| 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.