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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 MAPK-Erk Pathway. 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

Additional gene information for SPRED1 Gene

No data available for CIViC summary , 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
GH15H038084 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -166.7 -166740 2 PKNOX1 TBL1XR1 BMI1 FEZF1 BATF ZNF207 ATF7 ETV6 RUNX3 CREM SPRED1 LINC01852 ENSG00000259380
GH15H038126 1.5 FANTOM5 Ensembl ENCODE 10.4 -122.4 -122426 5 ATF1 TBL1XR1 BATF TCF12 GATA2 EGR1 FOS ATF7 ETV6 RUNX3 SPRED1 LINC01852 ENSG00000259380
GH15H038068 1.4 Ensembl ENCODE dbSUPER 10.7 -182.8 -182787 2 PKNOX1 TBL1XR1 SIN3A BMI1 BATF SCRT2 FOS ATF7 ETV6 RUNX3 SPRED1 LINC01852 LINC02345
GH15H038071 1.2 ENCODE dbSUPER 10.7 -179.2 -179230 3 ARID4B DMAP1 TCF12 ATF7 MXD4 KAT8 SSRP1 ZNF585B MXD3 MYNN SPRED1 FAM98B LINC01852 LINC02345
GH15H038216 1.1 Ensembl ENCODE 11.6 -34.2 -34173 2 HDAC1 ELF3 SOX13 FOXA2 MAX CEBPG ZNF644 RARA ZNF7 TEAD3 SPRED1 ENSG00000259380 LINC01852
- 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
ENSR00000075129 1613 5001 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

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

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

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

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

No data available for 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 ISS,IEA --
GO:0005515 protein binding IPI 15231748
GO:0019901 protein kinase binding IEA,IPI 20736167
GO:0019902 phosphatase binding IDA 19389623
GO:0030291 protein serine/threonine kinase inhibitor activity ISS,IEA 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

CRISPR Products

miRNA for SPRED1 Gene

miRTarBase miRNAs that target SPRED1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPRED1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
peroxisome 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:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005901 caveola IEA --
GO:0016020 membrane IEA --
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 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 ISS,IEA --
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

Drugs & Compounds for SPRED1 Gene

No Compound Related Data Available

Transcripts for SPRED1 Gene

Unigene Clusters for SPRED1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPRED1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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.

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
Organs:
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

Primer Products

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 33 34
  • 99.85 (n)
dog
(Canis familiaris)
Mammalia SPRED1 33 34
  • 95.1 (n)
cow
(Bos Taurus)
Mammalia SPRED1 33 34
  • 93.67 (n)
mouse
(Mus musculus)
Mammalia Spred1 33 16 34
  • 91.5 (n)
rat
(Rattus norvegicus)
Mammalia Spred1 33
  • 90.82 (n)
oppossum
(Monodelphis domestica)
Mammalia SPRED1 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPRED1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPRED1 33 34
  • 83.09 (n)
lizard
(Anolis carolinensis)
Reptilia SPRED1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spred1 33
  • 67.93 (n)
zebrafish
(Danio rerio)
Actinopterygii spred1 33 34
  • 62.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spred 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10713 34
  • 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 Pathogenic, Neurofibromatosis 1-like syndrome (NFLS) [MIM:611431] 38,299,471(+) CACTG(A/T)CTTCA reference, missense
VAR_064827 Neurofibromatosis 1-like syndrome (NFLS) [MIM:611431]
rs1057517941 Pathogenic 38,299,386(+) ATGCA(C/T)GAGTG reference, stop-gained, utr-variant-5-prime
rs1057518683 Pathogenic 38,351,302(+) CAAAA(C/T)GAAGA reference, stop-gained
rs121434312 Pathogenic 38,322,382(+) GTATC(C/T)GAAGA reference, 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

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

Disorder Aliases PubMed IDs
legius syndrome
  • neurofibromatosis type 1-like syndrome
neurofibromatosis, type 1
  • neurofibromatosis
optic disk drusen
  • drusen of optic disc
autosomal dominant café au lait spots
  • familial cafe´-au-lait spots
piebaldism
  • partial albinism
- 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 45 60
  2. 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 45 60
  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 22 60
  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 45 60
  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 60

Products for SPRED1 Gene

Sources for SPRED1 Gene

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