FLTOP_HUMAN
ID FLTOP_HUMAN Reviewed; 177 AA.
AC Q5VTH2;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=Protein Flattop {ECO:0000305};
DE AltName: Full=Cilia- and flagella-associated protein 126 {ECO:0000312|HGNC:HGNC:32325};
GN Name=CFAP126 {ECO:0000312|HGNC:HGNC:32325};
GN Synonyms=C1orf192 {ECO:0000312|HGNC:HGNC:32325},
GN FLTP {ECO:0000250|UniProtKB:Q6P8X9};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 24-177.
RX PubMed=8889548; DOI=10.1101/gr.6.9.791;
RA Bonaldo M.F., Lennon G., Soares M.B.;
RT "Normalization and subtraction: two approaches to facilitate gene
RT discovery.";
RL Genome Res. 6:791-806(1996).
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:0000250|UniProtKB:Q6P8X9}.
CC -!- SUBUNIT: Interacts with DLG3. {ECO:0000250|UniProtKB:Q6P8X9}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250|UniProtKB:Q6P8X9}. Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q6P8X9}. Apical cell membrane
CC {ECO:0000250|UniProtKB:Q6P8X9}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q3SZT6}. Note=Localizes to the apical cell
CC membrane, the basal body and the primary cilium in monociliated node
CC cells (By similarity). Microtubule inner protein (MIP) part of the
CC dynein-decorated doublet microtubules (DMTs) in cilia axoneme (By
CC similarity). {ECO:0000250|UniProtKB:Q3SZT6,
CC ECO:0000250|UniProtKB:Q6P8X9}.
CC -!- SIMILARITY: Belongs to the Flattop family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AL592295; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BU688150; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS30921.1; -.
DR RefSeq; NP_001013647.2; NM_001013625.3.
DR AlphaFoldDB; Q5VTH2; -.
DR SMR; Q5VTH2; -.
DR STRING; 9606.ENSP00000356951; -.
DR iPTMnet; Q5VTH2; -.
DR PhosphoSitePlus; Q5VTH2; -.
DR BioMuta; CFAP126; -.
DR DMDM; 74746942; -.
DR MassIVE; Q5VTH2; -.
DR PaxDb; Q5VTH2; -.
DR PeptideAtlas; Q5VTH2; -.
DR PRIDE; Q5VTH2; -.
DR ProteomicsDB; 65328; -.
DR Antibodypedia; 50104; 47 antibodies from 11 providers.
DR DNASU; 257177; -.
DR Ensembl; ENST00000367974.2; ENSP00000356951.1; ENSG00000188931.4.
DR GeneID; 257177; -.
DR KEGG; hsa:257177; -.
DR MANE-Select; ENST00000367974.2; ENSP00000356951.1; NM_001013625.4; NP_001013647.2.
DR UCSC; uc001gal.5; human.
DR CTD; 257177; -.
DR GeneCards; CFAP126; -.
DR HGNC; HGNC:32325; CFAP126.
DR HPA; ENSG00000188931; Tissue enhanced (fallopian tube, skeletal muscle).
DR MIM; 616119; gene.
DR neXtProt; NX_Q5VTH2; -.
DR OpenTargets; ENSG00000188931; -.
DR PharmGKB; PA142672403; -.
DR VEuPathDB; HostDB:ENSG00000188931; -.
DR eggNOG; ENOG502S5M4; Eukaryota.
DR GeneTree; ENSGT00390000001092; -.
DR HOGENOM; CLU_108980_0_0_1; -.
DR InParanoid; Q5VTH2; -.
DR OMA; TFMGTWQ; -.
DR OrthoDB; 1487116at2759; -.
DR PhylomeDB; Q5VTH2; -.
DR TreeFam; TF329474; -.
DR PathwayCommons; Q5VTH2; -.
DR SignaLink; Q5VTH2; -.
DR BioGRID-ORCS; 257177; 6 hits in 1055 CRISPR screens.
DR ChiTaRS; CFAP126; human.
DR GenomeRNAi; 257177; -.
DR Pharos; Q5VTH2; Tdark.
DR PRO; PR:Q5VTH2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VTH2; protein.
DR Bgee; ENSG00000188931; Expressed in right uterine tube and 112 other tissues.
DR Genevisible; Q5VTH2; HS.
DR GO; GO:0016324; C:apical plasma membrane; ISS:UniProtKB.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0044782; P:cilium organization; ISS:UniProtKB.
DR InterPro; IPR038797; Fltp.
DR PANTHER; PTHR34639; PTHR34639; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Cell projection; Cilium biogenesis/degradation; Cytoplasm;
KW Cytoskeleton; Membrane; Reference proteome.
FT CHAIN 1..177
FT /note="Protein Flattop"
FT /id="PRO_0000316972"
FT REGION 113..177
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 133..167
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 37
FT /note="G -> A (in Ref. 2; BU688150)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 177 AA; 19293 MW; 3D50FC792F5A8AF9 CRC64;
MATNYSANQY EKAFSSKYLQ NWSPTKPTKE SISSHEGYTQ IIANDRGHLL PSVPRSKANP
WGSFMGTWQM PLKIPPARVT LTSRTTAGAA SLTKWIQKNP DLLKASNGLC PEILGKPHDP
DSQKKLRKKS ITKTVQQARS PTIIPSSPAA NLNSPDELQS SHPSAGHTPG PQRPAKS
