FZD6
entrez
8323
canonical
uniprot
O60353
canonical
ensembl
ENSG00000164930
resolver
ensp
ENSP00000351605
resolver
ensp
ENSP00000429055
resolver
ensp
ENSP00000429528
resolver
genesymbol
FZD6
resolver
hgnc
HGNC:4044
resolver
uniprot
B4DL33
resolver
uniprot
B4DRN0
resolver
uniprot
B4E236
resolver
uniprot
Q6N0A5
resolver
uniprot
Q6P9C3
resolver
uniprot
Q8WXR9
resolver
uniprot_entry
B4DL33_HUMAN
resolver
uniprot_entry
B4E236_HUMAN
resolver
uniprot_entry
FZD6_HUMAN
resolver
uniprot_sec
B4DRN0
resolver
uniprot_sec
Q6N0A5
resolver
uniprot_sec
Q6P9C3
resolver
uniprot_sec
Q8WXR9
resolver
amino_acid_sequence
MEMFTFLLTCIFLPLLRGHSLFTCEPITVPRCMKMAYNMTFFPNLMGHYDQSIAAVEMEHFLPLANLECSPNIETFLCKAFVPTCIEQIHVVPPCRKLCEKVYSDCKKLIDTFGIRWPEELECDRLQYCDETVPVTFDPHTEFLGPQKKTEQVQRDIGFWCPRHLKTSGGQGYKFLGIDQCAPPCPNMYFKSDELEFAKSFIGTVSIFCLCATLFTFLTFLIDVRRFRYPERPIIYYSVCYSIVSLMYFIGFLLGDSTACNKADEKLELGDTVVLGSQNKACTVLFMLLYFFTMAGTVWWVILTITWFLAAGRKWSCEAIEQKAVWFHAVAWGTPGFLTVMLLAMNKVEGDNISGVCFVGLYDLDASRYFVLLPLCLCVFVGLSLLLAGIISLNHVRQVIQHDGRNQEKLKKFMIRIGVFSGLYLVPLVTLLGCYVYEQVNRITWEITWVSDHCRQYHIPCPYQAKAKARPELALFMIKYLMTLIVGISAVFWVGSKKTCTEWAGFFKRNRKRDPISESRRVLQESCEFFLKHNSKVKHKKKHYKPSSHKLKVISKSMGTSTGATANHGTSAVAITSHDYLGQETLTEIQTSPETSMREVKADGASTPRLREQDCGEPASPAASISRLSGEQVDGKGQAGSVSESARSEGRISPKSDITDTGLAQSNNLQVPSSSEPSSLKGSTSLLVHPVSGVRKEQGGGCHSDT
uniprot
proteins
disease_involvement
DISEASE: Nail disorder, non-syndromic congenital, 1 (NDNC1) [MIM:161050]: An autosomal recessive nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development. {ECO:0000269|PubMed:21665003}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Rare non-synonymous variants in FZD6 may contribute to neural tube defects, congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy.
uniprot
proteins
function
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. Together with FZD3, is involved in the neural tube closure and plays a role in the regulation of the establishment of planar cell polarity (PCP), particularly in the orientation of asymmetric bundles of stereocilia on the apical faces of a subset of auditory and vestibular sensory cells located in the inner ear (By similarity). {ECO:0000250|UniProtKB:Q61089}.
uniprot
proteins
mass_dalton
79292
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by ZNRF3, leading to its degradation by the proteasome. {ECO:0000250}.
uniprot
proteins
protein_family
G protein-coupled receptor Fz/Smo family
uniprot
proteins
pubmed
11707601
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21665003
uniprot
proteins
pubmed
22045688
uniprot
proteins
pubmed
22575959
uniprot
proteins
pubmed
9480858
uniprot
proteins
sequence_length
706
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q61089}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:Q61089}; Multi-pass membrane protein {ECO:0000255}. Cell surface {ECO:0000250|UniProtKB:Q61089}. Apical cell membrane; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q61089}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q61089}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with FZD3 at the apical face of cells (By similarity). Localizes to the endoplasmic reticulum membrane in the presence of LMBR1L (By similarity). {ECO:0000250|UniProtKB:Q61089}.
uniprot
proteins
transmembrane_region
TRANSMEM 202..222; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 234..254; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 285..305; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 325..345; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 371..391; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 417..437; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 474..494; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins