This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining... See more...

Aliases for SFRP1 Gene

Aliases for SFRP1 Gene

  • Secreted Frizzled Related Protein 1 2 3 5
  • FRP-1 2 3 4
  • SARP2 2 3 4
  • FRP 2 3 4
  • Secreted Apoptosis-Related Protein 2 3 4
  • Secreted Frizzled-Related Protein 1 3 4
  • SARP-2 3 4
  • SFRP-1 3 4
  • FRP1 3 4
  • Frizzled-Related Protein 3
  • SFRP1 5
  • FrzA 3

External Ids for SFRP1 Gene

Previous GeneCards Identifiers for SFRP1 Gene

  • GC08M040568
  • GC08M041148
  • GC08M040860
  • GC08M041136
  • GC08M041238
  • GC08M039647
  • GC08M041119

Summaries for SFRP1 Gene

Entrez Gene Summary for SFRP1 Gene

  • This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]

GeneCards Summary for SFRP1 Gene

SFRP1 (Secreted Frizzled Related Protein 1) is a Protein Coding gene. Diseases associated with SFRP1 include Glucocorticoid-Induced Osteoporosis and Colorectal Adenoma. Among its related pathways are Signaling by GPCR and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and heparin binding. An important paralog of this gene is SFRP5.

UniProtKB/Swiss-Prot Summary for SFRP1 Gene

  • Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metanephroi (By similarity). Inhibits WNT1/WNT4-mediated TCF-dependent transcription.

Gene Wiki entry for SFRP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFRP1 Gene

Genomics for SFRP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SFRP1 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
GH08J041305 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.6 1572 4.6 POLR2A ZNF341 SIN3A SP2 NFE2 CTCF MAFG TAF1 ZNF362 RAD21 SFRP1 HSALNG0064814-002 RF00026-1030 RNU6-895P HSALNG0064814-001 ZMAT4
GH08J041150 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 +156.7 156715 3.7 JUND CEBPA CEBPB THAP11 FOXA2 CTBP1 SMAD4 SAP130 MIER3 RARA SFRP1 ENSG00000272479 HSALNG0064804-002 LOC105379771 lnc-SFRP1-1 ZMAT4
GH08J041157 Enhancer 0.8 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +151.1 151072 2.4 EP300 SFRP1 ENSG00000272479 HSALNG0064804-002 LOC105379771 lnc-SFRP1-1 ZMAT4
GH08J041160 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +147.9 147942 2 JUND POLR2A SMC3 SFRP1 HSALNG0064804-002 LOC105379771 lnc-SFRP1-1 ZMAT4
GH08J041345 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 11.4 -36.7 -36668 0.9 PRDM10 RAD21 CTCF NR2F1 SFRP1 piR-61101-640 HSALNG0064817 GOLGA7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFRP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFRP1

Top Transcription factor binding sites by QIAGEN in the SFRP1 gene promoter:
  • AML1a
  • C/EBPbeta
  • CREB
  • FOXD1
  • LCR-F1
  • MyoD
  • Pax-5
  • Pbx1a
  • RORalpha2
  • STAT1alpha

Genomic Locations for SFRP1 Gene

Latest Assembly
chr8:41,261,962-41,309,473
(GRCh38/hg38)
Size:
47,512 bases
Orientation:
Minus strand

Previous Assembly
chr8:41,119,481-41,166,992
(GRCh37/hg19 by Entrez Gene)
Size:
47,512 bases
Orientation:
Minus strand

chr8:41,119,481-41,167,016
(GRCh37/hg19 by Ensembl)
Size:
47,536 bases
Orientation:
Minus strand

Genomic View for SFRP1 Gene

Genes around SFRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFRP1 Gene

Proteins for SFRP1 Gene

  • Protein details for SFRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N474-SFRP1_HUMAN
    Recommended name:
    Secreted frizzled-related protein 1
    Protein Accession:
    Q8N474
    Secondary Accessions:
    • O00546
    • O14779

    Protein attributes for SFRP1 Gene

    Size:
    314 amino acids
    Molecular mass:
    35386 Da
    Quaternary structure:
    • Interacts with WNT1, WNT2 and FRZD6. Interacts with WNT4, WNT8 and MYOC (By similarity).
    Miscellaneous:
    • May have therapeutic use in cardiac surgery.

neXtProt entry for SFRP1 Gene

Post-translational modifications for SFRP1 Gene

  • Glycosylation at Asn173
  • Modification sites at PhosphoSitePlus

Other Protein References for SFRP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for SFRP1

No data available for DME Specific Peptides for SFRP1 Gene

Domains & Families for SFRP1 Gene

Gene Families for SFRP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for SFRP1 Gene

GenScript: Design optimal peptide antigens:
  • SFRP1 protein (Q05DS5_HUMAN)
  • cDNA FLJ45402 fis, clone BRHIP3029409, moderately similar to Homo sapiens secreted frizzled-related protein 1 (SFRP1) (Q6ZSL4_HUMAN)
  • Secreted apoptosis-related protein 2 (SFRP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N474

UniProtKB/Swiss-Prot:

SFRP1_HUMAN :
  • The FZ domain is involved in binding with Wnt ligands.
  • Belongs to the secreted frizzled-related protein (sFRP) family.
Domain:
  • The FZ domain is involved in binding with Wnt ligands.
Family:
  • Belongs to the secreted frizzled-related protein (sFRP) family.
genes like me logo Genes that share domains with SFRP1: view

Function for SFRP1 Gene

Molecular function for SFRP1 Gene

UniProtKB/Swiss-Prot Function:
Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metanephroi (By similarity). Inhibits WNT1/WNT4-mediated TCF-dependent transcription.
UniProtKB/Swiss-Prot Induction:
Down-regulated in colorectal and breast tumors. Up-regulated in uterine leiomyomas under high estrogenic conditions. Expression, in leiomyomal cells, also increased both under hypoxic and serum deprivation conditions.
GENATLAS Biochemistry:
Drosophila frizzled polarity homolog,secreted related protein 1,mouse sfrp 1 homolog,likely involved in WNT binding and signal transduction,deleted in breast carcinomas (see TSG8D)

LifeMap Function Summary for SFRP1 Gene

SFRP1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for SFRP1 Gene

Gene Ontology (GO) - Molecular Function for SFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IMP 14581477
GO:0005109 frizzled binding IPI 1927703
GO:0005515 protein binding IEA,IPI 10347172
GO:0008201 heparin binding IDA 9192640
GO:0017147 Wnt-protein binding IDA,NAS 24431302
genes like me logo Genes that share ontologies with SFRP1: view
genes like me logo Genes that share phenotypes with SFRP1: view

Animal Models for SFRP1 Gene

MGI Knock Outs for SFRP1:

Animal Models for research

  • Taconic Biosciences Mouse Models for SFRP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFRP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SFRP1 Gene

Localization for SFRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFRP1 Gene

Secreted. Note=Cell membrane or extracellular matrix-associated. Released by heparin-binding.

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 SFRP1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA,IDA 9192640
GO:0005829 cytosol IDA 14581477
GO:0005886 plasma membrane ISS --
GO:0009986 cell surface IDA 9192640
genes like me logo Genes that share ontologies with SFRP1: view

Pathways & Interactions for SFRP1 Gene

genes like me logo Genes that share pathways with SFRP1: view

SIGNOR curated interactions for SFRP1 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SFRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEP 16149051
GO:0001657 ureteric bud development IEA --
GO:0001756 somitogenesis IEA --
GO:0001843 neural tube closure IEA --
GO:0001954 positive regulation of cell-matrix adhesion ISS --
genes like me logo Genes that share ontologies with SFRP1: view

Drugs & Compounds for SFRP1 Gene

(4) Drugs for SFRP1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
WAY 316606 Pharma sFRP-1 inhibitor 0

(3) Additional Compounds for SFRP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for SFRP1 Gene

Compound Action Cas Number
WAY 316606 sFRP-1 inhibitor 915759-45-4
genes like me logo Genes that share compounds with SFRP1: view

Drug products for research

Transcripts for SFRP1 Gene

mRNA/cDNA for SFRP1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SFRP1

Alternative Splicing Database (ASD) splice patterns (SP) for SFRP1 Gene

No ASD Table

Relevant External Links for SFRP1 Gene

GeneLoc Exon Structure for
SFRP1

Expression for SFRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFRP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SFRP1 Gene

This gene is overexpressed in Cervix - Ectocervix (x4.7) and Vagina (x4.2).

Protein differential expression in normal tissues from HIPED for SFRP1 Gene

This gene is overexpressed in Urine (24.3) and Testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SFRP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFRP1

SOURCE GeneReport for Unigene cluster for SFRP1 Gene:

Hs.213424

mRNA Expression by UniProt/SwissProt for SFRP1 Gene:

Q8N474-SFRP1_HUMAN
Tissue specificity: Widely expressed. Absent from lung, liver and peripheral blood leukocytes. Highest levels in heart and fetal kidney. Also expressed in testis, ovary, fetal brain and lung, leiomyomal cells, myometrial cells and vascular smooth muscle cells. Expressed in foreskin fibroblasts and in keratinocytes.

Evidence on tissue expression from TISSUES for SFRP1 Gene

  • Nervous system(4.8)
  • Heart(4.6)
  • Lung(3)
  • Muscle(3)
  • Kidney(2.9)
  • Skin(2.7)
  • Intestine(2.6)
  • Thyroid gland(2.4)
  • Liver(2.4)
  • Eye(2.3)
  • Bone(2.2)
  • Gall bladder(2.1)
  • Blood(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with SFRP1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SFRP1 Gene

Orthologs for SFRP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SFRP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SFRP1 29 30
  • 98.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SFRP1 29 30
  • 93.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SFRP1 29 30
  • 93.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sfrp1 29 16 30
  • 92.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sfrp1 29
  • 91.59 (n)
Oppossum
(Monodelphis domestica)
Mammalia SFRP1 30
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SFRP1 29 30
  • 84.82 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sfrp1 29
  • 71.48 (n)
Str.11327 29
African clawed frog
(Xenopus laevis)
Amphibia sfrp1-A-prov 29
Zebrafish
(Danio rerio)
Actinopterygii sfrp1a 29 30
  • 68.84 (n)
OneToMany
sfrp1b 30
  • 59 (a)
OneToMany
-- 29
Worm
(Caenorhabditis elegans)
Secernentea Y73B6BL.21 31
  • 36 (a)
sfrp-1 30
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8698 30
  • 36 (a)
OneToMany
Species where no ortholog for SFRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for SFRP1 Gene

ENSEMBL:
Gene Tree for SFRP1 (if available)
TreeFam:
Gene Tree for SFRP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFRP1: view image
Alliance of Genome Resources:
Additional Orthologs for SFRP1

Paralogs for SFRP1 Gene

Paralogs for SFRP1 Gene

(4) SIMAP similar genes for SFRP1 Gene using alignment to 3 proteins:

  • SFRP1_HUMAN
  • Q05DS5_HUMAN
  • Q6ZSL4_HUMAN
genes like me logo Genes that share paralogs with SFRP1: view

Variants for SFRP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFRP1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1064796559 Uncertain Significance: not provided 41,265,299(-) C/T
NM_003012.5(SFRP1):c.813G>A (p.Met271Ile)
MISSENSE
rs184528079 Benign: not provided 41,309,004(-) G/A
NM_003012.5(SFRP1):c.156C>T (p.Tyr52=)
SYNONYMOUS
rs76486417 Benign: not provided 41,308,916(-) G/A
NM_003012.5(SFRP1):c.244C>T (p.Leu82=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SFRP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SFRP1 Gene

Variant ID Type Subtype PubMed ID
esv1509288 CNV insertion 17803354
esv33397 CNV loss 17666407
esv3576565 CNV gain 25503493
esv3616987 CNV loss 21293372
nsv831298 CNV gain+loss 17160897

Variation tolerance for SFRP1 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.92; 91.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFRP1 Gene

Human Gene Mutation Database (HGMD)
SFRP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFRP1
Leiden Open Variation Database (LOVD)
SFRP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFRP1 Gene

Disorders for SFRP1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SFRP1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
glucocorticoid-induced osteoporosis
  • steroid-induced osteoporosis
colorectal adenoma
  • colorectal adenomas
osteoporosis
  • bone mineral density quantitative trait locus; bmnd
bladder cancer
  • bladder cancer, somatic
keratoconus
  • conical cornea
- elite association - COSMIC cancer census association via MalaCards
Search SFRP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SFRP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SFRP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SFRP1 Gene

Publications for SFRP1 Gene

  1. Purification and molecular cloning of a secreted, Frizzled-related antagonist of Wnt action. (PMID: 9192640) Finch PW … Rubin JS (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22
  2. Association of single nucleotide polymorphisms in secreted frizzled-related protein 1 gene with bone mineral density in Japanese women. (PMID: 19702942) Ohnaka K … Takayanagi R (Geriatrics & gerontology international 2009) 3 22 40
  3. Disulfide bond assignments of secreted Frizzled-related protein-1 provide insights about Frizzled homology and netrin modules. (PMID: 11741940) Chong JM … Speicher DW (The Journal of biological chemistry 2002) 3 4 22
  4. Interaction of frizzled related protein (FRP) with Wnt ligands and the frizzled receptor suggests alternative mechanisms for FRP inhibition of Wnt signaling. (PMID: 10347172) Bafico A … Aaronson SA (The Journal of biological chemistry 1999) 3 4 22
  5. SARPs: a family of secreted apoptosis-related proteins. (PMID: 9391078) Melkonyan HS … Umansky SR (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4

Products for SFRP1 Gene

Sources for SFRP1 Gene