| Tag | Content |
|---|---|
| Uniprot ID | Q3UYI6; Q9D0P9; |
| Entrez ID | 70300 |
| Genbank protein ID | AAH45601.1; BAB27459.1; BAE22226.1; |
| Genbank nucleotide ID | NM_027376.3 |
| Ensembl protein ID | ENSMUSP00000146434 |
| Ensembl nucleotide ID | ENSMUSG00000011658 |
| Gene name | Protein fuzzy homolog |
| Gene symbol | Fuz |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 21935430; 27158779; 27395007(calvaria); |
| Functional description | 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 (PubMed:19877275, PubMed:19767740, PubMed:27158779). May regulate the morphogenesis of hair follicles which depends on functional primary cilia (PubMed:20962855). |
| Sequence | MGDEGPGSPV HLLCLAASSG VPLFCRSSSG GAPSRQQLPF SVIGSLNGVH MFGQNLDVQL 60 NSARTEDTTV VWKNFHDSIT LIVLSSEEGT SELRLERMLH MVFGAMVLIV GLEELTNIRN 120 VERLKKELRA SYCLIDSFLG NSELIGDLTQ CVDCVIPPEG SAMQETLSGF AEATGTAFVS 180 LLVSGRVVAA TEGWWRLGMP EAVLLPWLVG SLPPQAARDY PVYLPHGSPT VPHRLLTLTL 240 LRGLELCLLC GPRPPLGQLD PQLMERWWQP LLEPLRACLP LGPRALPEGF PLHSDILGLL 300 LLHLELRRCL FTMEPSKDKE PSPEQRRRLL RNFYTLVATT HFPPEPGPAE KQEDTVYPAQ 360 MPRACYLVLG PGMGWQLVAV QLGLRLLLLL LSPHTPTHGL RSLATRTLQA LTPLL 415 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003674 | molecular_function | ND |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001736 | establishment of planar polarity | IMP |
| GO:0001843 | neural tube closure | ISO |
| GO:0001843 | neural tube closure | IMP |
| GO:0001942 | hair follicle development | IMP |
| GO:0003279 | cardiac septum development | IMP |
| GO:0008285 | negative regulation of cell population proliferation | IMP |
| GO:0008589 | regulation of smoothened signaling pathway | IMP |
| GO:0009952 | anterior/posterior pattern specification | IMP |
| GO:0010172 | embryonic body morphogenesis | IMP |
| GO:0010954 | positive regulation of protein processing | IMP |
| GO:0015031 | protein transport | IEA |
| GO:0021510 | spinal cord development | IMP |
| GO:0021513 | spinal cord dorsal/ventral patterning | IMP |
| GO:0030336 | negative regulation of cell migration | ISS |
| GO:0030336 | negative regulation of cell migration | ISO |
| GO:0035904 | aorta development | IMP |
| GO:0042733 | embryonic digit morphogenesis | IMP |
| GO:0045724 | positive regulation of cilium assembly | ISO |
| GO:0045724 | positive regulation of cilium assembly | IMP |
| GO:0048704 | embryonic skeletal system morphogenesis | IMP |
| GO:0060271 | cilium assembly | IMP |
| GO:0060976 | coronary vasculature development | IMP |
| GO:0090090 | negative regulation of canonical Wnt signaling pathway | IMP |
| GO:0090301 | negative regulation of neural crest formation | IMP |
| GO:1905515 | non-motile cilium assembly | ISO |
| GO:1905515 | non-motile cilium assembly | IMP |
| GO:2000314 | negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005737 | cytoplasm | IEA |
| GO:0005856 | cytoskeleton | IEA |
| GO:0042995 | cell projection | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-5358351 | Signaling by Hedgehog | IEA |
| R-MMU-5610787 | Hedgehog 'off' state | IEA |
| InterPro ID | InterPro Term |
|---|---|
| IPR026069 | Fuzzy |