CFA44_MOUSE
ID CFA44_MOUSE Reviewed; 1843 AA.
AC E9Q5M6;
DT 10-OCT-2018, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 1.
DT 03-AUG-2022, entry version 87.
DE RecName: Full=Cilia- and flagella-associated protein 44 {ECO:0000303|PubMed:29449551};
GN Name=Cfap44 {ECO:0000303|PubMed:29449551, ECO:0000312|MGI:MGI:1277238};
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 DISRUPTION PHENOTYPE, 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 [3]
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).
CC -!- FUNCTION: Flagellar protein involved in sperm flagellum axoneme
CC organization and function. {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}.
CC -!- TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:28552195}.
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 is characterized by
CC normal flagellum length, but most of them showed abnormal forms and
CC irregular caliber of the midpiece. Females are fertile and give litters
CC of normal size. {ECO:0000269|PubMed:28552195,
CC ECO:0000269|PubMed:29449551}.
CC -!- SIMILARITY: Belongs to the CFAP44 family. {ECO:0000305}.
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DR EMBL; AC147045; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS49854.1; -.
DR RefSeq; NP_001028419.1; NM_001033247.1.
DR RefSeq; XP_011244166.1; XM_011245864.2.
DR AlphaFoldDB; E9Q5M6; -.
DR STRING; 10090.ENSMUSP00000097331; -.
DR iPTMnet; E9Q5M6; -.
DR PhosphoSitePlus; E9Q5M6; -.
DR MaxQB; E9Q5M6; -.
DR PaxDb; E9Q5M6; -.
DR PRIDE; E9Q5M6; -.
DR ProteomicsDB; 340544; -.
DR Antibodypedia; 68151; 64 antibodies from 15 providers.
DR Ensembl; ENSMUST00000099742; ENSMUSP00000097331; ENSMUSG00000071550.
DR Ensembl; ENSMUST00000120049; ENSMUSP00000113908; ENSMUSG00000071550.
DR GeneID; 212517; -.
DR KEGG; mmu:212517; -.
DR UCSC; uc012agb.1; mouse.
DR CTD; 55779; -.
DR MGI; MGI:1277238; Cfap44.
DR VEuPathDB; HostDB:ENSMUSG00000071550; -.
DR eggNOG; KOG2106; Eukaryota.
DR GeneTree; ENSGT00940000161555; -.
DR HOGENOM; CLU_000928_0_0_1; -.
DR InParanoid; E9Q5M6; -.
DR OMA; FIMDRVH; -.
DR OrthoDB; 88812at2759; -.
DR PhylomeDB; E9Q5M6; -.
DR TreeFam; TF323192; -.
DR BioGRID-ORCS; 212517; 1 hit in 72 CRISPR screens.
DR ChiTaRS; Cfap44; mouse.
DR PRO; PR:E9Q5M6; -.
DR Proteomes; UP000000589; Chromosome 16.
DR RNAct; E9Q5M6; protein.
DR Bgee; ENSMUSG00000071550; Expressed in vasculature of organ and 41 other tissues.
DR ExpressionAtlas; E9Q5M6; baseline and differential.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0031514; C:motile cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0008233; F:peptidase activity; ISO:MGI.
DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR GO; GO:0060285; P:cilium-dependent cell motility; IBA:GO_Central.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:UniProtKB.
DR GO; GO:0000226; P:microtubule cytoskeleton organization; ISO:MGI.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 2.
DR SMART; SM00320; WD40; 8.
DR SUPFAM; SSF50978; SSF50978; 2.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 3.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Coiled coil; Cytoplasm; Cytoskeleton; Flagellum;
KW Phosphoprotein; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1843
FT /note="Cilia- and flagella-associated protein 44"
FT /id="PRO_0000445514"
FT REPEAT 214..255
FT /note="WD 1"
FT /evidence="ECO:0000255"
FT REPEAT 258..297
FT /note="WD 2"
FT /evidence="ECO:0000255"
FT REPEAT 308..346
FT /note="WD 3"
FT /evidence="ECO:0000255"
FT REPEAT 353..390
FT /note="WD 4"
FT /evidence="ECO:0000255"
FT REPEAT 456..495
FT /note="WD 5"
FT /evidence="ECO:0000255"
FT REPEAT 497..541
FT /note="WD 6"
FT /evidence="ECO:0000255"
FT REPEAT 561..600
FT /note="WD 7"
FT /evidence="ECO:0000255"
FT REPEAT 790..829
FT /note="WD 8"
FT /evidence="ECO:0000255"
FT REPEAT 842..881
FT /note="WD 9"
FT /evidence="ECO:0000255"
FT REPEAT 1699..1744
FT /note="WD 10"
FT /evidence="ECO:0000255"
FT REGION 1..86
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 701..726
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1040..1086
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1266..1291
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1488..1524
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1548..1603
FT /evidence="ECO:0000255"
FT COILED 1631..1665
FT /evidence="ECO:0000255"
FT COMPBIAS 1..27
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 28..42
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 704..724
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1043..1069
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1494..1522
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1069
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q96MT7"
SQ SEQUENCE 1843 AA; 211546 MW; CDF16B46FC233B0A CRC64;
MKEPDDQDTS DGGRSGSRNE GKLAHKSILK SSQDTTADSY TDGEESYLGD DLDLDDMDES
SHSSQEYVQA PAPSQEPPVE VKEEPEADVK KVLSETFYYD YPELVSIPYV SSEERIPLYF
LTLNHSFGYD CRKRANLQLL DSNTLLYVAG NQMVLLDFKD KTQIYLQSSS GQGIGAIGVH
PKKTYFAVAE KGSFPKIIIY EYPSLKPYRI LRDGAEKAYA YVDFNNEGNL LASVGCHPDY
TITIWGWKEE QPILRTKAFS QDVFKVTFNP DNDEQLTTSG SGHIKFWEMA FTFTGLKLQG
SLGRFGKTST SDIEGYAELP DGKVLSGSEW GNLLLWEGSL IKVELCRTGM KSCHSGSINQ
IMLDEGEVIT AGSDGSVRIW DFETIDTADV IDDTGLLEIE PINELHIDKS VNLFSMIKMN
EVGNNFWLAQ DANGAIWKLD LSFSNITQDP ECLFSFHSGP IAALAVSPLT YLMATTAMDC
SVRVYDFSSK NPLVHMKFKQ GGTSLIWAPR SVSVSASQIV VGFQDGVVRV LELFDPKGLT
VYAGRKKIPD AELHLKYVFK PHTDEVTALA YERDGDILAT GSEDKTVFFF DVEKEYKPIG
FFNTPGPICQ LMWSPASHPE KTLLIICENG YILESLCPTI KDVDDQNVIT FAIPNVFLRC
FHFTSVKSKI LRFLEVQRRE QQKMLKEKEK LERRMKLAEE REAFGEEEIP EEETSEEGEE
EEPPLPEIFM PPTPSPILCG FYSEPGKFWV SLGNYDAGFL YHCQFPSYLH NSDFQKQENE
PFDFRVLENT EDNPIRNITF SNDQTMMFCG MTNGAIRVYV LSENDPFLVS LQHYWHFNVH
DNNYGSIKSI TSSFDDQYLL TAGEDGNIFV FDIFSEFIVP KGIKAKVPSP RFGIESEAAP
EDIEDPKAYS IENARKKREH DKLMKKVEEL KAHKREQIKI LRNEFWKLLE LNKELPAHMQ
FQRTDFNIDA KIHAEIHKKT SLKIEQVEKE LAWEKQKHEL GLKKLQDRFR EPLESDTIVV
YATQSDHQIA SYRLVKPSKY SKLKRPSQSE RRQSKMERLE KEGPGKKESQ RDTGGSISLQ
EESVLEKGKK FRPRTLSEIM VENQIEKTKK LIQQAERAQF KILQRKKEWE ELYKSKPDDD
YEDPKDVQAI KEAQTYMGDF NLKTAPDYKI PEHMRINAAK KEEELGYLDT MAHGKKRYMN
KCILSLRDLK LAVIEEIQCL VQELKNIQSS IPASKHMPIP QVPQIYPEEV PERRFQYDEE
TLLRFQRKQK KRQDKSSSKQ SGTGSGGSAG GGLVGFLKLS SGKEGDLTTR DSLSRSSKAS
ALLELPKPVE FEKAEPSDAE LEIMKRDEVK HLYMQQFLCN RINELTVTFD AELHLLRHQK
LKLDTKMKLS DLHHLTLFQE MLLLKNFEKQ ENILQERVNS LDKEEQDMQW KINETLKEME
EKKNEITKLQ DQEKALYAGF QAALGENNKF ANFLMKVLKK KIKRAKKKEV EGDADEDEES
EESSEEESSL ESDEDASGSE DDVFDDSICP TNCDVSLFEL ALQLREKRLD IEEALVEEKK
IVDNLKKEYD TISKKVKVVA TNLNAAEEAL EAYQREKQQR LNELLVVIPL KLHQIEYMEF
GEVPEDLSGT LVFSNHSLDR LQERIVQLQE ENAKQQKLNK ECRERRKLLI REKREMAKTI
SKMEETVREL MISKFGRVID LEALQTLSVN TTLEELKIKK LRKELSNAKE LRMWEEKIAQ
VRWDLMMKTK EHTKKLHQMN DLCLEKKKLD SRLNTLQNQQ GNAFQGLRKA DIVAKQKVTE
LVQTQLEKIT ALKEEIELLR KKGGLLLPPI TPKPKNEMKP MDT
