Fuz fuzzy planar cell polarity protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fuzprovided by MGI
Official Full Name: fuzzy planar cell polarity proteinprovided by MGI
Primary source: MGI:MGI:1917550
See related: Ensembl:ENSMUSG00000011658 AllianceGenome:MGI:1917550
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: b2b1273Clo; 2600013E07Rik
Summary: Involved in several processes, including embryonic morphogenesis; non-motile cilium assembly; and regulation of signal transduction. Acts upstream of or within several processes, including animal organ development; embryonic digit morphogenesis; and positive regulation of protein processing. Predicted to be located in cell projection; cytoplasm; and cytoskeleton. Is expressed in several structures, including central nervous system; neural ectoderm; and notochord. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human FUZ (fuzzy planar cell polarity protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 71.2), ovary adult (RPKM 43.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 28.99 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (44545517..44552053)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (44894305..44900624)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development.
Title: The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development.
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
Title: Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
This paper reports a novel skull phenotype in a ciliopathic mutant mouse in which only a single calvarial bone plate encases the forebrain in mice lacking Fuz, an essential regulator of ciliogenesis.
Title: A novel ciliopathic skull defect arising from excess neural crest.
Fuzzy appears to control subcellular localization of the core PCP protein Dishevelled, recruiting it to Rab8-positive vesicles and to the basal body and cilium. We show that loss of Fuzzy results in inhibition of PCP signaling
Title: The PCP effector Fuzzy controls cilial assembly and signaling by recruiting Rab8 and Dishevelled to the primary cilium.
Using the ciliopathic Fuz mutant mouse, we find that high arched palate does not, as commonly suggested, arise from midface hypoplasia; rather, increased neural crest expands the maxillary primordia.
Title: Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes.
Data report the dynamic expression of another planar cell polarity gene, Fuzzy, during neural tube formation in mice.
Title: Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
The data demonstrate a new model for coordination of Hh and Wnt signaling and reveal a Fuz-dependent negative feedback loop controlling Wnt/beta-catenin signaling.
Title: Fuz regulates craniofacial development through tissue specific responses to signaling factors.
Data show that the functions of both Inturned and Fuzzy in neural tube patterning are dependent on the presence of cilia.
Title: PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube.
Fuz controls the morphogenesis and differentiation of hair follicles through the formation of primary cilia.
Title: Fuz controls the morphogenesis and differentiation of hair follicles through the formation of primary cilia.
Fuz plays an important role in cilia formation, Hh signal transduction, and embryonic development in mammals.
Title: Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (1)
Gene trapped (2) 1 citation

General gene information

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Markers

Ap2a1 (e-PCR), detects polymorphism
- UniSTS:141096

D7Bwg0826e (e-PCR), detects polymorphism
- UniSTS:142662

RH125092 (e-PCR)
- UniSTS:161914

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac septum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within coronary vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic neurocranium morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic neurocranium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of planar polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of planar polarity	NAS Non-traceable Author Statement more info	PubMed
involved_in hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within larynx morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within larynx morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neural crest formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube closure	ISO Inferred from Sequence Orthology more info
involved_in neural tube development	NAS Non-traceable Author Statement more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of cilium assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord dorsal/ventral patterning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tongue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein fuzzy homolog

Names: fuzzy homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001403450.1 → NP_001390379.1 protein fuzzy homolog isoform 1

Status: VALIDATED

Source sequence(s)

AC158231

UniProtKB/Swiss-Prot

Q3UYI6, Q9D0P9
NM_001403451.1 → NP_001390380.1 protein fuzzy homolog isoform 3

Status: VALIDATED

Source sequence(s)

AC158231

UniProtKB/TrEMBL

A0A140LIC9

Related

ENSMUST00000208291.2
NM_001403452.1 → NP_001390381.1 protein fuzzy homolog isoform 4

Status: VALIDATED

Source sequence(s)

AC158231

UniProtKB/Swiss-Prot

Q3UYI6, Q9D0P9
NM_001403453.1 → NP_001390382.1 protein fuzzy homolog isoform 5

Status: VALIDATED

Source sequence(s)

AC158231

UniProtKB/Swiss-Prot

Q3UYI6, Q9D0P9

UniProtKB/TrEMBL

A0A140LI55

Related

ENSMUSP00000146681.2, ENSMUST00000209039.2
NM_001403454.1 → NP_001390383.1 protein fuzzy homolog isoform 6

Status: VALIDATED

Source sequence(s)

AC158231

UniProtKB/TrEMBL

A0A140LJD3

Related

ENSMUSP00000147169.2, ENSMUST00000207485.2
NM_001403455.1 → NP_001390384.1 protein fuzzy homolog isoform 7

Status: VALIDATED

Source sequence(s)

AC158231

UniProtKB/TrEMBL

A0A140LI68
NM_001403456.1 → NP_001390385.1 protein fuzzy homolog isoform 8

Status: VALIDATED

Source sequence(s)

AC158231

UniProtKB/TrEMBL

A0A140LI68

Related

ENSMUSP00000146434.2, ENSMUST00000209132.2
NM_001403457.1 → NP_001390386.1 protein fuzzy homolog isoform 9

Status: VALIDATED

Source sequence(s)

AC158231

UniProtKB/TrEMBL

A0A140LI92

Related

ENSMUSP00000146725.2, ENSMUST00000208908.2
NM_027376.4 → NP_081652.2 protein fuzzy homolog isoform 2

Status: VALIDATED

Source sequence(s)

AC158231

Consensus CDS

CCDS52237.1

UniProtKB/Swiss-Prot

Q3UYI6, Q9D0P9

UniProtKB/TrEMBL

E9QL29

Related

ENSMUSP00000071194.8, ENSMUST00000071207.14