CFA53_MOUSE
ID CFA53_MOUSE Reviewed; 514 AA.
AC Q9D439; Q4KL15;
DT 15-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 3.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Cilia- and flagella-associated protein 53 {ECO:0000312|MGI:MGI:1921703};
DE AltName: Full=Coiled-coil domain-containing protein 11 {ECO:0000312|MGI:MGI:1921703};
GN Name=Cfap53 {ECO:0000312|MGI:MGI:1921703};
GN Synonyms=Ccdc11 {ECO:0000312|MGI:MGI:1921703};
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] (ISOFORM 2).
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] (ISOFORM 1).
RC TISSUE=Oocyte;
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).
CC -!- FUNCTION: Microtubule inner protein (MIP) part of the dynein-decorated
CC doublet microtubules (DMTs) in cilia axoneme, which is required for
CC motile cilia beating (By similarity). May play a role in the beating of
CC primary cilia and thereby be involved in the establishment of organ
CC laterality during embryogenesis (By similarity).
CC {ECO:0000250|UniProtKB:F1N7G5, ECO:0000250|UniProtKB:Q96M91}.
CC -!- SUBUNIT: Interacts with PIERCE1 and PIERCE2; the interactions link
CC outer dynein arms docking complex (ODA-DC) to the internal microtubule
CC inner proteins (MIP) in cilium axoneme. {ECO:0000250|UniProtKB:F1N7G5}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:F1N7G5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9D439-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9D439-2; Sequence=VSP_057233;
CC -!- SIMILARITY: Belongs to the CFAP53 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH99500.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={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; AK016821; BAB30450.1; -; mRNA.
DR EMBL; BC099500; AAH99500.1; ALT_INIT; mRNA.
DR CCDS; CCDS37857.2; -. [Q9D439-1]
DR RefSeq; NP_083224.2; NM_028948.2. [Q9D439-1]
DR RefSeq; XP_011245314.1; XM_011247012.1. [Q9D439-2]
DR AlphaFoldDB; Q9D439; -.
DR SMR; Q9D439; -.
DR STRING; 10090.ENSMUSP00000110545; -.
DR iPTMnet; Q9D439; -.
DR PhosphoSitePlus; Q9D439; -.
DR MaxQB; Q9D439; -.
DR PaxDb; Q9D439; -.
DR PRIDE; Q9D439; -.
DR ProteomicsDB; 280085; -. [Q9D439-1]
DR ProteomicsDB; 280086; -. [Q9D439-2]
DR Ensembl; ENSMUST00000114895; ENSMUSP00000110545; ENSMUSG00000035394. [Q9D439-1]
DR GeneID; 74453; -.
DR KEGG; mmu:74453; -.
DR UCSC; uc008fpl.2; mouse. [Q9D439-1]
DR CTD; 220136; -.
DR MGI; MGI:1921703; Cfap53.
DR VEuPathDB; HostDB:ENSMUSG00000035394; -.
DR eggNOG; ENOG502QRDR; Eukaryota.
DR GeneTree; ENSGT00940000168426; -.
DR HOGENOM; CLU_036489_1_0_1; -.
DR InParanoid; Q9D439; -.
DR OMA; MQIAHQQ; -.
DR OrthoDB; 1167111at2759; -.
DR PhylomeDB; Q9D439; -.
DR TreeFam; TF329393; -.
DR BioGRID-ORCS; 74453; 3 hits in 72 CRISPR screens.
DR ChiTaRS; Cfap53; mouse.
DR PRO; PR:Q9D439; -.
DR Proteomes; UP000000589; Chromosome 18.
DR RNAct; Q9D439; protein.
DR Bgee; ENSMUSG00000035394; Expressed in animal zygote and 54 other tissues.
DR ExpressionAtlas; Q9D439; baseline and differential.
DR Genevisible; Q9D439; MM.
DR GO; GO:0097728; C:9+0 motile cilium; IDA:MGI.
DR GO; GO:0097729; C:9+2 motile cilium; IDA:MGI.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IDA:MGI.
DR GO; GO:0034451; C:centriolar satellite; IDA:MGI.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0036126; C:sperm flagellum; IDA:MGI.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IMP:MGI.
DR GO; GO:0060271; P:cilium assembly; IEA:InterPro.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR GO; GO:0007368; P:determination of left/right symmetry; ISO:MGI.
DR GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IMP:MGI.
DR GO; GO:0051649; P:establishment of localization in cell; IMP:MGI.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:MGI.
DR GO; GO:0120229; P:protein localization to motile cilium; IMP:MGI.
DR InterPro; IPR033365; CFAP53.
DR InterPro; IPR043596; CFAP53/TCHP.
DR InterPro; IPR043597; TPH_dom.
DR PANTHER; PTHR31183; PTHR31183; 1.
DR PANTHER; PTHR31183:SF1; PTHR31183:SF1; 1.
DR Pfam; PF13868; TPH; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Cytoskeleton; Developmental protein; Reference proteome.
FT CHAIN 1..514
FT /note="Cilia- and flagella-associated protein 53"
FT /id="PRO_0000089408"
FT REGION 261..296
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 495..514
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 91..176
FT /evidence="ECO:0000255"
FT COILED 205..478
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..86
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_057233"
SQ SEQUENCE 514 AA; 61911 MW; C327DD862CFA7AAB CRC64;
MYSQQFGTVP REFKGPTPKA VIIRAKPPKA QRAEQHLKRI QRSYHKYHTT LASIKSNEEN
RLKCDWIQRN NHKTFDSLVQ ARVQDAMQGF VINTEERRNK LRELLASEEN EYFSEMQLKG
ETIEEKKDKM RERTKLLREK KEKERQEFVA EKLDQQFRER CEELRTKLAS IHEKKVVEER
NAQIEFNKEL KRQKLVEEHL FARLWEEDRL AKERREAQEE KRQRELVQNT RLGLDAQVTS
IQAQRQGARR MKEEEARILE QNKAQIKRED EQEKLQKQKR RQETRSSLKK AVQDKIESMQ
REYREDLDLN MKLVGRALQD LQDEADKKKQ KREEMGREQK IYNDYLMQRR EEEKAQEKEL
NRLLEDIKAK KLAEKDRELA LQRAARKQLM NEVMNTRKLQ VQERLQRKLR EQEELALHEQ
RISESLKVLH QEDMEDFARR CALAEEYRNQ LQMQIAHQQQ AREAEKEEER QEFEAGLAAN
KACLDKIQRI LSENQALSQN VHPMRRGYPD KPPL
