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    SPRED1 sprouty related EVH1 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 161742, updated on 25-Aug-2016
    Official Symbol
    SPRED1provided by HGNC
    Official Full Name
    sprouty related EVH1 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:20249
    See related
    Ensembl:ENSG00000166068 HPRD:11601; MIM:609291; Vega:OTTHUMG00000172377
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NFLS; hSpred1; spred-1; PPP1R147
    Summary
    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]
    Orthologs
    Location:
    15q14
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (38252087..38357249)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (38544925..38649450)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984774 Neighboring gene uncharacterized LOC101928227 Neighboring gene uncharacterized LOC107984773 Neighboring gene uncharacterized LOC107984760 Neighboring gene CTD small phosphatase 2 pseudogene Neighboring gene family with sequence similarity 98 member B Neighboring gene uncharacterized LOC105370774 Neighboring gene RAS guanyl releasing protein 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Legius syndrome
    MedGen: C1969623 OMIM: 611431 GeneReviews: Legius Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-03-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-03-14)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
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    • FRS-mediated FGFR1 signaling, organism-specific biosystem (from REACTOME)
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      Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem
      Signaling events mediated by Stem cell factor receptor (c-Kit)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ33903

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phosphatase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein serine/threonine kinase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    stem cell factor receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    inactivation of MAPK activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of peptidyl-threonine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of DNA damage response, signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of protein deacetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    caveola IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    sprouty-related, EVH1 domain-containing protein 1
    Names
    protein phosphatase 1, regulatory subunit 147
    suppressor of Ras/MAPK activation

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008980.1 RefSeqGene

      Range
      5001..109399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152594.2NP_689807.1  sprouty-related, EVH1 domain-containing protein 1

      See identical proteins and their annotated locations for NP_689807.1

      Status: REVIEWED

      Source sequence(s)
      AC069381, AY299089, DA405650
      Consensus CDS
      CCDS32193.1
      UniProtKB/Swiss-Prot
      Q7Z699
      Related
      ENSP00000299084, OTTHUMP00000248269, ENST00000299084, OTTHUMT00000418217
      Conserved Domains (2) summary
      cd10574
      Location:13125
      EVH1_SPRED-like; Sprouty-related EVH1 domain-containing-like proteins EVH1 domain
      pfam05210
      Location:333428
      Sprouty; Sprouty protein (Spry)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      38252087..38357249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254202.3XP_005254259.1  

      Conserved Domains (2) summary
      pfam05210
      Location:344440
      Sprouty; Sprouty protein (Spry)
      cd10574
      Location:25137
      EVH1_SPRED-like; Sprouty-related EVH1 domain-containing-like proteins EVH1 domain
    2. XM_011521289.2XP_011519591.1  

      See identical proteins and their annotated locations for XP_011519591.1

      Conserved Domains (2) summary
      cd10574
      Location:1104
      EVH1_SPRED-like; Sprouty-related EVH1 domain-containing-like proteins EVH1 domain
      pfam05210
      Location:312407
      Sprouty; Sprouty protein (Spry)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      38664324..38768708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)