Human Gene FZD1 (ENST00000287934.4_4) from GENCODE V47lift37
  Description: frizzled class receptor 1 (from RefSeq NM_003505.2)
Gencode Transcript: ENST00000287934.4_4
Gencode Gene: ENSG00000157240.4_7
Transcript (Including UTRs)
   Position: hg19 chr7:90,893,748-90,900,641 Size: 6,894 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr7:90,894,196-90,896,139 Size: 1,944 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:90,893,748-90,900,641)mRNA (may differ from genome)Protein (647 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FZD1_HUMAN
DESCRIPTION: RecName: Full=Frizzled-1; Short=Fz-1; Short=hFz1; AltName: Full=FzE1; Flags: Precursor;
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.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Expressed in adult heart, placenta, lung, kidney, pancreas, prostate, and ovary and in fetal lung and kidney.
DOMAIN: Lys-Thr-X-X-X-Trp motif interacts with the PDZ doman of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway (By similarity).
DOMAIN: The FZ domain is involved in binding with Wnt ligands (By similarity).
PTM: Ubiquitinated by ZNRF3, leading to its degradation by the proteasome (By similarity).
SIMILARITY: Belongs to the G-protein coupled receptor Fz/Smo family.
SIMILARITY: Contains 1 FZ (frizzled) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FZD1
Diseases sorted by gene-association score: exudative vitreoretinopathy (8), norrie disease (4)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.21 RPKM in Thyroid
Total median expression: 387.65 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 -231.30448-0.516 Picture PostScript Text
3' UTR -1182.804502-0.263 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
IPR000539 - Frizzled
IPR015526 - Frizzled/SFRP
IPR020067 - Frizzled_dom
IPR026548 - FZD1
IPR017981 - GPCR_2-like

Pfam Domains:
PF00002 - 7 transmembrane receptor (Secretin family)
PF01392 - Fz domain
PF01534 - Frizzled/Smoothened family membrane region
PF05462 - Slime mold cyclic AMP receptor

SCOP Domains:
63501 - Frizzled cysteine-rich domain
81995 - beta-sandwich domain of Sec23/24

ModBase Predicted Comparative 3D Structure on Q9UP38
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004888 transmembrane signaling receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0005102 receptor binding
GO:0005109 frizzled binding
GO:0005515 protein binding
GO:0017147 Wnt-protein binding
GO:0030165 PDZ domain binding
GO:0042813 Wnt-activated receptor activity

Biological Process:
GO:0001934 positive regulation of protein phosphorylation
GO:0003149 membranous septum morphogenesis
GO:0003150 muscular septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0010976 positive regulation of neuron projection development
GO:0016055 Wnt signaling pathway
GO:0030182 neuron differentiation
GO:0030514 negative regulation of BMP signaling pathway
GO:0030855 epithelial cell differentiation
GO:0035425 autocrine signaling
GO:0035567 non-canonical Wnt signaling pathway
GO:0042493 response to drug
GO:0044338 canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation
GO:0044339 canonical Wnt signaling pathway involved in osteoblast differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060022 hard palate development
GO:0060070 canonical Wnt signaling pathway
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0060412 ventricular septum morphogenesis
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090179 planar cell polarity pathway involved in neural tube closure
GO:0099054 presynapse assembly
GO:1903204 negative regulation of oxidative stress-induced neuron death
GO:1904886 beta-catenin destruction complex disassembly
GO:1904953 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation

Cellular Component:
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:1990909 Wnt signalosome


-  Descriptions from all associated GenBank mRNAs
  LF206769 - JP 2014500723-A/14272: Polycomb-Associated Non-Coding RNAs.
LF211973 - JP 2014500723-A/19476: Polycomb-Associated Non-Coding RNAs.
BC017719 - Homo sapiens frizzled homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:4399373), partial cds.
LF357616 - JP 2014500723-A/165119: Polycomb-Associated Non-Coding RNAs.
AB017363 - Homo sapiens mRNA for frizzled-1, complete cds.
AF072872 - Homo sapiens frizzled 1 mRNA, complete cds.
LF357615 - JP 2014500723-A/165118: Polycomb-Associated Non-Coding RNAs.
JD215910 - Sequence 196934 from Patent EP1572962.
JD258367 - Sequence 239391 from Patent EP1572962.
JD411771 - Sequence 392795 from Patent EP1572962.
BC051271 - Homo sapiens frizzled homolog 1 (Drosophila), mRNA (cDNA clone MGC:59857 IMAGE:4874253), complete cds.
AK314996 - Homo sapiens cDNA, FLJ95923, highly similar to Homo sapiens frizzled homolog 1 (Drosophila) (FZD1), mRNA.
AB384701 - Synthetic construct DNA, clone: pF1KB1389, Homo sapiens FZD1 gene for frizzled-1 precursor, complete cds, without stop codon, in Flexi system.
LF357614 - JP 2014500723-A/165117: Polycomb-Associated Non-Coding RNAs.
LF212993 - JP 2014500723-A/20496: Polycomb-Associated Non-Coding RNAs.
LF357613 - JP 2014500723-A/165116: Polycomb-Associated Non-Coding RNAs.
LF357612 - JP 2014500723-A/165115: Polycomb-Associated Non-Coding RNAs.
JD125945 - Sequence 106969 from Patent EP1572962.
JD447405 - Sequence 428429 from Patent EP1572962.
JD072928 - Sequence 53952 from Patent EP1572962.
JD133483 - Sequence 114507 from Patent EP1572962.
JD217736 - Sequence 198760 from Patent EP1572962.
JD271209 - Sequence 252233 from Patent EP1572962.
JD404205 - Sequence 385229 from Patent EP1572962.
JD293598 - Sequence 274622 from Patent EP1572962.
JD416566 - Sequence 397590 from Patent EP1572962.
JD126911 - Sequence 107935 from Patent EP1572962.
JD309184 - Sequence 290208 from Patent EP1572962.
JD073272 - Sequence 54296 from Patent EP1572962.
JD202349 - Sequence 183373 from Patent EP1572962.
LF357611 - JP 2014500723-A/165114: Polycomb-Associated Non-Coding RNAs.
JD538075 - Sequence 519099 from Patent EP1572962.
LF357610 - JP 2014500723-A/165113: Polycomb-Associated Non-Coding RNAs.
JD350664 - Sequence 331688 from Patent EP1572962.
JD082609 - Sequence 63633 from Patent EP1572962.
AL049994 - Homo sapiens mRNA; cDNA DKFZp564G072 (from clone DKFZp564G072).
JD502308 - Sequence 483332 from Patent EP1572962.
JD283918 - Sequence 264942 from Patent EP1572962.
JD162083 - Sequence 143107 from Patent EP1572962.
JD548443 - Sequence 529467 from Patent EP1572962.
LF357609 - JP 2014500723-A/165112: Polycomb-Associated Non-Coding RNAs.
JD161938 - Sequence 142962 from Patent EP1572962.
MA442346 - JP 2018138019-A/14272: Polycomb-Associated Non-Coding RNAs.
MA447550 - JP 2018138019-A/19476: Polycomb-Associated Non-Coding RNAs.
MA593193 - JP 2018138019-A/165119: Polycomb-Associated Non-Coding RNAs.
MA593192 - JP 2018138019-A/165118: Polycomb-Associated Non-Coding RNAs.
MA593191 - JP 2018138019-A/165117: Polycomb-Associated Non-Coding RNAs.
MA448570 - JP 2018138019-A/20496: Polycomb-Associated Non-Coding RNAs.
MA593190 - JP 2018138019-A/165116: Polycomb-Associated Non-Coding RNAs.
MA593189 - JP 2018138019-A/165115: Polycomb-Associated Non-Coding RNAs.
MA593188 - JP 2018138019-A/165114: Polycomb-Associated Non-Coding RNAs.
MA593187 - JP 2018138019-A/165113: Polycomb-Associated Non-Coding RNAs.
MA593186 - JP 2018138019-A/165112: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_wnt-lrp6Pathway - Wnt/LRP6 Signalling
h_wntPathway - WNT Signaling Pathway
h_pitx2Pathway - Multi-step Regulation of Transcription by Pitx2
h_ps1Pathway - Presenilin action in Notch and Wnt signaling
h_hesPathway - Segmentation Clock
h_alkPathway - ALK in cardiac myocytes
h_gsk3Pathway - Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages

Reactome (by CSHL, EBI, and GO)

Protein Q9UP38 (Reactome details) participates in the following event(s):

R-NUL-209104 Frog CKIgamma further phosphorylates Human LRP6 in the receptor complex
R-HSA-1458875 WNT binds to FZD and LRP5/6
R-HSA-3858491 WNTs bind the FZD receptor to initiate PCP pathway
R-HSA-201708 Frizzled receptors bind Wnts
R-HSA-5099886 WNT5A binding to FZD promotes PRICKLE1 degradation
R-HSA-1504188 FZD recruits DVL to the receptor complex
R-HSA-201691 Phosphorylation of LRP5/6 cytoplasmic domain by CSNKI
R-NUL-1458902 frog CK1gamma phosphorylates LRP5/6
R-HSA-201677 Phosphorylation of LRP5/6 cytoplasmic domain by membrane-associated GSK3beta
R-HSA-3858482 DVL is recruited to the receptor
R-HSA-3858480 WNT-dependent phosphorylation of DVL
R-HSA-1504186 DVL recruits GSK3beta:AXIN1 to the receptor complex
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-4086400 PCP/CE pathway
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-4608870 Asymmetric localization of PCP proteins
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-195721 Signaling by WNT
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR

-  Other Names for This Gene
  Alternate Gene Symbols: A4D1E8, ENST00000287934.1, ENST00000287934.2, ENST00000287934.3, FZD1_HUMAN, NM_003505, O94815, Q549T8, Q9UP38, uc317kol.1, uc317kol.2
UCSC ID: ENST00000287934.4_4
RefSeq Accession: NM_003505.2
Protein: Q9UP38 (aka FZD1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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