Homo sapiens Protein: FRZB
Summary
InnateDB Protein IDBP-76880.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FRZB
Protein Name frizzled-related protein
Synonyms FRE; FRITZ; FRP-3; FRZB-1; FRZB-PEN; FRZB1; FZRB; hFIZ; OS1; SFRP3; SRFP3;
Species Homo sapiens
Ensembl Protein ENSP00000295113
InnateDB Gene IDBG-76878 (FRZB)
Protein Structure
UniProt Annotation
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. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development.
Subcellular Localization Secreted {ECO:0000305}.
Disease Associations Osteoarthritis 1 (OS1) [MIM:165720]: A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity Expressed primarily in the cartilaginous cores of the long bone during embryonic and fetal development and in the appendicular skeleton (6-13 weeks). At 13 weeks of gestation, transcripts were present in early chondroblasts of the tarsal bones of the foot, the carpal bones of the hands and the epiphysis of long bones. Highly expressed in placenta and heart, followed by brain, skeletal muscle, kidney and pancreas. Weakly expressed in lung and liver.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0017147 Wnt-protein binding
GO:0030165 PDZ domain binding
GO:0042813 Wnt-activated receptor activity
Biological Process
GO:0001501 skeletal system development
GO:0001944 vasculature development
GO:0007420 brain development
GO:0008285 negative regulation of cell proliferation
GO:0008406 gonad development
GO:0010721 negative regulation of cell development
GO:0014033 neural crest cell differentiation
GO:0016055 Wnt signaling pathway
GO:0030178 negative regulation of Wnt signaling pathway
GO:0030308 negative regulation of cell growth
GO:0042472 inner ear morphogenesis
GO:0043065 positive regulation of apoptotic process
GO:0045600 positive regulation of fat cell differentiation
GO:0060029 convergent extension involved in organogenesis
GO:0060056 mammary gland involution
GO:0060429 epithelium development
GO:0061037 negative regulation of cartilage development
GO:0061053 somite development
GO:0070367 negative regulation of hepatocyte differentiation
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090103 cochlea morphogenesis
Cellular Component
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR001134 Netrin domain
IPR008993 Tissue inhibitor of metalloproteinases-like, OB-fold
IPR018933 Netrin module, non-TIMP type
IPR020067 Frizzled domain
PFAM PF01759
PF01392
PRINTS
PIRSF
SMART SM00643
SM00063
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q92765
PhosphoSite PhosphoSite-
TrEMBL Q53QT6
UniProt Splice Variant
Entrez Gene 2487
UniGene Hs.714042
RefSeq NP_001454
HUGO HGNC:3959
OMIM 605083
CCDS CCDS2286
HPRD 07282
IMGT
EMBL AC105396 AC108514 BC027855 BT019883 CH471058 HM015594 U24163 U68057 U91903
GenPept AAB51298 AAC50736 AAC51217 AAH27855 AAV38686 AAX93117 AAY24241 ADL14515 EAX10958