CFA43_MOUSE
ID CFA43_MOUSE Reviewed; 1682 AA.
AC E9Q7R9;
DT 10-OCT-2018, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 1.
DT 03-AUG-2022, entry version 72.
DE RecName: Full=Cilia- and flagella-associated protein 43 {ECO:0000303|PubMed:28552195};
GN Name=Cfap43 {ECO:0000303|PubMed:28552195, ECO:0000312|MGI:MGI:1289258};
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 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 [2]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [3]
RP DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, AND FUNCTION.
RX PubMed=28552195; DOI=10.1016/j.ajhg.2017.04.012;
RA Tang S., Wang X., Li W., Yang X., Li Z., Liu W., Li C., Zhu Z., Wang L.,
RA Wang J., Zhang L., Sun X., Zhi E., Wang H., Li H., Jin L., Luo Y., Wang J.,
RA Yang S., Zhang F.;
RT "Biallelic mutations in CFAP43 and CFAP44 cause male infertility with
RT multiple morphological abnormalities of the sperm flagella.";
RL Am. J. Hum. Genet. 100:854-864(2017).
RN [4]
RP DISRUPTION PHENOTYPE, AND FUNCTION.
RX PubMed=29449551; DOI=10.1038/s41467-017-02792-7;
RA Coutton C., Vargas A.S., Amiri-Yekta A., Kherraf Z.E., Ben Mustapha S.F.,
RA Le Tanno P., Wambergue-Legrand C., Karaouzene T., Martinez G., Crouzy S.,
RA Daneshipour A., Hosseini S.H., Mitchell V., Halouani L., Marrakchi O.,
RA Makni M., Latrous H., Kharouf M., Deleuze J.F., Boland A., Hennebicq S.,
RA Satre V., Jouk P.S., Thierry-Mieg N., Conne B., Dacheux D., Landrein N.,
RA Schmitt A., Stouvenel L., Lores P., El Khouri E., Bottari S.P., Faure J.,
RA Wolf J.P., Pernet-Gallay K., Escoffier J., Gourabi H., Robinson D.R.,
RA Nef S., Dulioust E., Zouari R., Bonhivers M., Toure A., Arnoult C.,
RA Ray P.F.;
RT "Mutations in CFAP43 and CFAP44 cause male infertility and flagellum
RT defects in Trypanosoma and human.";
RL Nat. Commun. 9:686-686(2018).
RN [5]
RP FUNCTION, DISRUPTION PHENOTYPE, SUBCELLULAR LOCATION, TISSUE SPECIFICITY,
RP AND DEVELOPMENTAL STAGE.
RX PubMed=31884020; DOI=10.1016/j.ydbio.2019.12.010;
RA Rachev E., Schuster-Gossler K., Fuhl F., Ott T., Tveriakhina L.,
RA Beckers A., Hegermann J., Boldt K., Mai M., Kremmer E., Ueffing M.,
RA Blum M., Gossler A.;
RT "CFAP43 modulates ciliary beating in mouse and Xenopus.";
RL Dev. Biol. 459:109-125(2020).
CC -!- FUNCTION: Flagellar protein involved in sperm flagellum axoneme
CC organization and function (PubMed:28552195, PubMed:29449551,
CC PubMed:31884020). Involved in the regulation of the beating frequency
CC of motile cilia on the epithelial cells of the respiratory tract
CC (PubMed:31884020). {ECO:0000269|PubMed:28552195,
CC ECO:0000269|PubMed:29449551}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q57WH1}. Cytoplasm, cytoskeleton, flagellum
CC axoneme {ECO:0000250|UniProtKB:Q57WH1}. Cytoplasm, cytoskeleton, cilium
CC axoneme {ECO:0000269|PubMed:31884020}.
CC -!- TISSUE SPECIFICITY: Expressed in testis (PubMed:28552195). Expressed in
CC the lung, brain, oviduct and nasal cavity (PubMed:31884020).
CC {ECO:0000269|PubMed:28552195, ECO:0000269|PubMed:31884020}.
CC -!- DEVELOPMENTAL STAGE: During embryonic development, detected in the
CC left-right organizer at 8.25 dpc and in 17.5 dpc embryos, detected in
CC epithelial cells lining the respiratory tract, brain ependymal cells
CC and the choroid plexus. {ECO:0000269|PubMed:31884020}.
CC -!- DISRUPTION PHENOTYPE: Mice are viable and show no malformations.
CC However, homozygous males exhibit complete male sterility due to severe
CC defects in sperm mobility. Sperm from mutant mice exhibits
CC teratozoospermia characterized by short, thick, and coiled flagella and
CC sperm axonemal defects. Females are fertile and give litters of normal
CC size (PubMed:28552195, PubMed:29449551, PubMed:31884020). Mice display
CC early onset hydrocephalus and severe mucus accumulation in the nasal
CC cavity (PubMed:31884020). {ECO:0000269|PubMed:28552195,
CC ECO:0000269|PubMed:29449551, ECO:0000269|PubMed:31884020}.
CC -!- SIMILARITY: Belongs to the CFAP43 family. {ECO:0000305}.
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DR EMBL; AC126679; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC131719; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS57146.1; -.
DR RefSeq; NP_081835.2; NM_027559.2.
DR AlphaFoldDB; E9Q7R9; -.
DR STRING; 10090.ENSMUSP00000125007; -.
DR iPTMnet; E9Q7R9; -.
DR PhosphoSitePlus; E9Q7R9; -.
DR MaxQB; E9Q7R9; -.
DR PaxDb; E9Q7R9; -.
DR PRIDE; E9Q7R9; -.
DR ProteomicsDB; 318422; -.
DR Antibodypedia; 77712; 4 antibodies from 4 providers.
DR Ensembl; ENSMUST00000160247; ENSMUSP00000125007; ENSMUSG00000044948.
DR GeneID; 100048534; -.
DR KEGG; mmu:100048534; -.
DR UCSC; uc012bnf.1; mouse.
DR CTD; 80217; -.
DR MGI; MGI:1289258; Cfap43.
DR VEuPathDB; HostDB:ENSMUSG00000044948; -.
DR eggNOG; ENOG502QQ39; Eukaryota.
DR GeneTree; ENSGT00530000064714; -.
DR HOGENOM; CLU_000937_1_0_1; -.
DR InParanoid; E9Q7R9; -.
DR OMA; LLNMDQF; -.
DR OrthoDB; 555110at2759; -.
DR PhylomeDB; E9Q7R9; -.
DR TreeFam; TF326434; -.
DR BioGRID-ORCS; 100048534; 2 hits in 57 CRISPR screens.
DR ChiTaRS; Cfap43; mouse.
DR PRO; PR:E9Q7R9; -.
DR Proteomes; UP000000589; Chromosome 19.
DR Bgee; ENSMUSG00000044948; Expressed in spermatid and 68 other tissues.
DR ExpressionAtlas; E9Q7R9; baseline and differential.
DR Genevisible; E9Q7R9; MM.
DR GO; GO:0097729; C:9+2 motile cilium; IDA:MGI.
DR GO; GO:0005930; C:axoneme; IDA:MGI.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0007420; P:brain development; IMP:MGI.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IMP:MGI.
DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; ISO:MGI.
DR GO; GO:0051649; P:establishment of localization in cell; IMP:MGI.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:UniProtKB.
DR GO; GO:0044458; P:motile cilium assembly; IMP:MGI.
DR GO; GO:0120197; P:mucociliary clearance; IMP:MGI.
DR GO; GO:0003356; P:regulation of cilium beat frequency; IMP:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR039692; CFAP43.
DR InterPro; IPR011044; Quino_amine_DH_bsu.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR14885:SF1; PTHR14885:SF1; 1.
DR SMART; SM00320; WD40; 3.
DR SUPFAM; SSF50969; SSF50969; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Coiled coil; Cytoplasm; Cytoskeleton;
KW Differentiation; Flagellum; Reference proteome; Repeat; Spermatogenesis;
KW WD repeat.
FT CHAIN 1..1682
FT /note="Cilia- and flagella-associated protein 43"
FT /id="PRO_0000445512"
FT REPEAT 168..207
FT /note="WD 1"
FT /evidence="ECO:0000255"
FT REPEAT 262..305
FT /note="WD 2"
FT /evidence="ECO:0000255"
FT REPEAT 315..354
FT /note="WD 3"
FT /evidence="ECO:0000255"
FT REPEAT 358..397
FT /note="WD 4"
FT /evidence="ECO:0000255"
FT REPEAT 488..527
FT /note="WD 5"
FT /evidence="ECO:0000255"
FT REPEAT 697..738
FT /note="WD 6"
FT /evidence="ECO:0000255"
FT REGION 767..790
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 926..960
FT /evidence="ECO:0000255"
FT COILED 1171..1223
FT /evidence="ECO:0000255"
FT COMPBIAS 772..790
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1682 AA; 193426 MW; 14A6C6A6835E7CA7 CRC64;
MSQDPERDDV TASATASASA SAPASASAHY SGSSLSVRWV QGFPSQNVHF VNDQTICYPS
GNFVIFINLE TKKKTVLQCI NGIVGVMATN VPSEVVAFSD RRFKPVIYIY SFPSLTRKNK
LKGDILLDYT LLCFSYCGTY LASYSSLPEF ELALWNWEAS AILCKKSNPG MDVSQMSFNP
MNWHQMCLSS SSAMSVWTIE RSNQEHHFRI RSVKLPLEDA TFLNEPDMLF PTTLPKDLIY
GPVLPLSAIA GLVGEEAETF RPKDDIYPLL HPTMHCWTPS SDLYVGCEEG HLLMINTETL
KVTVLQKAEE FPLPDGAPLI NPLTLVYQKD GILASGIDGV IYSFIIKDSK YQVKTFLEFD
GPVTHLVFSP SYKMLLIQTD KGSVYIYTFG AEMPLDKLLD ACDGKVQAVS FITPGTKYFL
TLTSSGEVST VSLEDCNCTS RIFLKTQATA LACSPSSPTA AVGTVDGYVY FLNILDVESP
QMIHQAFLSQ SPVKIVTYDQ RGIFLLVGTE EGNIFVIDAR PSKSFQIFGF TETGKDILQI
STVSVMESDV VEVLVLYPLP DMGRSRLEYF TLPVMLPEVV PENFSDERGR LKDDLTHKYL
YEVEHTLSSA VLGFTGSKIF GFCSQVPYIC SYVMPVKEHT GVLVLKPHQK VQSKQYGSGT
IYLSSHGLWL MTIAKCGILC IRDMFSMETF VRCRSHSHQG RGIQNMKMSL DGQHILVNGK
DDNTLVCLKW KRLGANIASE IFEHSRPLVL HLSQTVESES VYLALSREST NEQQEETTES
QKHLNSDSSE EEAVIDHKMI PWIQQKMEEA IKKEVRIFSP RRKEIKRGIK ELAQVIAMMM
EENEKVDIIA KLDEQEFCLD ADELERLHDE CEEEVAKIRK DVEMHNLAQS YLTELIKEEC
WNSMAVKGRA LKCFHIPYVV DNFPMKERTE EELQELSKVM QQKKTEIECL KLRKEIVEVQ
ATTTIAKKHH EEEEEEEEDE ERTIKTTSLP NYLLGSLSTD FGADTSLLTS QLDLHSREEK
INQIILLKDI IYNIKRNFNS EFDAAYKQKE IEIARVKEKN VRIAEIISDL ELEETVWQPV
FEDSEKPERA LVVEDDEISF KKYIAPWQRA KIKEVVSTYE MERLQQARIS DERQRGLMDM
MGGVLEVKKE DILRMVIPQP PFMAKADALW SEDERKQFKE YEKKVKELNE ERDKYRKSLE
AELKKLQNSI QESTQNFDDH LKRLFERRVK AEMVINQEEL KINNIIFSLL LDEELSSREQ
FLNNYLLKKQ EEKTKTAEAI QKAREDLDVF KEHHDMLVAE DKILDRSFKK EFSDILGHQV
DVLYKLFKRR PRVHKQKTQA DVTSLVPYGE RPGSAKLNKE NLAQLMKSMD ELDNINNMPE
GLDPSVWEHF CSTRRAKVEN EYKVKQKAAC LLEMTTFLRK RMEEDDVVHH EIEKVFHELI
RLQDEKVRFQ VNLTVQILLK QGQVELENFQ LMLEYSDAIL INKNIIEDLN SVIRTQGQKK
VASMMESKEV HKGIYQIEWE HKKMEMEMED LNQRAWDIEM LFFSRDRQKY LNEPNYENVI
AIQIGIMEQT ISVIDKTHKK NVENCKKLLK KLGKYSNQKD VANYTLSCNL REELVAVSER
QDICNEIGSK LTCEKIARER YDNQLKQQKL LNISKQQAEQ ISILQAEVER LRMKTFPALI
PM
