CF276_MOUSE
ID CF276_MOUSE Reviewed; 168 AA.
AC Q9DAD0;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 99.
DE RecName: Full=Cilia- and flagella-associated protein 276;
GN Name=Cfap276 {ECO:0000250|UniProtKB:Q5T5A4};
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 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 MRNA].
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 [4]
RP TISSUE SPECIFICITY, MUTAGENESIS OF ILE-121, AND FUNCTION.
RX PubMed=31199454; DOI=10.1093/brain/awz151;
RA Sun S.C., Ma D., Li M.Y., Zhang R.X., Huang C., Huang H.J., Xie Y.Z.,
RA Wang Z.J., Liu J., Cai D.C., Liu C.X., Yang Q., Bao F.X., Gong X.L.,
RA Li J.R., Hui Z., Wei X.F., Zhong J.M., Zhou W.J., Shang X., Zhang C.,
RA Liu X.G., Tang B.S., Xiong F., Xu X.M.;
RT "Mutations in C1orf194, encoding a calcium regulator, cause dominant
RT Charcot-Marie-Tooth disease.";
RL Brain 142:2215-2229(2019).
CC -!- FUNCTION: May play an important role for the maintenance of myelin-axon
CC integrity (PubMed:31199454). May affect intracellular Ca(2+)
CC homeostasis. {ECO:0000250|UniProtKB:Q5T5A4}.
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 an important role for
CC the maintenance of myelin-axon integrity (PubMed:31199454). May affect
CC intracellular Ca(2+) homeostasis (By similarity).
CC {ECO:0000250|UniProtKB:E1B9I5, ECO:0000250|UniProtKB:Q5T5A4,
CC ECO:0000269|PubMed:31199454}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:E1B9I5}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q5T5A4}. Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:Q5T5A4}.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in nervous system tissues,
CC such as the spinal cord, cerebrum, cerebellum, and sciatic nerve.
CC {ECO:0000269|PubMed:31199454}.
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; AK005946; BAB24330.1; -; mRNA.
DR EMBL; AL683823; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC116223; AAI16224.1; -; mRNA.
DR CCDS; CCDS51046.1; -.
DR RefSeq; NP_083590.1; NM_029314.1.
DR AlphaFoldDB; Q9DAD0; -.
DR STRING; 10090.ENSMUSP00000029485; -.
DR iPTMnet; Q9DAD0; -.
DR PhosphoSitePlus; Q9DAD0; -.
DR MaxQB; Q9DAD0; -.
DR PaxDb; Q9DAD0; -.
DR PRIDE; Q9DAD0; -.
DR Antibodypedia; 33746; 46 antibodies from 9 providers.
DR Ensembl; ENSMUST00000029485; ENSMUSP00000029485; ENSMUSG00000027886.
DR GeneID; 75504; -.
DR KEGG; mmu:75504; -.
DR UCSC; uc008qze.2; mouse.
DR CTD; 127003; -.
DR MGI; MGI:1922754; 1700013F07Rik.
DR VEuPathDB; HostDB:ENSMUSG00000027886; -.
DR eggNOG; ENOG502S2J1; Eukaryota.
DR GeneTree; ENSGT01030000234625; -.
DR HOGENOM; CLU_133894_0_0_1; -.
DR InParanoid; Q9DAD0; -.
DR OMA; ANIRQWI; -.
DR OrthoDB; 1429280at2759; -.
DR PhylomeDB; Q9DAD0; -.
DR TreeFam; TF325898; -.
DR BioGRID-ORCS; 75504; 2 hits in 71 CRISPR screens.
DR PRO; PR:Q9DAD0; -.
DR Proteomes; UP000000589; Chromosome 3.
DR RNAct; Q9DAD0; protein.
DR Bgee; ENSMUSG00000027886; Expressed in seminiferous tubule of testis and 46 other tissues.
DR Genevisible; Q9DAD0; MM.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; ISS:UniProtKB.
DR GO; GO:0020037; F:heme binding; IBA:GO_Central.
DR GO; GO:0015232; F:heme transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0097037; P:heme export; IBA:GO_Central.
DR InterPro; IPR022179; DUF3695.
DR Pfam; PF12494; DUF3695; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..168
FT /note="Cilia- and flagella-associated protein 276"
FT /id="PRO_0000303066"
FT REGION 35..61
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 149..168
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 35..60
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MUTAGEN 121
FT /note="I->N: Knockin mice develop peripheral neuropathy
FT that mimic the phenotype of intermediate forms of Charcot-
FT Marie-Tooth disease. Knockin mice shown impairments in
FT motor and neuromuscular functions, and aberrant myelination
FT and axonal phenotypes."
FT /evidence="ECO:0000269|PubMed:31199454"
SQ SEQUENCE 168 AA; 18931 MW; 3BDDD8BDB48E667B CRC64;
MLQPQETFSN PALRDEDKHL GNLWASKKSL YKNPAHLAQQ QDPWSRLSST PTATSRSRDT
FFDSKIPKDD LDFRLATLYN HHTGAFKNKT EILLHQETIE DIQGTKIQFP GECFHAPSAP
ITSRTTIRHW INPKKESIHS IQGSIVSPHT AATNGGYSRK NDGGFFST
