Entity Details

Primary name FZD6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60353
EntryNameFZD6_HUMAN
FullNameFrizzled-6
TaxID9606
Evidenceevidence at protein level
Length706
SequenceStatuscomplete
DateCreated2001-12-05
DateModified2021-06-02

Ontological Relatives

GenesFZD6

GO terms

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GOName
GO:0001843 neural tube closure
GO:0001942 hair follicle development
GO:0004930 G protein-coupled receptor activity
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0016327 apicolateral plasma membrane
GO:0017147 Wnt-protein binding
GO:0030168 platelet activation
GO:0030659 cytoplasmic vesicle membrane
GO:0031625 ubiquitin protein ligase binding
GO:0033278 cell proliferation in midbrain
GO:0035567 non-canonical Wnt signaling pathway
GO:0035880 embryonic nail plate morphogenesis
GO:0042472 inner ear morphogenesis
GO:0042813 Wnt-activated receptor activity
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:0048105 establishment of body hair planar orientation
GO:0060070 canonical Wnt signaling pathway
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:1904693 midbrain morphogenesis

Subcellular Location

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Subcellular Location
Apical cell membrane
Cell membrane
Cell surface
Cytoplasmic vesicle membrane
Endoplasmic reticulum membrane
Membrane

Domains

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DomainNameCategoryType
IPR000539 Frizzled/Smoothened, transmembrane domainDomainDomain
IPR015526 Frizzled/secreted frizzled-related proteinFamilyFamily
IPR017981 GPCR, family 2-likeDomainDomain
IPR020067 Frizzled domainDomainDomain
IPR026543 Frizzled-6FamilyFamily
IPR036790 Frizzled cysteine-rich domain superfamilyFamilyHomologous superfamily
IPR041770 Frizzled 6, cysteine-rich domainDomainDomain

Diseases

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Disease IDSourceNameDescription
161050 OMIMNail disorder, non-syndromic congenital, 1 (NDNC1)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions