FLTOP_MOUSE
ID FLTOP_MOUSE Reviewed; 189 AA.
AC Q6P8X9; Q9DAJ1;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 96.
DE RecName: Full=Protein Flattop {ECO:0000305};
DE AltName: Full=Cilia- and flagella-associated protein 126 {ECO:0000312|MGI:MGI:1922722};
GN Name=Cfap126 {ECO:0000312|MGI:MGI:1922722};
GN Synonyms=Fltp {ECO:0000303|PubMed:25296022};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=22153975; DOI=10.1016/j.diff.2011.11.003;
RA Lange A., Gegg M., Burtscher I., Bengel D., Kremmer E., Lickert H.;
RT "Fltp(T2AiCre): a new knock-in mouse line for conditional gene targeting in
RT distinct mono- and multiciliated tissues.";
RL Differentiation 83:S105-S113(2012).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE,
RP DISRUPTION PHENOTYPE, AND INTERACTION WITH DLG3.
RX PubMed=25296022; DOI=10.7554/elife.03842;
RA Gegg M., Boettcher A., Burtscher I., Hasenoeder S., Van Campenhout C.,
RA Aichler M., Walch A., Grant S.G., Lickert H.;
RT "Flattop regulates basal body docking and positioning in mono- and
RT multiciliated cells.";
RL Elife 3:0-0(2014).
CC -!- FUNCTION: Acts as a regulator of cilium basal body docking and
CC positioning in mono- and multiciliated cells. Regulates basal body
CC docking and cilia formation in multiciliated lung cells. Regulates
CC kinocilium positioning and stereocilia bundle morphogenesis in the
CC inner ear. {ECO:0000269|PubMed:25296022}.
CC -!- SUBUNIT: Interacts with DLG3. {ECO:0000269|PubMed:25296022}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000269|PubMed:25296022}. Cell projection, cilium
CC {ECO:0000269|PubMed:25296022}. Apical cell membrane
CC {ECO:0000269|PubMed:25296022}. Note=Localizes to the apical cell
CC membrane, the basal body and the primary cilium in monociliated node
CC cells. Microtubule inner protein (MIP) part of the dynein-decorated
CC doublet microtubules (DMTs) in cilia axoneme (By similarity).
CC {ECO:0000250|UniProtKB:Q3SZT6, ECO:0000269|PubMed:25296022}.
CC -!- TISSUE SPECIFICITY: Expressed in mono- and multiciliated tissues during
CC planar cell polarity acquisition. {ECO:0000269|PubMed:22153975,
CC ECO:0000269|PubMed:25296022}.
CC -!- DEVELOPMENTAL STAGE: First detected in the embryonic node at 7.5 dpc.
CC At 8.5-13.5 dpc, strong expression is detected in tissues that are
CC either mono- or multiciliated, such as the eye, notochord, floor plate
CC of the neural tube and all 4 choroid plexi. Expressed during
CC development and early postnatal life in all 6 sensory regions of the
CC inner ear. {ECO:0000269|PubMed:22153975, ECO:0000269|PubMed:25296022}.
CC -!- DISRUPTION PHENOTYPE: mice were born at the expected Mendelian ratio
CC and are viable and fertile but show basal body docking and ciliogenesis
CC defects in multiciliated lung cells. {ECO:0000269|PubMed:25296022}.
CC -!- SIMILARITY: Belongs to the Flattop family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB24245.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK005804; BAB24245.1; ALT_FRAME; mRNA.
DR EMBL; BC061017; AAH61017.1; -; mRNA.
DR CCDS; CCDS35771.1; -.
DR RefSeq; NP_001074744.1; NM_001081275.1.
DR RefSeq; XP_006497081.1; XM_006497018.2.
DR RefSeq; XP_006497082.1; XM_006497019.3.
DR RefSeq; XP_006497083.1; XM_006497020.2.
DR RefSeq; XP_017168085.1; XM_017312596.1.
DR AlphaFoldDB; Q6P8X9; -.
DR SMR; Q6P8X9; -.
DR STRING; 10090.ENSMUSP00000027959; -.
DR PhosphoSitePlus; Q6P8X9; -.
DR MaxQB; Q6P8X9; -.
DR PaxDb; Q6P8X9; -.
DR PRIDE; Q6P8X9; -.
DR ProteomicsDB; 271775; -.
DR Antibodypedia; 50104; 47 antibodies from 11 providers.
DR DNASU; 75472; -.
DR Ensembl; ENSMUST00000027959; ENSMUSP00000027959; ENSMUSG00000026649.
DR GeneID; 75472; -.
DR KEGG; mmu:75472; -.
DR UCSC; uc007dna.1; mouse.
DR CTD; 257177; -.
DR MGI; MGI:1922722; Cfap126.
DR VEuPathDB; HostDB:ENSMUSG00000026649; -.
DR eggNOG; ENOG502S5M4; Eukaryota.
DR GeneTree; ENSGT00390000001092; -.
DR InParanoid; Q6P8X9; -.
DR OMA; TFMGTWQ; -.
DR OrthoDB; 1487116at2759; -.
DR TreeFam; TF329474; -.
DR BioGRID-ORCS; 75472; 0 hits in 71 CRISPR screens.
DR PRO; PR:Q6P8X9; -.
DR Proteomes; UP000000589; Chromosome 1.
DR RNAct; Q6P8X9; protein.
DR Bgee; ENSMUSG00000026649; Expressed in olfactory epithelium and 146 other tissues.
DR ExpressionAtlas; Q6P8X9; baseline and differential.
DR Genevisible; Q6P8X9; MM.
DR GO; GO:0016324; C:apical plasma membrane; IDA:UniProtKB.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0044782; P:cilium organization; IMP:UniProtKB.
DR InterPro; IPR038797; Fltp.
DR PANTHER; PTHR34639; PTHR34639; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Cell projection; Cilium biogenesis/degradation; Cytoplasm;
KW Cytoskeleton; Membrane; Reference proteome.
FT CHAIN 1..189
FT /note="Protein Flattop"
FT /id="PRO_0000316973"
FT REGION 112..189
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 127..172
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 189 AA; 20550 MW; 0A35B8F348704E15 CRC64;
MATNYSANQY EKAYLPTYLQ NWSPARPTKE KIAAHEGYTQ IIANDRGHLL PSVPRSKASP
WGSFMGTWQM PLKIPPAKVT LTARTTTAAD NLTKWIHKNP DLLNACNGLR PEISGKPFDP
DSQTKQKKSV TKTVQQAPNP TIIPSSPVIQ GDNPDEPQSS HPSAGHTPGP QTPVNSPNNP
PPSPCKSTK