q9BSB43I2D: score=1 
    QDPRENSP000002812434STRING: ENSP00000281243
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPR for compounds           About GeneDecksing

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

    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

    10/17 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)

    Search CenterWatch for drugs/clinical trials and news about SPR / SPRE

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    Inhib. RNA
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    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 

    24/181 AceView cDNA sequences (see all 181):

    BQ681529 NM_003124 BU185346 CB136692 CA416259 BQ438014 AI144403 AI474949 
    AW950012 CD673155 BM817436 BQ926641 BX413078 AA399128 BC017310 BE395859 
    BG337389 AW275934 CA427814 BU190411 AI339518 BM757660 BE904122 BF725188 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPR expression in normal human tissues (normalized intensities)      SPR embryonic expression: see
    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 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Eye (Sensory Organs)
             Retina
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See SPR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPR

    SOURCE GeneReport for Unigene cluster: Hs.301540
        SABiosciences Custom PCR Arrays for SPR
    Primer
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    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

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

    Orthologs for SPR gene from 7/14 species (see all 14)    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_423038.3  XP_423038.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPR6
    Uncharacterized protein
    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 60.39(n)
    52.55(a)
      554136  NM_001024430.1  NP_001019601.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sptr1 , 3 sepiapterin reductase3
    Sepiapterin reductase1
    33(a)3
    46.75(n)1
    34.66(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
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/146 SNPs in SPR are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 19 diseases for SPR:    About MalaCards
    sepiapterin reductase deficiency    dopa-responsive dystonia due to sepiapterin reductase deficiency    dopa-responsive dystonia    dihydropteridine reductase deficiency
    hypersomnia    tetrahydrobiopterin deficiency    cervical dystonia    hyperphenylalaninemia
    bladder transitional cell carcinoma    neurologic diseases    phenylketonuria    parkinson's disease
    spina bifida    transitional cell carcinoma    bipolar disorder    spasticity
    neuroblastoma    cervicitis    endotheliitis

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

    SPR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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

    PubMed articles for SPR gene, integrated from 9 sources (see all 100):
    (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. (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. (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. (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. (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. (2009)
    6. Genomic organization and chromosomal localization of the human sepiapterin reductase gene. (PubMed id 9792819)1, 2, 9 Ohye T.... Ichinose H. (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. (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. (1993)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    10. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 6697 HGNC: 11257 AceView: SPR Ensembl:ENSG00000116096 euGenes: HUgn6697
    ECgene: SPR Kegg: 6697 H-InvDB: SPR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPR

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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