Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul ... See more...

Aliases for FZD1 Gene

Aliases for FZD1 Gene

  • Frizzled Class Receptor 1 2 3 5
  • Frizzled 1, Seven Transmembrane Spanning Receptor 2 3
  • Frizzled, Drosophila, Homolog Of, 1 2 3
  • Frizzled Family Receptor 1 2 3
  • Wnt Receptor 2 3
  • Frizzled-1 3 4
  • Fz-1 3 4
  • FzE1 3 4
  • HFz1 3 4
  • Frizzled (Drosophila) Homolog 1 2
  • Frizzled Homolog 1 (Drosophila) 2
  • Frizzled Homolog 1 3
  • DKFZp564G072 2
  • FZD1 5

External Ids for FZD1 Gene

Previous GeneCards Identifiers for FZD1 Gene

  • GC07P089429
  • GC07P090491
  • GC07P090505
  • GC07P090538
  • GC07P090731
  • GC07P090893
  • GC07P085501

Summaries for FZD1 Gene

Entrez Gene Summary for FZD1 Gene

  • Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008]

GeneCards Summary for FZD1 Gene

FZD1 (Frizzled Class Receptor 1) is a Protein Coding gene. Diseases associated with FZD1 include Exudative Vitreoretinopathy and Exudative Vitreoretinopathy 1. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Association Between Physico-Chemical Features and Toxicity Associated Pathways. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is FZD7.

UniProtKB/Swiss-Prot Summary for FZD1 Gene

  • Receptor for Wnt proteins (PubMed:10557084). Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B (PubMed:10557084). Contradictory results showing activation by WNT7B have been described for mouse (By similarity). Functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:10557084). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:10557084). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable).

Gene Wiki entry for FZD1 Gene

Additional gene information for FZD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FZD1 Gene

Genomics for FZD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FZD1 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
GH07J091299 Enhancer 1.1 Ensembl ENCODE 20.7 +36.9 36868 4.6 ZNF512 RFX1 LEF1 IKZF1 JUND DDX20 MTA2 PHF21A PKNOX1 ZNF24 FZD1 ENSG00000243144 HSALNG0059481 MTERF1
GH07J091323 Enhancer 0.7 Ensembl ENCODE 29 +61.5 61480 5.4 PKNOX1 HMBOX1 NFE2 GABPA YY1 NR2F2 ZFHX2 SPI1 RXRA MEIS2 FZD1 NIPA2P1 ENSG00000243144 LOC105375392 piR-47675-104 MTERF1
GH07J091136 Enhancer 1.4 VISTA UCNEbase Ensembl CraniofacialAtlas 10.1 -127.4 -127363 4.1 PRDM10 ZSCAN4 TCF7L2 OSR2 ZNF580 OVOL3 POLR2A ZNF843 FEZF1 PRDM6 FZD1 lnc-FZD1-3 PTP4A1P3 piR-47086-290 LOC102723899 CDK14
GH07J091263 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas 7.3 +2.1 2110 7.7 ZNF221 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 RFX1 LEF1 IKZF1 ZNF692 ENSG00000243107 GTPBP10 ENSG00000234459 KRIT1 FZD1 lnc-MTERF1-5 MTERF1
GH07J091238 Enhancer 0.7 Ensembl ENCODE 11.7 -24.4 -24375 2.9 CEBPG GATAD2A CEBPA SOX13 CEBPB YY1 NFIL3 POLR2A MYC HLF FZD1 piR-38351-438 LOC102723899
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FZD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FZD1

Top Transcription factor binding sites by QIAGEN in the FZD1 gene promoter:
  • AML1a
  • C/EBPalpha
  • Egr-2
  • HSF1 (long)
  • HSF1short
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2
  • Pax-4a
  • Pax-5

Genomic Locations for FZD1 Gene

Genomic Locations for FZD1 Gene
chr7:91,264,433-91,271,326
(GRCh38/hg38)
Size:
6,894 bases
Orientation:
Plus strand
chr7:90,893,783-90,898,132
(GRCh37/hg19)
Size:
4,350 bases
Orientation:
Plus strand

Genomic View for FZD1 Gene

Genes around FZD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FZD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FZD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FZD1 Gene

Proteins for FZD1 Gene

  • Protein details for FZD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UP38-FZD1_HUMAN
    Recommended name:
    Frizzled-1
    Protein Accession:
    Q9UP38
    Secondary Accessions:
    • A4D1E8
    • O94815
    • Q549T8

    Protein attributes for FZD1 Gene

    Size:
    647 amino acids
    Molecular mass:
    71158 Da
    Quaternary structure:
    • Interacts with MYOC (PubMed:19188438). Interacts with WNT7B (By similarity).

neXtProt entry for FZD1 Gene

Post-translational modifications for FZD1 Gene

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
  • Glycosylation at Asn130 and Asn231
  • Modification sites at PhosphoSitePlus

Other Protein References for FZD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for FZD1

No data available for DME Specific Peptides for FZD1 Gene

Domains & Families for FZD1 Gene

Gene Families for FZD1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • G-protein coupled receptors
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for FZD1 Gene

InterPro:
Blocks:
  • Frizzled protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for FZD1 Gene

GenScript: Design optimal peptide antigens:
  • FzE1 (FZD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UP38

UniProtKB/Swiss-Prot:

FZD1_HUMAN :
  • Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
  • Belongs to the G-protein coupled receptor Fz/Smo family.
Domain:
  • Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.
  • The FZ domain is involved in binding with Wnt ligands.
Family:
  • Belongs to the G-protein coupled receptor Fz/Smo family.
genes like me logo Genes that share domains with FZD1: view

Function for FZD1 Gene

Molecular function for FZD1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for Wnt proteins (PubMed:10557084). Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B (PubMed:10557084). Contradictory results showing activation by WNT7B have been described for mouse (By similarity). Functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:10557084). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:10557084). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable).
GENATLAS Biochemistry:
Drosophila frizzled polarity gene homolog,G protein coupled receptor superfamily,exhibiting characteristics of a WNT receptor,expressed in heart,brain,placenta,lung,kidney,pancreas,prostate and ovary

Phenotypes From GWAS Catalog for FZD1 Gene

Gene Ontology (GO) - Molecular Function for FZD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G protein-coupled receptor activity IEA --
GO:0005102 signaling receptor binding IPI 14739301
GO:0005109 frizzled binding IPI 19188438
GO:0005515 protein binding IPI 19277043
genes like me logo Genes that share ontologies with FZD1: view
genes like me logo Genes that share phenotypes with FZD1: view

Animal Models for FZD1 Gene

MGI Knock Outs for FZD1:
  • Fzd1 Fzd1<tm1.1Nat>
  • Fzd1 Fzd1<tm1Dgen>
  • Fzd1 Fzd1<tm1.1Boer>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FZD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FZD1 Gene

Localization for FZD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FZD1 Gene

Cell membrane. Multi-pass membrane protein.

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 FZD1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FZD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion HDA 21423176
GO:0009986 cell surface IDA 19643732
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with FZD1: view

Pathways & Interactions for FZD1 Gene

genes like me logo Genes that share pathways with FZD1: view

Pathways by source for FZD1 Gene

1 Tocris pathway for FZD1 Gene
11 Qiagen pathways for FZD1 Gene
  • Colorectal Cancer Metastasis
  • Factors Promoting Cardiogenesis in Vertebrates
  • G12-G13 in Cellular Signaling
  • Glioblastoma Multiforme
  • GSK3 Signaling
2 GeneTex pathways for FZD1 Gene

SIGNOR curated interactions for FZD1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FZD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0003149 membranous septum morphogenesis IEA --
GO:0003150 muscular septum morphogenesis IEA --
GO:0003151 outflow tract morphogenesis IEA --
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with FZD1: view

Drugs & Compounds for FZD1 Gene

(1) Drugs for FZD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with FZD1: view

Transcripts for FZD1 Gene

mRNA/cDNA for FZD1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FZD1

Alternative Splicing Database (ASD) splice patterns (SP) for FZD1 Gene

No ASD Table

Relevant External Links for FZD1 Gene

GeneLoc Exon Structure for
FZD1

Expression for FZD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FZD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FZD1 Gene

This gene is overexpressed in Artery - Tibial (x4.0).

Protein differential expression in normal tissues from HIPED for FZD1 Gene

This gene is overexpressed in Ovary (18.7), Cerebral cortex (16.5), Seminal vesicle (10.5), Placenta (8.3), and Fetal heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FZD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FZD1

SOURCE GeneReport for Unigene cluster for FZD1 Gene:

Hs.94234

mRNA Expression by UniProt/SwissProt for FZD1 Gene:

Q9UP38-FZD1_HUMAN
Tissue specificity: Expressed in adult heart, placenta, lung, kidney, pancreas, prostate, and ovary and in fetal lung and kidney.

Evidence on tissue expression from TISSUES for FZD1 Gene

  • Lung(4.5)
  • Eye(4.4)
  • Nervous system(2.7)
  • Muscle(2.7)
  • Kidney(2.7)
  • Heart(2.6)
  • Intestine(2.6)
  • Liver(2.5)
  • Skin(2.5)
  • Bone marrow(2.4)
  • Thyroid gland(2.2)
  • Bone(2.1)
  • Blood(2.1)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with FZD1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FZD1 Gene

Orthologs for FZD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FZD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FZD1 30 31
  • 99.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FZD1 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia FZD1 30 31
  • 91.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FZD1 30 31
  • 91.71 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fzd1 30 17 31
  • 88.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fzd1 30
  • 87.28 (n)
Chicken
(Gallus gallus)
Aves FZD1 30 31
  • 85.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FZD1 31
  • 89 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii fzd1 31
  • 81 (a)
OneToOne
fzd7a 30
  • 74.84 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta fz 30 31 32
  • 58.37 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mom-5 32
  • 39 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2945 30
Species where no ortholog for FZD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for FZD1 Gene

ENSEMBL:
Gene Tree for FZD1 (if available)
TreeFam:
Gene Tree for FZD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FZD1: view image

Paralogs for FZD1 Gene

Paralogs for FZD1 Gene

(10) SIMAP similar genes for FZD1 Gene using alignment to 1 proteins:

  • FZD1_HUMAN
genes like me logo Genes that share paralogs with FZD1: view

Variants for FZD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FZD1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
780696 Benign: not provided 91,266,629(+) C/T SYNONYMOUS_VARIANT
791291 Benign: not provided 91,265,420(+) A/G SYNONYMOUS_VARIANT
rs3750146 - p.Val343Met

Additional dbSNP identifiers (rs#s) for FZD1 Gene

Variation tolerance for FZD1 Gene

Residual Variation Intolerance Score: 8.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.52; 94.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FZD1 Gene

Human Gene Mutation Database (HGMD)
FZD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FZD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FZD1 Gene

Disorders for FZD1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for FZD1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FZD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FZD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FZD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FZD1 Gene

Publications for FZD1 Gene

  1. Molecular cloning, differential expression, and chromosomal localization of human frizzled-1, frizzled-2, and frizzled-7. (PMID: 9813155) Sagara N … Katoh M (Biochemical and biophysical research communications 1998) 2 3 4 23
  2. Functional and association analysis of frizzled 1 (FZD1) promoter haplotypes with femoral neck geometry. (PMID: 20051274) Zhang Y … Zmuda JM (Bone 2010) 3 23 41
  3. Human frizzled 1 interacts with transforming Wnts to transduce a TCF dependent transcriptional response. (PMID: 10557084) Gazit A … Aaronson SA (Oncogene 1999) 3 4 23
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41
  5. Myocilin is a modulator of Wnt signaling. (PMID: 19188438) Kwon HS … Tomarev SI (Molecular and cellular biology 2009) 3 4

Products for FZD1 Gene

Sources for FZD1 Gene