Human Gene SFRP1 (ENST00000220772.8) from GENCODE V44
  Description: Homo sapiens secreted frizzled related protein 1 (SFRP1), mRNA. (from RefSeq NM_003012)
RefSeq Summary (NM_003012): 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].
Gencode Transcript: ENST00000220772.8
Gencode Gene: ENSG00000104332.12
Transcript (Including UTRs)
   Position: hg38 chr8:41,261,962-41,309,473 Size: 47,512 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr8:41,265,167-41,309,159 Size: 43,993 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:41,261,962-41,309,473)mRNA (may differ from genome)Protein (314 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SFRP1_HUMAN
DESCRIPTION: RecName: Full=Secreted frizzled-related protein 1; Short=FRP-1; Short=sFRP-1; AltName: Full=Secreted apoptosis-related protein 2; Short=SARP-2; Flags: Precursor;
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.
SUBUNIT: Interacts with WNT1, WNT2 and FRZD6. Interacts with WNT4 and WNT8 (By similarity).
SUBCELLULAR LOCATION: Secreted. Note=Cell membrane or extracellular matrix-associated. Released by heparin-binding.
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.
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.
DOMAIN: The FZ domain is involved in binding with Wnt ligands (By similarity).
MASS SPECTROMETRY: Mass=7266.4; Method=MALDI; Range=169-210; Note=Isoform N-glycosylated on Asn-173; Source=PubMed:11741940;
MISCELLANEOUS: May have therapeutic use in cardiac surgery.
SIMILARITY: Belongs to the secreted frizzled-related protein (sFRP) family.
SIMILARITY: Contains 1 FZ (frizzled) domain.
SIMILARITY: Contains 1 NTR domain.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: SFRP1
Diseases sorted by gene-association score: glucocorticoid-induced osteoporosis (7), adult medulloblastoma (6), esophageal basaloid squamous cell carcinoma (4), osteoporosis (2), renal cell carcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 99.81 RPKM in Cervix - Ectocervix
Total median expression: 812.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -175.80314-0.560 Picture PostScript Text
3' UTR -945.103205-0.295 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015526 - Frizzled/SFRP
IPR020067 - Frizzled_dom
IPR001134 - Netrin_domain
IPR018933 - Netrin_module_non-TIMP
IPR026559 - SFRP1
IPR008993 - TIMP-like_OB-fold

Pfam Domains:
PF01392 - Fz domain
PF01759 - UNC-6/NTR/C345C module

ModBase Predicted Comparative 3D Structure on Q8N474
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004197 cysteine-type endopeptidase activity
GO:0004930 G-protein coupled receptor activity
GO:0005109 frizzled binding
GO:0005515 protein binding
GO:0008144 drug binding
GO:0008201 heparin binding
GO:0017147 Wnt-protein binding
GO:0042802 identical protein binding
GO:0042813 Wnt-activated receptor activity

Biological Process:
GO:0001649 osteoblast differentiation
GO:0001657 ureteric bud development
GO:0001756 somitogenesis
GO:0001843 neural tube closure
GO:0001954 positive regulation of cell-matrix adhesion
GO:0002244 hematopoietic progenitor cell differentiation
GO:0006508 proteolysis
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007275 multicellular organism development
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0008584 male gonad development
GO:0008585 female gonad development
GO:0009267 cellular response to starvation
GO:0009950 dorsal/ventral axis specification
GO:0009952 anterior/posterior pattern specification
GO:0010564 regulation of cell cycle process
GO:0010629 negative regulation of gene expression
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0010975 regulation of neuron projection development
GO:0014034 neural crest cell fate commitment
GO:0014070 response to organic cyclic compound
GO:0016055 Wnt signaling pathway
GO:0021915 neural tube development
GO:0030097 hemopoiesis
GO:0030154 cell differentiation
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030178 negative regulation of Wnt signaling pathway
GO:0030279 negative regulation of ossification
GO:0030307 positive regulation of cell growth
GO:0030308 negative regulation of cell growth
GO:0030336 negative regulation of cell migration
GO:0030514 negative regulation of BMP signaling pathway
GO:0033689 negative regulation of osteoblast proliferation
GO:0035019 somatic stem cell population maintenance
GO:0042493 response to drug
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043508 negative regulation of JUN kinase activity
GO:0043547 positive regulation of GTPase activity
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0044345 stromal-epithelial cell signaling involved in prostate gland development
GO:0045578 negative regulation of B cell differentiation
GO:0045600 positive regulation of fat cell differentiation
GO:0045668 negative regulation of osteoblast differentiation
GO:0045671 negative regulation of osteoclast differentiation
GO:0045765 regulation of angiogenesis
GO:0045880 positive regulation of smoothened signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046546 development of primary male sexual characteristics
GO:0046676 negative regulation of insulin secretion
GO:0046851 negative regulation of bone remodeling
GO:0048147 negative regulation of fibroblast proliferation
GO:0048546 digestive tract morphogenesis
GO:0050679 positive regulation of epithelial cell proliferation
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation
GO:0051496 positive regulation of stress fiber assembly
GO:0051894 positive regulation of focal adhesion assembly
GO:0060070 canonical Wnt signaling pathway
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0060218 hematopoietic stem cell differentiation
GO:0060346 bone trabecula formation
GO:0060527 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
GO:0060687 regulation of branching involved in prostate gland morphogenesis
GO:0060766 negative regulation of androgen receptor signaling pathway
GO:0071305 cellular response to vitamin D
GO:0071347 cellular response to interleukin-1
GO:0071356 cellular response to tumor necrosis factor
GO:0071363 cellular response to growth factor stimulus
GO:0071380 cellular response to prostaglandin E stimulus
GO:0071391 cellular response to estrogen stimulus
GO:0071392 cellular response to estradiol stimulus
GO:0071456 cellular response to hypoxia
GO:0071481 cellular response to X-ray
GO:0071504 cellular response to heparin
GO:0071542 dopaminergic neuron differentiation
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0071773 cellular response to BMP stimulus
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090175 regulation of establishment of planar polarity
GO:0090179 planar cell polarity pathway involved in neural tube closure
GO:0090244 Wnt signaling pathway involved in somitogenesis
GO:0090246 convergent extension involved in somitogenesis
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1904956 regulation of midbrain dopaminergic neuron differentiation
GO:2000041 negative regulation of planar cell polarity pathway involved in axis elongation
GO:2000052 positive regulation of non-canonical Wnt signaling pathway
GO:2000054 negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification
GO:2000080 negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation
GO:2000270 negative regulation of fibroblast apoptotic process
GO:2000271 positive regulation of fibroblast apoptotic process
GO:2001238 positive regulation of extrinsic apoptotic signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0031012 extracellular matrix
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF056087 - Homo sapiens secreted frizzled related protein mRNA, complete cds.
BC036503 - Homo sapiens secreted frizzled-related protein 1, mRNA (cDNA clone MGC:43294 IMAGE:5265277), complete cds.
AK127331 - Homo sapiens cDNA FLJ45402 fis, clone BRHIP3029409, moderately similar to Homo sapiens secreted frizzled-related protein 1 (SFRP1).
AF017987 - Homo sapiens secreted apoptosis related protein 2 (SARP2) mRNA, complete cds.
AF001900 - Homo sapiens secreted frizzled-related protein mRNA, complete cds.
AK293090 - Homo sapiens cDNA FLJ77519 complete cds, highly similar to Homo sapiens secreted frizzled related protein mRNA.
KJ892126 - Synthetic construct Homo sapiens clone ccsbBroadEn_01520 SFRP1 gene, encodes complete protein.
AL049995 - Homo sapiens mRNA; cDNA DKFZp564J212 (from clone DKFZp564J212).
JD447991 - Sequence 429015 from Patent EP1572962.
JD241766 - Sequence 222790 from Patent EP1572962.
JD325691 - Sequence 306715 from Patent EP1572962.
JD314810 - Sequence 295834 from Patent EP1572962.
JD304643 - Sequence 285667 from Patent EP1572962.
JD521750 - Sequence 502774 from Patent EP1572962.
JD385622 - Sequence 366646 from Patent EP1572962.
JD228250 - Sequence 209274 from Patent EP1572962.
JD493696 - Sequence 474720 from Patent EP1572962.
JD174825 - Sequence 155849 from Patent EP1572962.
JD316659 - Sequence 297683 from Patent EP1572962.
JD510617 - Sequence 491641 from Patent EP1572962.
JD168472 - Sequence 149496 from Patent EP1572962.
JD497298 - Sequence 478322 from Patent EP1572962.
JD552688 - Sequence 533712 from Patent EP1572962.
JD122316 - Sequence 103340 from Patent EP1572962.
JD429076 - Sequence 410100 from Patent EP1572962.
JD302946 - Sequence 283970 from Patent EP1572962.
JD501697 - Sequence 482721 from Patent EP1572962.
JD433498 - Sequence 414522 from Patent EP1572962.
JD300481 - Sequence 281505 from Patent EP1572962.
JD056526 - Sequence 37550 from Patent EP1572962.
JD467470 - Sequence 448494 from Patent EP1572962.
JD565005 - Sequence 546029 from Patent EP1572962.
JD188434 - Sequence 169458 from Patent EP1572962.
JD177059 - Sequence 158083 from Patent EP1572962.
JD273454 - Sequence 254478 from Patent EP1572962.
JD424425 - Sequence 405449 from Patent EP1572962.
JD143227 - Sequence 124251 from Patent EP1572962.
JD488137 - Sequence 469161 from Patent EP1572962.
JD245515 - Sequence 226539 from Patent EP1572962.
JD551511 - Sequence 532535 from Patent EP1572962.
JD184544 - Sequence 165568 from Patent EP1572962.
JD445908 - Sequence 426932 from Patent EP1572962.
JD541003 - Sequence 522027 from Patent EP1572962.
JD496727 - Sequence 477751 from Patent EP1572962.
JD167238 - Sequence 148262 from Patent EP1572962.
JD297142 - Sequence 278166 from Patent EP1572962.
JD358243 - Sequence 339267 from Patent EP1572962.
JD095830 - Sequence 76854 from Patent EP1572962.
JD359513 - Sequence 340537 from Patent EP1572962.
JD462171 - Sequence 443195 from Patent EP1572962.
JD114162 - Sequence 95186 from Patent EP1572962.
JD068294 - Sequence 49318 from Patent EP1572962.
JD496616 - Sequence 477640 from Patent EP1572962.
JD086224 - Sequence 67248 from Patent EP1572962.
JD332140 - Sequence 313164 from Patent EP1572962.
JD284623 - Sequence 265647 from Patent EP1572962.
JD114080 - Sequence 95104 from Patent EP1572962.
JD456337 - Sequence 437361 from Patent EP1572962.
JD116558 - Sequence 97582 from Patent EP1572962.
BC004466 - Homo sapiens secreted frizzled-related protein 1, mRNA (cDNA clone IMAGE:3501872), partial cds.
JD519744 - Sequence 500768 from Patent EP1572962.
JD106364 - Sequence 87388 from Patent EP1572962.
JD124629 - Sequence 105653 from Patent EP1572962.
JD255300 - Sequence 236324 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q8N474 (Reactome details) participates in the following event(s):

R-NUL-3772439 sFrp binds Wnt3a and inhibits WNT-FZD binding
R-HSA-3772441 sFRP binds WNT3A and inhibits WNT:FZD binding
R-HSA-3772470 Negative regulation of TCF-dependent signaling by WNT ligand antagonists
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000220772.1, ENST00000220772.2, ENST00000220772.3, ENST00000220772.4, ENST00000220772.5, ENST00000220772.6, ENST00000220772.7, FRP, FRP1, NM_003012, O00546, O14779, Q8N474, SARP2, SFRP1_HUMAN, uc003xnt.1, uc003xnt.2, uc003xnt.3, uc003xnt.4, uc003xnt.5
UCSC ID: ENST00000220772.8
RefSeq Accession: NM_003012
Protein: Q8N474 (aka SFRP1_HUMAN)
CCDS: CCDS34886.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.