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 ... See more...

Aliases for SPRED1 Gene

Aliases for SPRED1 Gene

  • Sprouty Related EVH1 Domain Containing 1 2 3 5
  • Sprouty-Related, EVH1 Domain-Containing Protein 1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 147 2 3
  • Spred-1 3 4
  • HSpred1 3 4
  • Suppressor Of Ras/MAPK Activation 3
  • PPP1R147 3
  • LGSS 3
  • NFLS 3

External Ids for SPRED1 Gene

Previous GeneCards Identifiers for SPRED1 Gene

  • GC15P031440
  • GC15P036123
  • GC15P036260
  • GC15P036331
  • GC15P038545
  • GC15P015389

Summaries for SPRED1 Gene

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 Mucosal Melanoma. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein serine/threonine kinase inhibitor activity. An important paralog of this gene is SPRED2.

UniProtKB/Swiss-Prot Summary for SPRED1 Gene

  • 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

Additional gene information for SPRED1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPRED1 Gene

Genomics for SPRED1 Gene

GeneHancer (GH) Regulatory Elements for SPRED1 Gene

Promoters and enhancers for SPRED1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J038250 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505 +2.3 2314 8.4 HNRNPK CTCF ZSCAN5C NRF1 TCF12 MYC POLR2G USF1 NCOR1 GTF2E2 SPRED1 piR-50437-205
GH15J038071 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -179.2 -179229 3.1 ZBTB40 POLR2G PHF8 TEAD4 ZFX CTCF ZNF10 ZIC2 POLR2A KDM6A LINC01852 lnc-TMCO5A-7 SPRED1 lnc-RASGRP1-5
GH15J038068 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -182.9 -182923 2.3 ZNF217 EP300 SP1 FOS JUND RFX1 RELA RCOR1 MXI1 BCL11A SPRED1 LINC01852 lnc-TMCO5A-7 lnc-RASGRP1-5
GH15J038079 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -168.8 -168786 9.8 ZBTB40 SP1 EP300 RELA MEF2C RCOR1 TRIM22 BCL11A TCF12 ZNF316 SPRED1 LINC01852 hsa-miR-5095-153
GH15J038126 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas 10.4 -122.4 -122426 5.3 JUND FOS REST POLR2A HES1 RCOR1 EP300 CTBP1 BCL11A NR2F2 SPRED1 piR-61580-212 lnc-SPRED1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPRED1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPRED1

Top Transcription factor binding sites by QIAGEN in the SPRED1 gene promoter:
  • aMEF-2
  • AML1a
  • FOXF2
  • MEF-2
  • MEF-2A
  • POU2F1
  • POU2F1a
  • POU6F1 (c2)
  • TBP

Genomic Locations for SPRED1 Gene

Genomic Locations for SPRED1 Gene
chr15:38,252,087-38,357,249
(GRCh38/hg38)
Size:
105,163 bases
Orientation:
Plus strand
chr15:38,544,527-38,649,450
(GRCh37/hg19)
Size:
104,924 bases
Orientation:
Plus strand

Genomic View for SPRED1 Gene

Genes around SPRED1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPRED1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPRED1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPRED1 Gene

Proteins for SPRED1 Gene

  • Protein details for SPRED1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z699-SPRE1_HUMAN
    Recommended name:
    Sprouty-related, EVH1 domain-containing protein 1
    Protein Accession:
    Q7Z699
    Secondary Accessions:
    • B2RPJ8
    • Q05D53
    • Q8N256

    Protein attributes for SPRED1 Gene

    Size:
    444 amino acids
    Molecular mass:
    50477 Da
    Quaternary structure:
    • Interacts with Ras. Interacts with TAOK2 and TESK1 (By similarity). Homodimer and heterodimer. Interacts with CAV1. Able to interact with SPRED2 to form heterodimers.
    SequenceCaution:
    • Sequence=AAH18015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPRED1 Gene

neXtProt entry for SPRED1 Gene

Post-translational modifications for SPRED1 Gene

Other Protein References for SPRED1 Gene

No data available for DME Specific Peptides for SPRED1 Gene

Domains & Families for SPRED1 Gene

Gene Families for SPRED1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SPRED1 Gene

Blocks:
  • Sprouty
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPRED1 Gene

GenScript: Design optimal peptide antigens:
  • Sprouty-related, EVH1 domain-containing protein 1 (SPRE1_HUMAN)
genes like me logo Genes that share domains with SPRED1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPRED1 Gene

Function for SPRED1 Gene

Molecular function for SPRED1 Gene

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

Phenotypes From GWAS Catalog for SPRED1 Gene

Gene Ontology (GO) - Molecular Function for SPRED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005173 stem cell factor receptor binding IEA,ISS --
GO:0005515 protein binding IPI 15231748
GO:0019901 protein kinase binding IEA,IPI 18216281
GO:0019902 phosphatase binding IDA 19389623
GO:0030291 protein serine/threonine kinase inhibitor activity IEA,ISS 20736167
genes like me logo Genes that share ontologies with SPRED1: view
genes like me logo Genes that share phenotypes with SPRED1: view

Human Phenotype Ontology for SPRED1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPRED1 Gene

MGI Knock Outs for SPRED1:

Animal Model Products

miRNA for SPRED1 Gene

miRTarBase miRNAs that target SPRED1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SPRED1 Gene

Localization for SPRED1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPRED1 Gene

Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Nucleus. Note=Localized in cholesterol-rich membrane raft/caveola fractions.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPRED1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SPRED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane TAS --
GO:0005901 caveola IEA --
genes like me logo Genes that share ontologies with SPRED1: view

Pathways & Interactions for SPRED1 Gene

PathCards logo

SuperPathways for SPRED1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 Negative regulation of FGFR3 signaling
5 Innate Immune System
genes like me logo Genes that share pathways with SPRED1: view

Pathways by source for SPRED1 Gene

1 Sino Biological pathway for SPRED1 Gene
1 Cell Signaling Technology pathway for SPRED1 Gene

Gene Ontology (GO) - Biological Process for SPRED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000188 inactivation of MAPK activity IEA,ISS --
GO:0006469 negative regulation of protein kinase activity IDA 18216281
GO:0007275 multicellular organism development IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with SPRED1: view

No data available for SIGNOR curated interactions for SPRED1 Gene

Drugs & Compounds for SPRED1 Gene

No Compound Related Data Available

Transcripts for SPRED1 Gene

mRNA/cDNA for SPRED1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPRED1 Gene

No ASD Table

Relevant External Links for SPRED1 Gene

GeneLoc Exon Structure for
SPRED1

Expression for SPRED1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPRED1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPRED1 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPRED1 Gene



Protein tissue co-expression partners for SPRED1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPRED1

SOURCE GeneReport for Unigene cluster for SPRED1 Gene:

Hs.525781

mRNA Expression by UniProt/SwissProt for SPRED1 Gene:

Q7Z699-SPRE1_HUMAN
Tissue specificity: Weakly expressed in embryonic cell line HEK293.

Evidence on tissue expression from TISSUES for SPRED1 Gene

  • Nervous system(4.6)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPRED1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • scalp
  • skull
Limb:
  • arm
  • upper limb
General:
  • hair
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with SPRED1: view

No data available for mRNA differential expression in normal tissues for SPRED1 Gene

Orthologs for SPRED1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPRED1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPRED1 31 30
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SPRED1 31 30
  • 95.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPRED1 31 30
  • 93.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Spred1 17 31 30
  • 91.5 (n)
rat
(Rattus norvegicus)
Mammalia Spred1 30
  • 90.82 (n)
oppossum
(Monodelphis domestica)
Mammalia SPRED1 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPRED1 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPRED1 31 30
  • 83.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPRED1 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spred1 30
  • 67.93 (n)
zebrafish
(Danio rerio)
Actinopterygii spred1 31 30
  • 62.21 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Spred 31
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10713 31
  • 25 (a)
OneToMany
Species where no ortholog for SPRED1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPRED1 Gene

ENSEMBL:
Gene Tree for SPRED1 (if available)
TreeFam:
Gene Tree for SPRED1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPRED1: view image

Paralogs for SPRED1 Gene

Paralogs for SPRED1 Gene

(3) SIMAP similar genes for SPRED1 Gene using alignment to 3 proteins:

  • SPRE1_HUMAN
  • H0YMN8_HUMAN
  • L8EBE5_HUMAN
genes like me logo Genes that share paralogs with SPRED1: view

Variants for SPRED1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPRED1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
636493 Likely Pathogenic: not provided 38,351,228(+) CTAAGT/C FRAMESHIFT_VARIANT
636663 Likely Pathogenic: not provided 38,322,357(+) T/TGCTA NONSENSE
640062 Uncertain Significance: Legius syndrome 38,351,618(+) G/C MISSENSE_VARIANT
640126 Uncertain Significance: Legius syndrome 38,324,781(+) A/G MISSENSE_VARIANT
640306 Pathogenic: Legius syndrome 38,351,228(+) C/CT NONSENSE

Additional dbSNP identifiers (rs#s) for SPRED1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SPRED1 Gene

Variant ID Type Subtype PubMed ID
esv3892674 CNV gain 25118596
esv6112 CNV gain 19470904
nsv1050521 CNV loss 25217958
nsv510394 OTHER sequence alteration 20534489
nsv569204 CNV loss 21841781
nsv832973 CNV gain 17160897
nsv832974 CNV loss 17160897
nsv94413 CNV deletion 16902084

Variation tolerance for SPRED1 Gene

Residual Variation Intolerance Score: 57.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPRED1 Gene

Human Gene Mutation Database (HGMD)
SPRED1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPRED1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPRED1 Gene

Disorders for SPRED1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SPRED1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
legius syndrome
  • lgss
mucosal melanoma
skin granular cell tumor
  • granular cell neoplasm of the skin
juvenile myelomonocytic leukemia
  • jmml
cardiofaciocutaneous syndrome 1
  • cfc1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPRE1_HUMAN
  • Legius syndrome (LGSS) [MIM:611431]: An autosomal dominant syndrome 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 features of attention-deficit hyperactivity disorder. {ECO:0000269 PubMed:17704776, ECO:0000269 PubMed:19443465, ECO:0000269 PubMed:20108422, ECO:0000269 PubMed:21089071}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SPRED1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPRED1: view

No data available for Genatlas for SPRED1 Gene

Publications for SPRED1 Gene

  1. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. (PMID: 19443465) Spurlock G … Upadhyaya M (Journal of medical genetics 2009) 3 4 41 54
  2. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. (PMID: 19920235) Messiaen L … Legius E (JAMA 2009) 3 23 41 54
  3. The Sprouty-related protein, Spred-1, localizes in a lipid raft/caveola and inhibits ERK activation in collaboration with caveolin-1. (PMID: 16115197) Nonami A … Yoshimura A (Genes to cells : devoted to molecular & cellular mechanisms 2005) 3 4 23 54
  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. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  5. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. (PMID: 17704776) Brems H … Legius E (Nature genetics 2007) 3 4 54

Products for SPRED1 Gene

Sources for SPRED1 Gene