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

Gene ID: 161742, updated on 23-Nov-2021

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
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
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Genomic context

See SPRED1 in Genome Data Viewer
Location:
15q14
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (38252087..38357249)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (38545037..38649450)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984774 Neighboring gene long intergenic non-protein coding RNA 2345 Neighboring gene long intergenic non-protein coding RNA 1852 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

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
Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
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)

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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
    Q7Z699
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005254202.3XP_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)
  2. XM_011521289.3XP_011519591.1  sprouty-related, EVH1 domain-containing protein 1 isoform X2

    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)
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