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CFA47_MOUSE
ID   CFA47_MOUSE             Reviewed;        3184 AA.
AC   A0A0G2JEB6;
DT   23-FEB-2022, integrated into UniProtKB/Swiss-Prot.
DT   16-OCT-2019, sequence version 2.
DT   03-AUG-2022, entry version 40.
DE   RecName: Full=Cilia and flagella-associated protein 47 {ECO:0000305};
GN   Name=Cfap47 {ECO:0000312|MGI:MGI:3781475};
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] {ECO:0000312|Ensembl:ENSMUSP00000142707, ECO:0000312|Proteomes:UP000000589}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=C57BL/6J {ECO:0000312|Ensembl:ENSMUSP00000142707,
RC   ECO:0000312|Proteomes:UP000000589};
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   FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CFAP65, AND TISSUE
RP   SPECIFICITY.
RX   PubMed=33472045; DOI=10.1016/j.ajhg.2021.01.002;
RA   Liu C., Tu C., Wang L., Wu H., Houston B.J., Mastrorosa F.K., Zhang W.,
RA   Shen Y., Wang J., Tian S., Meng L., Cong J., Yang S., Jiang Y., Tang S.,
RA   Zeng Y., Lv M., Lin G., Li J., Saiyin H., He X., Jin L., Toure A.,
RA   Ray P.F., Veltman J.A., Shi Q., O'Bryan M.K., Cao Y., Tan Y.Q., Zhang F.;
RT   "Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and
RT   primary male infertility.";
RL   Am. J. Hum. Genet. 108:309-323(2021).
CC   -!- FUNCTION: Plays a role in flagellar formation and sperm motility.
CC       {ECO:0000269|PubMed:33472045}.
CC   -!- SUBUNIT: Interacts with CFAP65. {ECO:0000269|PubMed:33472045}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum basal body
CC       {ECO:0000269|PubMed:33472045}.
CC   -!- TISSUE SPECIFICITY: Highly expressed in spermatzoa (at protein level).
CC       {ECO:0000269|PubMed:33472045}.
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DR   CCDS; CCDS90732.1; -.
DR   PhosphoSitePlus; A0A0G2JEB6; -.
DR   ProteomicsDB; 351396; -.
DR   Ensembl; ENSMUST00000197180; ENSMUSP00000142707; ENSMUSG00000073077.
DR   MGI; MGI:3781475; Cfap47.
DR   VEuPathDB; HostDB:ENSMUSG00000073077; -.
DR   GeneTree; ENSGT00940000159699; -.
DR   OMA; RDCKREL; -.
DR   ChiTaRS; Gm7173; mouse.
DR   Proteomes; UP000000589; Chromosome X.
DR   RNAct; A0A0G2JEB6; protein.
DR   Bgee; ENSMUSG00000073077; Expressed in animal zygote and 38 other tissues.
DR   ExpressionAtlas; A0A0G2JEB6; baseline and differential.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR   GO; GO:0097224; C:sperm connecting piece; IDA:UniProtKB.
DR   GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR   Gene3D; 1.10.418.10; -; 1.
DR   Gene3D; 2.60.40.10; -; 5.
DR   InterPro; IPR001715; CH-domain.
DR   InterPro; IPR036872; CH_dom_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   SMART; SM00033; CH; 1.
DR   SUPFAM; SSF47576; SSF47576; 1.
DR   PROSITE; PS50021; CH; 1.
PE   1: Evidence at protein level;
KW   Cell projection; Cilium; Cytoplasm; Cytoskeleton; Flagellum;
KW   Reference proteome.
FT   CHAIN           1..3184
FT                   /note="Cilia and flagella-associated protein 47"
FT                   /id="PRO_0000454186"
FT   DOMAIN          1729..1851
FT                   /note="Calponin-homology (CH)"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00044"
FT   REGION          2491..2514
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   3184 AA;  360346 MW;  9F1B479F88936C4B CRC64;
     MDAERGSVAP RDIDTLKKEV QLRVNPLVLK FQDAVSGKVY RLPLTVHNLG RWNQKIRFQE
     PSKPQFKLLL TSLDKELASG LQMTAMVEYH PNKNEDMSDH IFISVGNKVL DIPLFGLIPV
     CQLEIVPVVD FGTLVANSKV HCKEITIINR GKAPGKFKAE YQGQLPIVIS PSSGIVKAKT
     SMVIKVDFCA DQAQIVNEMA RVSLQGCPET FLNIKVRVVE QIIELFHMNS ERKLECIRFG
     SVFFGTSKLE HALLYNNSPE SINWVAIMQD DCVGEELGTN IHQRTDIAIN NISYLNKIKK
     IDMTDFMSCV PNEGTLLPYQ KIVITFCFSP KLVVDTKKDV GPSHRQDYAL FVRFDSVGSK
     DGFLRDDNSN TMKSNRLQKV ELALTGSGLP VILQFDPGKS LTFAPCHMGE HSDILCIVKN
     QSISLPVMYH FKKTAHFKMD PERGKIDEGC IQNVICSFVP HQIGVFKVKQ VIEIIGPVAD
     DNLRSLSMKP FLYIHLNFSS TCKAFTRKVG VKINPGISPL ISNPTRHFVA KDSEKKDDLP
     PVAAMLQSTA TKLHDHCLKD ESTKNALIAF PNDRATSIRS GDHHEHFRTI FTKIPRYDYT
     DPDYEYTDLE KLERKAHRDY YTNYINNLRT IRLRKEAQRE RKFPVNEVDI GMLPLSGLKS
     PPLSQSEIEE EIPPSLKASS LKANRLLSTK KIASRESECL QRKITRGLKS KPTTHQEKQE
     CSKVLTPKQI HQVIVGPSVL NFGNICVKST NTHLLHIVNM LPMYILIQLD VDFEELQKTK
     QFSYVIPPTS STYISMVFES STSGKFWKSF TFKINNIPGG HILVMAAILP VKLELSSNEI
     VLRPQSFLLK TCFRGTVRLY NHLNCPAQFG WKPVTTLRGI AFTICPAQGT VDPYCSLECE
     VTWQPGFSSP DKGEFLLQVS GGNTLTLKCI AHVGHTKVTF LEPRILFSNC SQGLTTWRKA
     ILHNIGQNHA YFKVCDQSLL STINIVPSEG IIPFGGITVL NISCTPSVAE KFDTRAKVAI
     HHANVIDLRI GGSVEIPDVE ILPSTFNFSG TYVGTTEIIP FIIKNRGVTR ARVEFNLKEF
     PLFAMDFKGN AGECKNVEGP YMYAIEVEEG TSAECGITFS PVEVATYDFS FPVLINSFKA
     SDLYCEYLSQ QKVLMPRVSP LIPPCFVQAT VLRAPLELSS TVFLFKIPLY EFQHNKEVTR
     IQDLVLHNIS KKTVLWSLDI GRIDKYFKSG IFKFTALIGS LKPNEKYTIS IHFCPKQTIT
     YLADVAIRLN DNLFDYRILH LIGEIQLPKI SFDPSFICFT PVPLDVTTGV DIRILPQNYF
     SNSTLHFKIP TAKLLDNDEI HPLTVTFPNG RVIKGSNTGL NDEILCHLSF SSSKPVSFFA
     NLFFSDDRNN WFSLPVTATS ENCILTIYLY LAVHLDTQRV VLKEEKQGNI KKPRGSFLVP
     RRDSKSFASQ KMKRGSLVPK FNDAEVICGN LFVGMEISRD YFDSDESIAE KLYAKYLEKE
     EKCQQFFAPE EGSKAFDYFQ KVVNAAQTWF SLFGWPEGPH SLSIPETIRR DVQKIQFYST
     SSPPKKFSRQ SDFSKYNKTI YDVILHLSGK LPPGINAGQS LPVDNVERVM QLHLQHASLL
     DFITAQGGCI SHVLPEFLLE PKDYMKWLEI TTATKSTALS TLKGNYSVNI DMDNFEAWSK
     RAWTDVFLQI YKVTILSRVT PHCTSSMPIL HGENKSKISP CFASSNIYSD SERILLSWLN
     TNYESQRTSI WKNNKSDVPP GRWIVNFDSD LLDGLVFATQ LAAYCPFLIE TYFINMYTKP
     KRPEQYLHNC LIIINSLREI GFDLNIQAID ICDPNPVLML MLCVYLYERL PTYLPKKVVP
     FSCTLYDVVV GQILLKNPSL KNLVYTATIV GRDANNFCLA QTGNVVTIGP KNHIVLVVKF
     VSRFLHPAEA TLLLISRPKC GIGGSTLAFA LKGEIRNFKA IDVIKCKAPC YQWKEVTVNV
     KNPFPSGGDF HVILVESTTL MYLPAQVTDS SKVSVMPDHM RSSDYAADQS SSHAENGLRT
     SIKSNFIREF FCSSTTLSLR PKTSSSIDVY YLPFDMHVRY CAIILSNKDI GDLIYIIEGR
     GLIPLPSNFL PLEPPSPIDY STSLEEDKED PILYLNCKPH QILDMDLKIP LTNEAKEKAL
     AFAAQQQMST LEYERRAISG TLESSTIRAA VALLGLTKIE CLLLFNMSKL KKPKSILYTT
     ELSLPAHFNI PRKIYIPQIP EPPDFHMQSL QIKPQIVSGE RPFQKPLPSI QAALEGTVSI
     PLRFAPLGSG RYPCKLLLLS RHDVRVYLLE GIVNEEVPEA ELLFKTPAFQ PLTQNIPIKN
     ESKKLSKFHV KIEGEWFHGP PILHVGPGET IQYPLTFKPI LECEIMGKLT LQNEVDGMAH
     IVEIDGIGTK PIALDHIIID CKVGKVTDKS IIVPNYTKSL LTFKVTSDLS IVWGNSFITI
     EPDDSIPYTL HVCPWKRGTF KGAIMFFVKS RDEEESQEET DTEKDFSSQE TPSDQSTIIF
     EEYSEEKVKA LKIWYHLEIR SSPGPPVDII ELHCIALETT CIEIPISNSK NQPVCLDVKL
     TCSALNGPVE MTLAPLESVT YIVWYSPATT GYKEESIIFQ PEMGEEFWYL LKLTTELPKP
     KEIPEMQCDL GKKIIQTLPL YNPTHETLEL RIRNSNPINF VIELNRKLPL VLLPHSTTEL
     SVYFHPSGLG RHGHETCINF YCTQFKEWKF YLFGVGLYPR PIELKRVTTI LGLQASVMVH
     FRNPTSEDVS VDLILTNKEQ PKGLAIDQCW KTFLHENAAF RFSSLRRTHG IIVPPKGNLD
     IPVLFIPSTM TLYKTMVIVK MKRTNKKNWL IDNFDELSAE TKRYMGVGYG EIQAIHWMYP
     IIGLPQAPPP KSSPVIIRCQ ANKQREEKVE VSMLGSFFNT HPKPDMTEFL VFPKRNVYKS
     IYEDVDVNSK RREFEYEIEF ESEDVKSNLD SFVTLYLFRK HFNVKSEIIS LIFNVIFTPR
     KPFRANVTLN VECITEGIWK FPITLIATEP EVEDVINIHG IGLFKTSETE FRLTSQTRYY
     EPFVAHFLPG SDQEFFVKPQ SGELPPFYTK GIVIIVGFKP RMYSKKYQAT LVIQTDEIYW
     LYEINGLAPS SKSLTHVTAK VDATSKIYDC MPPIQRNFIR ENAKLRSTAV SSTVKGAPLF
     KKHK
 
 
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