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Aliases for SPRED1 Gene

Aliases for SPRED1 Gene

  • Sprouty Related EVH1 Domain Containing 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 147 2 3
  • Spred-1 3 4
  • HSpred1 3 4
  • Sprouty-Related, EVH1 Domain-Containing Protein 1 3
  • Suppressor Of Ras/MAPK Activation 3
  • PPP1R147 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 Neurofibromatosis, Type 1. Among its related pathways are RET signaling and Immune System. 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 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPRED1 Gene

Genomics for SPRED1 Gene

Regulatory Elements for SPRED1 Gene

Enhancers for SPRED1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F038083 1.4 FANTOM5 Ensembl ENCODE 10.6 -166.8 -166786 3.0 PKNOX1 TBL1XR1 BMI1 FEZF1 EGR1 CBX5 ZNF207 ETV6 CREM EGR2 SPRED1 ENSG00000236914 ENSG00000259380
GH15F038126 1.4 FANTOM5 Ensembl ENCODE 10.4 -122.4 -122426 5.3 ATF1 TBL1XR1 SIN3A ZBTB40 ZNF766 GATA2 ETV6 FOS CREM EGR2 SPRED1 ENSG00000236914 ENSG00000259380
GH15F038216 1.1 Ensembl ENCODE 11.6 -34.2 -34173 2.1 ELF3 HDAC1 PKNOX1 RARA GATA2 SCRT2 FOS EGR2 SP5 CEBPB SPRED1 ENSG00000259380 ENSG00000236914
GH15F038071 1 ENCODE 10.7 -179.2 -179230 3.1 ARID4B DMAP1 ZNF48 MXD4 TBX21 KAT8 SSRP1 SMARCA4 ZNF585B MXD3 SPRED1 FAM98B ENSG00000236914 LOC101928227
GH15F038373 1 Ensembl ENCODE 10.7 +124.3 124311 5.4 HDGF PKNOX1 EED ZNF207 CREM MAFK ZBTB11 JUNB TRIM22 ATF2 SPRED1 GC15P038333 FAM98B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPRED1 on UCSC Golden Path with GeneCards custom track

Promoters for SPRED1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000406209 1913 6401 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Location for SPRED1 Gene

Chromosome:
15
Start:
38,252,087 bp from pter
End:
38,357,249 bp from pter
Size:
105,163 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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SPRED1 (SPRED1)

No data available for DME Specific Peptides for SPRED1 Gene

Domains & Families for SPRED1 Gene

Gene Families for SPRED1 Gene

Protein Domains for SPRED1 Gene

Suggested Antigen Peptide Sequences for SPRED1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z699

UniProtKB/Swiss-Prot:

SPRE1_HUMAN :
  • Contains 1 KBD domain.
Domain:
  • Contains 1 KBD domain.
  • Contains 1 SPR (sprouty) domain.
  • Contains 1 WH1 domain.
genes like me logo Genes that share domains with SPRED1: view

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).

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 IPI 20736167
GO:0019902 phosphatase binding IDA 19389623
GO:0030291 protein serine/threonine kinase inhibitor activity 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 1
cytoskeleton 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SPRED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with SPRED1: view

Pathways & Interactions for SPRED1 Gene

SuperPathways for SPRED1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 Negative regulation of FGFR1 signaling
5 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:0007275 multicellular organism development IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0009966 regulation of signal transduction IEA --
genes like me logo Genes that share ontologies with SPRED1: view

No data available for SIGNOR curated interactions for SPRED1 Gene

Transcripts for SPRED1 Gene

Unigene Clusters for SPRED1 Gene

Sprouty-related, EVH1 domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for SPRED1 Gene



Protein tissue co-expression partners for SPRED1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPRED1 Gene:

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.
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 34 35
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia SPRED1 34 35
  • 95.1 (n)
cow
(Bos Taurus)
Mammalia SPRED1 34 35
  • 93.67 (n)
mouse
(Mus musculus)
Mammalia Spred1 34 16 35
  • 91.5 (n)
rat
(Rattus norvegicus)
Mammalia Spred1 34
  • 90.82 (n)
oppossum
(Monodelphis domestica)
Mammalia SPRED1 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPRED1 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPRED1 34 35
  • 83.09 (n)
lizard
(Anolis carolinensis)
Reptilia SPRED1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spred1 34
  • 67.93 (n)
zebrafish
(Danio rerio)
Actinopterygii spred1 34 35
  • 62.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spred 35
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10713 35
  • 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)

Paralogs for SPRED1 Gene

Paralogs for SPRED1 Gene

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

genes like me logo Genes that share paralogs with SPRED1: view

Variants for SPRED1 Gene

Sequence variations from dbSNP and Humsavar for SPRED1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs121434318 Neurofibromatosis 1-like syndrome (NFLS) [MIM:611431], Pathogenic 38,299,471(+) CACTG(A/T)CTTCA reference, missense
VAR_064827 Neurofibromatosis 1-like syndrome (NFLS) [MIM:611431]
rs121434312 Pathogenic 38,322,382(+) GTATC(C/T)GAAGA reference, stop-gained
rs121434313 Pathogenic 38,299,410(+) TGACC(C/T)GAGAT reference, stop-gained
rs121434314 Pathogenic 38,349,482(+) AGCGG(C/G/T)AAATA reference, missense, stop-gained

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)

Relevant External Links 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

(14) MalaCards diseases for SPRED1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
legius syndrome
  • neurofibromatosis type 1-like syndrome
neurofibromatosis, type 1
  • neurofibromatosis, type i
optic disk drusen
  • drusen of optic disc
piebaldism
  • piebald trait
dyschromatosis universalis hereditaria
  • duh
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SPRE1_HUMAN
  • 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. {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.

Relevant External Links for SPRED1

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

No data available for Genatlas for SPRED1 Gene

Publications for SPRED1 Gene

  1. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. (PMID: 19920235) Messiaen L. … Legius E. (JAMA 2009) 3 22 46 64
  2. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. (PMID: 19443465) Spurlock G. … Upadhyaya M. (J. Med. Genet. 2009) 3 4 46 64
  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 Cells 2005) 3 4 22 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. (PMID: 17704776) Brems H. … Legius E. (Nat. Genet. 2007) 3 4 64

Products for SPRED1 Gene

Sources for SPRED1 Gene

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