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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
  • Fz-1 3 4
  • FzE1 3 4
  • HFz1 3 4
  • Frizzled (Drosophila) Homolog 1 2
  • Frizzled Homolog 1 (Drosophila) 2
  • Frizzled Homolog 1 3
  • Frizzled-1 3

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 Norrie Disease. Among its related pathways are Transcription Androgen Receptor nuclear signaling and Endometrial cancer. GO annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is FZD2.

UniProtKB/Swiss-Prot for FZD1 Gene

  • Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. 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. Activated by Wnt3A, Wnt3, Wnt1 and to a lesser extent Wnt2, but not by Wnt4, Wnt5A, Wnt5B, Wnt6, Wnt7A or Wnt7B.

Gene Wiki entry for FZD1 Gene

Additional gene information for FZD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FZD1 Gene

Genomics for FZD1 Gene

Regulatory Elements for FZD1 Gene

Enhancers for FZD1 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
GH07H091136 1.9 VISTA 10.1 -126.8 -126761 3 ZSCAN4 OVOL3 FEZF1 ZNF843 OSR2 PRDM6 POLR2A GLIS1 ZNF580 TCF7L2 FZD1 PTP4A1P3 GC07P091234
GH07H091299 1.3 Ensembl ENCODE 10.7 +36.0 36010 1 HDGF PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 GATA2 ATF7 CAVIN1 FZD1 LOC105375392
GH07H091238 0.9 Ensembl ENCODE 11.7 -24.2 -24233 2 ELF3 SOX13 HLF CEBPB CEBPG YY1 NFIL3 POLR2A CEBPA FOXP2 FZD1 GC07P091234
GH07H091326 0.5 Ensembl 17.8 +62.3 62337 0 NFE2 NR2F2 GABPA YY1 FZD1 NIPA2P1 GC07M091356
GH07H091263 1.1 ENCODE 7.4 +1.3 1272 5 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 CBX5 ZNF143 DEK ENSG00000243107 KRIT1 ENSG00000234459 GTPBP10 AKAP9 FZD1 LOC105375392
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FZD1 on UCSC Golden Path with GeneCards custom track

Promoters for FZD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215007 136 2601 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 CBX5 ZNF143 DEK

Genomic Location for FZD1 Gene

Chromosome:
7
Start:
91,264,364 bp from pter
End:
91,271,326 bp from pter
Size:
6,963 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.

neXtProt entry for FZD1 Gene

Post-translational modifications for FZD1 Gene

  • Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
  • Glycosylation at isoforms=130 and posLast=231231
  • Modification sites at PhosphoSitePlus

Other Protein References for FZD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Suggested Antigen Peptide Sequences for FZD1 Gene

GenScript: Design optimal peptide antigens:

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

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
UniProtKB/Swiss-Prot Function:
Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. 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. Activated by Wnt3A, Wnt3, Wnt1 and to a lesser extent Wnt2, but not by Wnt4, Wnt5A, Wnt5B, Wnt6, Wnt7A or Wnt7B.

Phenotypes From GWAS Catalog for FZD1 Gene

Gene Ontology (GO) - Molecular Function for FZD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity IBA --
GO:0005102 receptor binding IPI 14739301
GO:0005109 frizzled binding IPI 19188438
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FZD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Membrane; Multi-pass membrane protein. 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
nucleus 2
cytoskeleton 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 IDA 21423176
GO:0009986 cell surface IDA 19643732
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
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

SIGNOR curated interactions for FZD1 Gene

Activates:
Inactivates:
Is activated 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 0
genes like me logo Genes that share compounds with FZD1: view

Transcripts for FZD1 Gene

mRNA/cDNA for FZD1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(63) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FZD1 Gene

Frizzled family receptor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FZD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for FZD1 Gene

GeneLoc Exon Structure for
FZD1
ECgene alternative splicing isoforms for
FZD1

Expression for FZD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for FZD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FZD1 Gene:

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(4.4)
  • Eye(4.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with FZD1: view

Primer Products

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 33 34
  • 99.33 (n)
oppossum
(Monodelphis domestica)
Mammalia FZD1 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FZD1 33 34
  • 91.84 (n)
dog
(Canis familiaris)
Mammalia FZD1 33 34
  • 91.71 (n)
mouse
(Mus musculus)
Mammalia Fzd1 33 16 34
  • 88.32 (n)
rat
(Rattus norvegicus)
Mammalia Fzd1 33
  • 87.28 (n)
chicken
(Gallus gallus)
Aves FZD1 33 34
  • 85.3 (n)
lizard
(Anolis carolinensis)
Reptilia FZD1 34
  • 89 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fzd1 34
  • 81 (a)
OneToOne
fzd7a 33
  • 74.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta fz 35 33 34
  • 58.37 (n)
worm
(Caenorhabditis elegans)
Secernentea mom-5 35
  • 39 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2945 33
Species where no ortholog for FZD1 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • 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)

Paralogs for FZD1 Gene

Paralogs for FZD1 Gene

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

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

Variants for FZD1 Gene

Sequence variations from dbSNP and Humsavar for FZD1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000469409 -- 91,265,816(+) TTCGG(A/G)CCCGA reference, synonymous-codon
rs1001681044 -- 91,268,532(+) ATGCC(A/G)GTACT utr-variant-3-prime
rs1002028473 -- 91,266,531(+) CCATC(A/G)TCATC reference, missense
rs1002096196 -- 91,264,951(+) TGCCG(A/G)GGCGC reference, missense
rs1003015745 -- 91,264,478(+) AGGGA(C/T)TGACA utr-variant-5-prime

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)

Relevant External Links for FZD1 Gene

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

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

(2) MalaCards diseases for FZD1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
exudative vitreoretinopathy
  • familial exudative vitreoretinopathy
norrie disease
  • atrophia bulborum hereditaria
- elite association - COSMIC cancer census association via MalaCards
Search FZD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FZD1

Genetic Association Database (GAD)
FZD1
Human Genome Epidemiology (HuGE) Navigator
FZD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FZD1
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 22 60
  2. Functional and association analysis of frizzled 1 (FZD1) promoter haplotypes with femoral neck geometry. (PMID: 20051274) Zhang Y … Zmuda JM (Bone 2010) 3 22 45 60
  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 22 60
  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 45 60
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 45 60

Products for FZD1 Gene

Sources for FZD1 Gene

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