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FUZ
HPA
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  • SUMMARY

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  • STRUCT & INT

  • FUZ
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

FUZ
Synonyms CPLANE3, FLJ22688, Fy
Gene descriptioni

Full gene name according to HGNC.

Fuzzy planar cell polarity protein
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 19
Cytoband q13.33
Chromosome location (bp) 49806866 - 49817376
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

6
Ensembl ENSG00000010361 (version 109)
Entrez gene 80199
HGNC HGNC:26219
UniProt Q9BT04 (UniProt - Evidence at protein level)
neXtProt NX_Q9BT04
GeneCards FUZ
Antibodypedia FUZ antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Developmental protein
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Cilium biogenesis/degradation, Protein transport, Transport
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
FUZ-201
ENSP00000313309
ENST00000313777
Q9BT04
[Direct mapping] Protein fuzzy homolog
Show all
A0A024QZF7
[Target identity:100%; Query identity:100%] Uncharacterized protein
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001736 [establishment of planar polarity]
GO:0001843 [neural tube closure]
GO:0001942 [hair follicle development]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0008285 [negative regulation of cell population proliferation]
GO:0008589 [regulation of smoothened signaling pathway]
GO:0010172 [embryonic body morphogenesis]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
GO:0021915 [neural tube development]
GO:0030030 [cell projection organization]
GO:0030336 [negative regulation of cell migration]
GO:0042073 [intraciliary transport]
GO:0042995 [cell projection]
GO:0045724 [positive regulation of cilium assembly]
GO:0048704 [embryonic skeletal system morphogenesis]
GO:0060271 [cilium assembly]
GO:0070062 [extracellular exosome]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090301 [negative regulation of neural crest formation]
GO:1902017 [regulation of cilium assembly]
GO:1905515 [non-motile cilium assembly]
GO:2000314 [negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation]
Show all
418 aa
45.7 kDa
No 0
FUZ-207
ENSP00000433164
ENST00000526575
E9PKJ4
[Direct mapping] Protein fuzzy homolog
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Show all
GO:0016192 [vesicle-mediated transport]
Show all
86 aa
9.3 kDa
No 0
FUZ-212
ENSP00000435177
ENST00000528094
Q9BT04
[Direct mapping] Protein fuzzy homolog
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0001736 [establishment of planar polarity]
GO:0001843 [neural tube closure]
GO:0001942 [hair follicle development]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0008285 [negative regulation of cell population proliferation]
GO:0008589 [regulation of smoothened signaling pathway]
GO:0010172 [embryonic body morphogenesis]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
GO:0021915 [neural tube development]
GO:0030030 [cell projection organization]
GO:0030336 [negative regulation of cell migration]
GO:0042073 [intraciliary transport]
GO:0042995 [cell projection]
GO:0045724 [positive regulation of cilium assembly]
GO:0048704 [embryonic skeletal system morphogenesis]
GO:0060271 [cilium assembly]
GO:0070062 [extracellular exosome]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090301 [negative regulation of neural crest formation]
GO:1902017 [regulation of cilium assembly]
GO:1905515 [non-motile cilium assembly]
GO:2000314 [negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation]
Show all
382 aa
41.6 kDa
No 0
FUZ-213
ENSP00000471793
ENST00000529302
M0R1D4
[Direct mapping] Protein fuzzy homolog
Show all
   SPOCTOPUS predicted secreted proteins
   DeepSig predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Show all
58 aa
6.4 kDa
No 0
FUZ-214
ENSP00000432148
ENST00000529634
E9PS25
[Direct mapping] Protein fuzzy homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Show all
GO:0016192 [vesicle-mediated transport]
Show all
56 aa
6.5 kDa
No 0
FUZ-216
ENSP00000431731
ENST00000533418
E9PK12
[Direct mapping] Protein fuzzy homolog
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Show all
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0016192 [vesicle-mediated transport]
Show all
368 aa
40.7 kDa
No 1

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