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

SPR Gene

protein-coding   GIFtS: 67
GCID: GC02P073026

sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)

 Explore 15 diseases affiliated with
SPR via our new
 Human Malady Compendium 
Biological research products
for SPR
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase)1 2
SDR38C11 2
EC 1.1.1.1533 8
Sepiapterin Reductase2
Short Chain Dehydrogenase/Reductase Family 38C, Member 12

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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
1 PDB 3D structure from and Proteopedia for SPR:
1Z6Z (3D)    
Secondary accessions: A8K741 D6W5H2 Q53GI9 Q9UBB1

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

Post-translational modifications:

  • In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35270

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

    SPR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003115.1  
    ENSEMBL proteins: 
     ENSP00000234454  
    Reactome Protein details: P35270
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for SPR
    Uscn 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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SPR for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB002198 Short-chain dehydrogenase/reductase SDR

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SPR:
    hsa-miR-3714
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    Inhib. RNA
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    Gene Ontology (GO): 3 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:0050661NADP binding TAS1883349


    SPR for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for SPR: Sprtm1Lex Sprtm1Spo
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism of nitric oxide
    eNOS activation and regulation1.00
    tetrahydrobiopterin biosynthesis II0.18
    Metabolism of nitric oxide1.00
    tetrahydrobiopterin biosynthesis I0.18
    Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation0.59
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Folate biosynthesis
    Folate biosynthesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for SPR 
        tetrahydrobiopterin biosynthesis II
    tetrahydrobiopterin biosynthesis I

    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006729tetrahydrobiopterin biosynthetic process TAS1883349
    GO:0006809nitric oxide biosynthetic process IDA15197144
    GO:0044281small molecule metabolic process TAS--
    GO:0046209nitric oxide metabolic process TAS--
    GO:0050999regulation of nitric-oxide synthase activity TAS--


    SPR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 235 Homo sapiens; Mar 10 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,
    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, 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

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    Inhib. RNA
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    Additional cDNA 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):

    AW950012 CA427814 AI858977 CB160993 BU185346 S71376 BM982265 BM714162 
    BM976526 CD673155 M76231 BQ681529 AA344925 CA455162 BQ680362 AU142468 
    BM560296 BF182777 BQ926641 AA399128 BC017310 BX413078 BM817436 NM_003124 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCCAGCCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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
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    In Situ
    Assay Products:
     

     
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    (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.

    Orthologs for SPR gene from 6/22 species (see all 22)    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
    --
    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 


    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, UniProtKB, 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

    10/100 NCBI SNPs in SPR are shown (see all 100    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048936651,2
    C,Fpathogenic72851184(+) TCAACA/GGAACC 2 R G mis11Minor allele frequency- G:0.00NA 4552
    rs1048936661,2
    Cpathogenic72851224(+) GCAACC/TTTTCA 2 P L mis10--------
    rs772670551,2
    F,--72848196(+) TGCCAA/TTAACT 1 -- us2k11Minor allele frequency- T:0.07EA 120
    rs784893771,2
    C,--72848629(+) TTGTTC/TCCTCC 1 -- us2k12Minor allele frequency- T:0.07CSA WA 120
    rs739456361,2
    C,--72848704(+) TCGTGC/TTTTCA 1 -- us2k12Minor allele frequency- T:0.07WA 120
    rs67427281,2
    C,F,H,--72849199(+) TTACTG/TCCCTT 1 -- us2k111Minor allele frequency- T:0.03NS EA NA CSA WA 1378
    rs1125094811,2
    C,--72850686(+) GGTTTT/GCCAAA 1 -- int12Minor allele frequency- G:0.09CSA WA 120
    rs598398211,2
    C,F,--72850915(+) CTCTTC/AAGAAG 1 -- int13Minor allele frequency- A:0.08CSA WA 122
    rs792194531,2
    F,--72852065(+) AGTCTC/ATTTTA 1 -- int11Minor allele frequency- A:0.03NA 120
    rs714167661,2
    C,--72853314(+) CTGCCT/CGCCTC 1 -- int12Minor allele frequency- C:0.25NA 4

    HapMap Linkage Disequilibrium report for SPR (73114489 - 73119289 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPR
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    (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

    SPR for disorders           About GeneDecksing

    OMIM gene information: 182125   
    OMIM disorders: 612716  
    UniProtKB/Swiss-Prot: SPRE_HUMAN, P35270
  • Defects in SPR are the cause of dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD)
  • [MIM:612716]. 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

    15 diseases for SPR:    About MalaCards
    dopa-responsive dystonia    sepiapterin reductase deficiency    dihydropteridine reductase deficiency    hyperphenylalaninemia
    tetrahydrobiopterin deficiency    spina bifida    hypersomnia    cervical dystonia
    phenylketonuria    parkinson's disease    bipolar disorder    neurologic diseases
    spasticity    cervicitis    neuroblastoma

    2 diseases from the University of Copenhagen DISEASES database for SPR:
    Phenylketonuria     Bladder transitional cell carcinoma

    3 Novoseek 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)

    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 98):
    (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. Genomic organization and chromosomal localization of the human sepiapterin reductase gene. (PubMed id 9792819)1, 2, 9 Ohye T.... Ichinose H. (1998)
    4. 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)
    5. 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)
    6. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Sepiapterin reductase expression is increased in Parkinson's disease brain tissue. (PubMed id 17270157)1, 9 Tobin J.E....Myers R.H. (2007)
    9. Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder. (PubMed id 19415819)1, 9 McHugh P.C....Kennedy M.R. (2009)
    10. 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, 9 Sharma M....Gasser T. (2006)

    (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



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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