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

    Gene ID: 161742, updated on 1-Mar-2024

    Summary

    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 MIM:609291; AllianceGenome:HGNC:20249
    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
    LGSS; 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 21.9), brain (RPKM 13.6) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SPRED1 in Genome Data Viewer
    Location:
    15q14
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (38252836..38357249)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (36058115..36162546)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (38545037..38649450)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene transmembrane and coiled-coil domains 5A Neighboring gene long intergenic non-protein coding RNA 2345 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:38364669-38365534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6298 Neighboring gene long intergenic non-protein coding RNA 1852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9200 Neighboring gene Sharpr-MPRA regulatory region 4108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6304 Neighboring gene MPRA-validated peak2297 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:38679220-38679403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9203 Neighboring gene CTD small phosphatase 2 pseudogene Neighboring gene uncharacterized LOC105370774 Neighboring gene family with sequence similarity 98 member B Neighboring gene RAS guanyl releasing protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ33903

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables stem cell factor receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in negative regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell migration involved in sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of lens fiber cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of peptidyl-threonine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of MAPK cascade TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of protein deacetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in vasculogenesis involved in coronary vascular morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in caveola IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    sprouty-related, EVH1 domain-containing protein 1
    Names
    protein phosphatase 1, regulatory subunit 147
    suppressor of Ras/MAPK activation

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4986..109399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152594.3NP_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
      B2RPJ8, Q05D53, Q7Z699, Q8N256
      Related
      ENSP00000299084.4, ENST00000299084.9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      38252836..38357249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432199.1XP_047288155.1  sprouty-related, EVH1 domain-containing protein 1 isoform X2

    2. XM_047432200.1XP_047288156.1  sprouty-related, EVH1 domain-containing protein 1 isoform X2

    3. XM_005254202.4XP_005254259.1  sprouty-related, EVH1 domain-containing protein 1 isoform X1

      Conserved Domains (2) summary
      cd10574
      Location:25137
      EVH1_SPRED-like; Sprouty-related EVH1 domain-containing-like proteins EVH1 domain
      pfam05210
      Location:345440
      Sprouty; Sprouty protein (Spry)
    4. XM_047432201.1XP_047288157.1  sprouty-related, EVH1 domain-containing protein 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      36058115..36162546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377382.1XP_054233357.1  sprouty-related, EVH1 domain-containing protein 1 isoform X2

    2. XM_054377383.1XP_054233358.1  sprouty-related, EVH1 domain-containing protein 1 isoform X2

    3. XM_054377381.1XP_054233356.1  sprouty-related, EVH1 domain-containing protein 1 isoform X1