CF300_MOUSE
ID CF300_MOUSE Reviewed; 267 AA.
AC Q8CC70;
DT 18-JUL-2018, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Cilia- and flagella-associated protein 300 {ECO:0000305};
GN Name=Cfap300 {ECO:0000250|UniProtKB:Q9BRQ4};
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=Epididymis;
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 GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=29727693; DOI=10.1016/j.ajhg.2018.03.025;
RA Hoeben I.M., Hjeij R., Olbrich H., Dougherty G.W., Noethe-Menchen T.,
RA Aprea I., Frank D., Pennekamp P., Dworniczak B., Wallmeier J., Raidt J.,
RA Nielsen K.G., Philipsen M.C., Santamaria F., Venditto L., Amirav I.,
RA Mussaffi H., Prenzel F., Wu K., Bakey Z., Schmidts M., Loges N.T.,
RA Omran H.;
RT "Mutations in C11orf70 cause primary ciliary dyskinesia with randomization
RT of left/right body asymmetry due to defects of outer and inner dynein
RT arms.";
RL Am. J. Hum. Genet. 102:973-984(2018).
CC -!- FUNCTION: Cilium- and flagellum-specific protein that plays a role in
CC axonemal structure organization and motility. May play a role in outer
CC and inner dynein arm assembly. {ECO:0000250|UniProtKB:A0CY51}.
CC -!- SUBUNIT: Interacts with DNAAF2. {ECO:0000250|UniProtKB:Q9BRQ4}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A0CY51}.
CC Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A0CY51}.
CC -!- TISSUE SPECIFICITY: Expressed in the left-right organiser (LRO) node at
CC 8.25 dpc. {ECO:0000269|PubMed:29727693}.
CC -!- SIMILARITY: Belongs to the CFAP300 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; AK033793; BAC28476.1; -; mRNA.
DR EMBL; AC139885; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466522; EDL24952.1; -; Genomic_DNA.
DR CCDS; CCDS22813.1; -.
DR RefSeq; NP_950182.1; NM_199017.2.
DR AlphaFoldDB; Q8CC70; -.
DR STRING; 10090.ENSMUSP00000063450; -.
DR iPTMnet; Q8CC70; -.
DR PhosphoSitePlus; Q8CC70; -.
DR REPRODUCTION-2DPAGE; IPI00228468; -.
DR MaxQB; Q8CC70; -.
DR PaxDb; Q8CC70; -.
DR PRIDE; Q8CC70; -.
DR ProteomicsDB; 340775; -.
DR Antibodypedia; 45426; 46 antibodies from 16 providers.
DR DNASU; 234912; -.
DR Ensembl; ENSMUST00000065291; ENSMUSP00000063450; ENSMUSG00000053070.
DR GeneID; 234912; -.
DR KEGG; mmu:234912; -.
DR UCSC; uc009odh.1; mouse.
DR CTD; 85016; -.
DR MGI; MGI:3045346; Cfap300.
DR VEuPathDB; HostDB:ENSMUSG00000053070; -.
DR eggNOG; ENOG502QUFH; Eukaryota.
DR GeneTree; ENSGT00510000047559; -.
DR HOGENOM; CLU_068703_0_0_1; -.
DR InParanoid; Q8CC70; -.
DR OMA; VVPCTQI; -.
DR OrthoDB; 1089634at2759; -.
DR PhylomeDB; Q8CC70; -.
DR TreeFam; TF329188; -.
DR BioGRID-ORCS; 234912; 0 hits in 72 CRISPR screens.
DR PRO; PR:Q8CC70; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; Q8CC70; protein.
DR Bgee; ENSMUSG00000053070; Expressed in spermatocyte and 165 other tissues.
DR ExpressionAtlas; Q8CC70; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR InterPro; IPR029416; CFAP300.
DR PANTHER; PTHR31078; PTHR31078; 1.
DR Pfam; PF14926; DUF4498; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..267
FT /note="Cilia- and flagella-associated protein 300"
FT /id="PRO_0000444628"
SQ SEQUENCE 267 AA; 30901 MW; B4C59F669D0E30BD CRC64;
MAAGEPRDGG GYYFRFLPHR TFSSLSAREI TSRLRQWSML GRIQAQAFSF DQTFQPYQKD
DFVMAFFKDP NVIPNLQLLS DSSGQWTTLG SEVKKIEAIN VPCTQLSMSF FQRLYDENIV
RESGHIVKCL DSFCDPFLIS DELRKVLLME DSEKYEVFSP VEREEFLFCL FKHLCLGGSL
CQYEDVLKPY LETAKLIYKD LVSVRKHPRT KEIQITSSVF KVKAYDSVGV CYPSPKEHEQ
TFSYFVVDPI KRHVNVLYHC YGVGHMA
