Human Gene FZD9 (ENST00000344575.5) from GENCODE V44
Description: Homo sapiens frizzled class receptor 9 (FZD9), mRNA. (from RefSeq NM_003508) RefSeq Summary (NM_003508): Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000344575.5 Gencode Gene: ENSG00000188763.5 Transcript (Including UTRs) Position: hg38 chr7:73,433,778-73,436,120 Size: 2,343 Total Exon Count: 1 Strand: + Coding Region Position: hg38 chr7:73,434,008-73,435,783 Size: 1,776 Coding Exon Count: 1
ID:FZD9_HUMAN DESCRIPTION: RecName: Full=Frizzled-9; Short=Fz-9; Short=hFz9; AltName: Full=FzE6; AltName: CD_antigen=CD349; 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. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity). TISSUE SPECIFICITY: Expressed predominantly in adult and fetal brain, testis, eye, skeletal muscle and kidney. Moderately expressed in pancreas, thyroid, adrenal cortex, small intestine and stomach. Detected in fetal liver 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. CAUTION: Has been first described as FZD3 in litterature.
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.
Pfam Domains: PF01534 - Frizzled/Smoothened family membrane region PF01392 - Fz domain
ModBase Predicted Comparative 3D Structure on O00144
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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.