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SPRED1 Gene

protein-coding   GIFtS: 61
GCID: GC15P038545

Sprouty-Related, EVH1 Domain Containing 1

  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)
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Aliases
Sprouty-Related, EVH1 Domain Containing 11 2     Sprouty-Related, EVH1 Domain-Containing Protein 12
hSpred12 3     Suppressor Of Ras/MAPK Activation2
NFLS2 5     Spred-13
spred-12     

External Ids:    HGNC: 202491   Entrez Gene: 1617422   Ensembl: ENSG000001660687   OMIM: 6092915   UniProtKB: Q7Z6993   

Export aliases for SPRED1 gene to outside databases

Previous GC identifers: GC15P031440 GC15P036123 GC15P036260 GC15P036331 GC15P015389


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SPRED1 Gene:
The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine
kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with
SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis
type 1-like syndrome (NFLS). (provided by RefSeq, Jul 2008)

GeneCards Summary for SPRED1 Gene:
SPRED1 (sprouty-related, EVH1 domain containing 1) is a protein-coding gene. Diseases associated with SPRED1 include legius syndrome, and optic disk drusen. GO annotations related to this gene include protein kinase binding and stem cell factor receptor binding. An important paralog of this gene is SPRED3.

UniProtKB/Swiss-Prot: SPRE1_HUMAN, Q7Z699
Function: Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively
regulates hematopoiesis of bone marrow (By similarity)

Gene Wiki entry for SPRED1 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)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPRED1 gene promoter:
         TBP   AML1a   FOXF2   MEF-2   POU6F1 (c2)   MEF-2A   POU2F1   POU2F1a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPRED1 promoter sequence
   Search Chromatin IP Primers for SPRED1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPRED1


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q14

SPRED1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRED1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P038545:  view genomic region     (about GC identifiers)

Start:
38,544,527 bp from pter      End:
38,649,450 bp from pter
Size:
104,924 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.)
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UniProtKB/Swiss-Prot: SPRE1_HUMAN, Q7Z699 (See protein sequence)
Recommended Name: Sprouty-related, EVH1 domain-containing protein 1  
Size: 444 amino acids; 50477 Da
Subunit: Interacts with Ras. Interacts with TAOK2 and TESK1 (By similarity). Homodimer and heterodimer. Interacts
with CAV1. Able to interact with SPRED2 to form heterodimers
Sequence caution: Sequence=AAH18015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
1 PDB 3D structure from and Proteopedia for SPRED1:
3SYX (3D)    
Secondary accessions: B2RPJ8 Q05D53 Q8N256

Explore the universe of human proteins at neXtProt for SPRED1: NX_Q7Z699

Explore proteomics data for SPRED1 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPRED1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689807.1  
    ENSEMBL proteins: 
     ENSP00000299084   ENSP00000453680  

    SPRED1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SPRED1
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    Novus Biologicals SPRED1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPRED1

    SPRED1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SPRED1
    R&D Systems Antibodies for SPRED1
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    Abcam antibodies for SPRED1
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    LSBio Antibodies in human, mouse, rat for SPRED1

    SPRED1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPRED1
    Cloud-Clone Corp. CLIAs for SPRED1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR007875 Sprouty
     IPR011993 PH_like_dom
     IPR000697 WH1/EVH1
     IPR023337 KBD

    Graphical View of Domain Structure for InterPro Entry Q7Z699

    ProtoNet protein and cluster: Q7Z699

    1 Blocks protein domain: IPB007875 Sprouty

    UniProtKB/Swiss-Prot: SPRE1_HUMAN, Q7Z699
    Similarity: Contains 1 KBD domain
    Similarity: Contains 1 SPR (sprouty) domain
    Similarity: Contains 1 WH1 domain


    SPRED1 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPRE1_HUMAN, Q7Z699
    Function: Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively
    regulates hematopoiesis of bone marrow (By similarity)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005173stem cell factor receptor binding ISS--
    GO:0005515protein binding IPI15231748
    GO:0019901protein kinase binding IPI--
    GO:0019902phosphatase binding IDA19389623
    GO:0030291protein serine/threonine kinase inhibitor activity ISS--
         
    SPRED1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPRED1:
     Decreased viability 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Spred1):
     behavior/neurological  craniofacial  growth/size/body  hematopoietic system  immune system 
     limbs/digits/tail  nervous system  respiratory system 

    SPRED1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Spred1tm1Hiin for SPRED1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPRED1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPRED1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPRED1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPRED1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPRED1:
    hsa-mir-375 (MIRT019967), hsa-mir-16-5p (MIRT031930), hsa-mir-132-3p (MIRT021849), hsa-mir-93-5p (MIRT028118), hsa-mir-103a-3p (MIRT027190), hsa-mir-335-5p (MIRT018666), hsa-mir-126-3p (MIRT000343)

    Block miRNA regulation of human, mouse, rat SPRED1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPRED1 (see all 187):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-520f hsa-miR-106a hsa-miR-519a hsa-miR-4275 hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidSPRED1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPRED1
    Predesigned siRNA for gene silencing in human, mouse, rat SPRED1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPRED1

    Clone
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    OriGene clones in human, mouse for SPRED1 (see all 6)
    OriGene ORF clones in mouse, rat for SPRED1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPRED1 (NM_152594)
    Sino Biological Human cDNA Clone for SPRED1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPRED1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPRED1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SPRED1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPRED1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPRE1_HUMAN, Q7Z699: Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein.
    Nucleus. Note=Localized in cholesterol-rich membrane raft/caveola fractions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytosol3
    cytoskeleton1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane ----
    GO:0005901caveola IEA--

    SPRED1 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).
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    SuperPaths for SPRED1 About    
    See pathways by source

    SuperPathContained pathways About
    1Kit Receptor Signaling Pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37
    Kit Receptor Signaling Pathway0.37
    2Regulation of Microtubule Cytoskeleton
    Regulation of Microtubule Cytoskeleton
    3Jak-STAT signaling pathway
    Jak-STAT signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for SPRED1
        Kit Receptor Signaling Pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)
    Regulation of Microtubule Cytoskeleton



    1 Kegg Pathway  (Kegg details for SPRED1):
        Jak-STAT signaling pathway


    SPRED1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SPRED1: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SPRED1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SPRED1 (Q7Z6991, 2, 3 ENSP000002990844) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAP621361, 2, 3, ENSP000003260314EBI-5235340,EBI-357253 MINT-62190 I2D: score=3 STRING: ENSP00000326031
    TTC19Q6DKK22, 3, ENSP000002616474MINT-8275677 I2D: score=2 STRING: ENSP00000261647
    CDKN1AP389362, 3MINT-8252257 I2D: score=2 
    DNAJB11Q9UBS42, 3MINT-8254298 I2D: score=2 
    FAM118BQ9BPY32, 3MINT-8255233 I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000188inactivation of MAPK activity ISS--
    GO:0007275multicellular organismal development IEA--
    GO:0009966regulation of signal transduction ----
    GO:0010801negative regulation of peptidyl-threonine phosphorylation IMP--
    GO:0010923negative regulation of phosphatase activity IDA19389623

    SPRED1 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPRED1 (SPRE1)



    (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 )
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    REFSEQ mRNAs for SPRED1 gene: 
    NM_152594.2  

    Unigene Cluster for SPRED1:

    Sprouty-related, EVH1 domain containing 1
    Hs.525781  [show with all ESTs]
    Unigene Representative Sequence: NM_152594
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299084(uc001zka.4) ENST00000561205 ENST00000561317
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPRED1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPRED1 (see all 187):
    hsa-miR-411* hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-520f hsa-miR-106a hsa-miR-519a hsa-miR-4275 hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidSPRED1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPRED1
    Predesigned siRNA for gene silencing in human, mouse, rat SPRED1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPRED1 (NM_152594)
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    Primer
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    OriGene qPCR primer pairs and template standards for SPRED1
    OriGene qSTAR qPCR primer pairs in human, mouse for SPRED1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPRED1
      QuantiTect SYBR Green Assays in human, mouse, rat SPRED1
      QuantiFast Probe-based Assays in human, mouse, rat SPRED1

    Additional mRNA sequence: 

    AK091222.1 AK095219.1 AL833561.1 AY299089.1 BC018015.1 BC137480.1 BC137481.1 BX538234.1 

    8 DOTS entries:

    DT.40106859  DT.91901809  DT.91874375  DT.100780094  DT.97778989  DT.75150117  DT.95179405  DT.91799898 

    Selected AceView cDNA sequences (see all 112):

    BU753010 CK824662 AA678672 BG548770 BC018015 AA970844 AA565605 AL119827 
    BM263824 BM264115 AI742347 BQ961421 AW612605 BM837523 BF592872 BF512854 
    AI270700 AI392710 BE502726 AK095219 AW269789 AI935412 AW172897 AI401176 

    GeneLoc Exon Structure


    (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)
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    SPRED1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPRED1 Expression
    About this image


    SPRED1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
    SPRED1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPRED1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.525781

    UniProtKB/Swiss-Prot: SPRE1_HUMAN, Q7Z699
    Tissue specificity: Weakly expressed in embryonic cell line HEK293

        Pathway & Disease-focused RT2 Profiler PCR Array including SPRED1: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SPRED1
    OriGene qSTAR qPCR primer pairs in human, mouse for SPRED1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPRED1
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    QuantiFast Probe-based Assays in human, mouse, rat SPRED1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPRED1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SPRED1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spred11 , 5 sprouty protein with EVH-1 domain 1, related sequence1, 5 91.5(n)1
    93.45(a)1
      2 (59.03 cM)5
    1147151  NM_033524.31  NP_277059.11 
     1171213745 
    chicken
    (Gallus gallus)
    Aves SPRED11 sprouty-related, EVH1 domain containing 1 83.09(n)
    84.63(a)
      423292  NM_001199709.1  NP_001186638.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPRED16
    sprouty-related, EVH1 domain containing 1
    74(a)
    1 ↔ 1
    1(32543214-32606759)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF264274.12   -- 75.62(n)    CF264274.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spred11 sprouty-related, EVH1 domain containing 1 62.21(n)
    63.75(a)
      406513  NM_213232.1  NP_998397.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spred6
    Sprouty-related protein with EVH-1 domain
    31(a)
    1 → many
    2R(10647151-10656927)


    ENSEMBL Gene Tree for SPRED1 (if available)
    TreeFam Gene Tree for SPRED1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPRED1 gene
    SPRED32  ENAH2  VASP2  EVL2  SPRED22  
    3 SIMAP similar genes for SPRED1 using alignment to 3 protein entries:     SPRE1_HUMAN (see all proteins):
    SPRED2    EVL    SPRED3

    SPRED1 for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for SPRED1 (see all 2195)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0648274
    Neurofibromatosis 1-like syndrome (NFLS)4--see VAR_0648272 W C mis40--------
    VAR_0648284
    Neurofibromatosis 1-like syndrome (NFLS)4--see VAR_0648282 V D mis40--------
    rs37515261,2
    C,F,Hnon-pathogenic125950025(-) CCCCTG/AACATT 2 /V syn133Minor allele frequency- A:0.20EA NA NS WA CSA EU 9934
    rs71824451,2
    C,F,A,Hnon-pathogenic125979074(+) GACAAA/GAAGTT 2 K syn1 ese332Minor allele frequency- G:0.19NA NS EA WA CSA EU 8275
    rs1214343141,2
    Cpathogenic125951924(+) AGCGGC/G/TAAATA 2 Q * stg10--------
    rs1878776801,2
    --15387725(+) TAATAG/TAATTT 1 -- us2k10--------
    rs1925603981,2
    --15387971(+) CGTTCC/TGGCTG 1 -- us2k10--------
    rs791969671,2
    --15387978(+) GCTGCA/GCCAGA 1 -- us2k10--------
    rs1179486351,2
    C,F--15388013(+) CTTCAA/GTGGAA 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs1497766631,2
    C--15388124(+) ACACAC/TATACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPRED1 (38544527 - 38649450 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SPRED1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832974CNV Loss17160897
    nsv510394CNV Loss20534489
    dgv2357n71CNV Loss21882294
    nsv94413CNV Loss16902084
    esv6112CNV Gain19470904
    nsv832973CNV Gain17160897

    Human Gene Mutation Database (HGMD): SPRED1
    Locus Specific Mutation Databases (LSDB): SPRED1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609291   
    OMIM disorders: 611431  
    UniProtKB/Swiss-Prot: SPRE1_HUMAN, Q7Z699
  • Neurofibromatosis 1-like syndrome (NFLS) [MIM:611431]: A disorder characterized mainly by cafe au lait
    macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and
    macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning
    disabilities and attention deficit-hyperactivity. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 14 diseases for SPRED1:    
    About MalaCards
    legius syndrome    optic disk drusen    neurofibromatosis    hypersomnia
    learning disability    noonan syndrome    neurofibroma    lipoma
    inflammatory bowel disease    hepatocellular carcinoma    leukemia    multiple myeloma
    myeloma    malaria

    2 diseases from the University of Copenhagen DISEASES database for SPRED1:
    Neurofibromatosis     Optic disk drusen

    SPRED1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPRED1
    Human Genome Epidemiology (HuGE) Navigator: SPRED1 (5 documents)

    Export disorders for SPRED1 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)
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    PubMed articles for SPRED1 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with SPRED1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. (PubMed id 19443465)1, 2, 4 Spurlock G.... Upadhyaya M. (J. Med. Genet. 2009)
    2. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. (PubMed id 19920235)1, 4, 9 Messiaen L....Legius E. (JAMA 2009)
    3. The Sprouty-related protein, Spred-1, localizes in a lipid raft/caveola and inhibits ERK activation in collaboration with caveolin-1. (PubMed id 16115197)1, 2, 9 Nonami A.... Yoshimura A. (Genes Cells 2005)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. (PubMed id 17704776)1, 2 Brems H.... Legius E. (Nat. Genet. 2007)
    6. Distinct requirements for the Sprouty domain for functional activity of Spred proteins. (PubMed id 15683364)1, 2 King J.A.J.... Hovens C.M. (Biochem. J. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Spred-2 steady-state levels are regulated by phosphorylation and Cbl- mediated ubiquitination. (PubMed id 17094949)1, 9 Lock P.... Stylli S.S. (Biochem. Biophys. Res. Commun. 2006)
    9. Association of Piebaldism, multiple cafAc-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). (PubMed id 23016555)1 Chiu Y.E....Siegel D.H. (Pediatr Dermatol 2013)
    10. Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia. (PubMed id 23646285)1 Khor S.S....Tokunaga K. (PeerJ 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 161742 HGNC: 20249 AceView: SPRED1 Ensembl:ENSG00000166068 euGenes: HUgn161742
    ECgene: SPRED1 Kegg: 161742 H-InvDB: SPRED1

    (According to HUGE)
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      --

    (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

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    NameDescription
    PharmGKB entry for SPRED1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SPRED1 gene:
    Search GeneIP for patents involving SPRED1

    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
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