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