CFA65_MOUSE
ID CFA65_MOUSE Reviewed; 1847 AA.
AC Q3V0B4;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-OCT-2005, sequence version 1.
DT 03-AUG-2022, entry version 96.
DE RecName: Full=Cilia- and flagella-associated protein 65 {ECO:0000305};
DE AltName: Full=Coiled-coil domain-containing protein 108 {ECO:0000312|MGI:MGI:2444274};
GN Name=Cfap65 {ECO:0000250|UniProtKB:Q6ZU64};
GN Synonyms=Ccdc108 {ECO:0000312|MGI:MGI:2444274};
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
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 TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=31571197; DOI=10.1111/cge.13644;
RA Zhang X., Shen Y., Wang X., Yuan G., Zhang C., Yang Y.;
RT "A novel homozygous CFAP65 mutation in humans causes male infertility with
RT multiple morphological abnormalities of the sperm flagella.";
RL Clin. Genet. 96:541-548(2019).
RN [4]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=31413122; DOI=10.1136/jmedgenet-2019-106031;
RA Wang W., Tu C., Nie H., Meng L., Li Y., Yuan S., Zhang Q., Du J., Wang J.,
RA Gong F., Fan L., Lu G.X., Lin G., Tan Y.Q.;
RT "Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to
RT acrosome hypoplasia and flagellum malformations.";
RL J. Med. Genet. 56:750-757(2019).
RN [5]
RP DISRUPTION PHENOTYPE, AND FUNCTION.
RX PubMed=31501240; DOI=10.1136/jmedgenet-2019-106344;
RA Li W., Wu H., Li F., Tian S., Kherraf Z.E., Zhang J., Ni X., Lv M., Liu C.,
RA Tan Q., Shen Y., Amiri-Yekta A., Cazin C., Zhang J., Liu W., Zheng Y.,
RA Cheng H., Wu Y., Wang J., Gao Y., Chen Y., Zha X., Jin L., Liu M., He X.,
RA Ray P.F., Cao Y., Zhang F.;
RT "Biallelic mutations in CFAP65 cause male infertility with multiple
RT morphological abnormalities of the sperm flagella in humans and mice.";
RL J. Med. Genet. 57:89-95(2020).
RN [6]
RP INTERACTION WITH CFAP47.
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:31501240}.
CC -!- SUBUNIT: Interacts with CFAP47. {ECO:0000269|PubMed:33472045}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000269|PubMed:31571197}; Single-pass membrane protein
CC {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, acrosome
CC membrane {ECO:0000250|UniProtKB:Q6ZU64}; Single-pass type I membrane
CC protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:31571197}.
CC Note=Expressed in the cytoplasm of the spermatogonia, round spermatids,
CC early elongating spermatids and late elongating spermatids and in the
CC flagella of epididymal spermatozoa. {ECO:0000269|PubMed:31571197}.
CC -!- TISSUE SPECIFICITY: Predominatly expressed in testis (PubMed:31571197).
CC Highly expressed in round and elongating spermatids (PubMed:31571197,
CC PubMed:31413122). Expressed also in certain ciliated organs, such as
CC the brain, lung and kidney (PubMed:31413122).
CC {ECO:0000269|PubMed:31413122, ECO:0000269|PubMed:31571197}.
CC -!- DEVELOPMENTAL STAGE: Begins to be significantly expressed at postnatal
CC day 15, reachs a peak at postnatal day 22 and then maintains stable
CC expression level. {ECO:0000269|PubMed:31413122,
CC ECO:0000269|PubMed:31571197}.
CC -!- DISRUPTION PHENOTYPE: Deficient male are infertile whereas female
CC mutants could give birth. Deficient male show severe morphological
CC abnormalities of the sperm flagella. The majority of spermatozoa
CC display absent or short flagella and the flagellar axoneme is
CC completely disorganised. {ECO:0000269|PubMed:31501240}.
CC -!- SIMILARITY: Belongs to the CFAP65 family. {ECO:0000305}.
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DR EMBL; AK133278; BAE21590.1; -; mRNA.
DR CCDS; CCDS15060.1; -.
DR RefSeq; NP_001034584.1; NM_001039495.1.
DR RefSeq; XP_006496053.1; XM_006495990.1.
DR AlphaFoldDB; Q3V0B4; -.
DR STRING; 10090.ENSMUSP00000092440; -.
DR iPTMnet; Q3V0B4; -.
DR PhosphoSitePlus; Q3V0B4; -.
DR MaxQB; Q3V0B4; -.
DR PaxDb; Q3V0B4; -.
DR PRIDE; Q3V0B4; -.
DR ProteomicsDB; 281392; -.
DR Antibodypedia; 34298; 43 antibodies from 10 providers.
DR Ensembl; ENSMUST00000094844; ENSMUSP00000092440; ENSMUSG00000047021.
DR GeneID; 241116; -.
DR KEGG; mmu:241116; -.
DR UCSC; uc007bnj.1; mouse.
DR CTD; 255101; -.
DR MGI; MGI:2444274; Cfap65.
DR VEuPathDB; HostDB:ENSMUSG00000047021; -.
DR eggNOG; ENOG502QSJW; Eukaryota.
DR GeneTree; ENSGT00430000031142; -.
DR HOGENOM; CLU_000944_1_0_1; -.
DR InParanoid; Q3V0B4; -.
DR OMA; ASFYSMD; -.
DR OrthoDB; 1127899at2759; -.
DR PhylomeDB; Q3V0B4; -.
DR TreeFam; TF329056; -.
DR BioGRID-ORCS; 241116; 1 hit in 76 CRISPR screens.
DR ChiTaRS; Ccdc108; mouse.
DR PRO; PR:Q3V0B4; -.
DR Proteomes; UP000000589; Chromosome 1.
DR RNAct; Q3V0B4; protein.
DR Bgee; ENSMUSG00000047021; Expressed in spermatocyte and 43 other tissues.
DR Genevisible; Q3V0B4; MM.
DR GO; GO:0002080; C:acrosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0001669; C:acrosomal vesicle; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-KW.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR Gene3D; 2.60.40.10; -; 10.
DR InterPro; IPR013783; Ig-like_fold.
PE 1: Evidence at protein level;
KW Cell membrane; Cell projection; Cilium; Cilium biogenesis/degradation;
KW Coiled coil; Cytoplasm; Cytoplasmic vesicle; Flagellum; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..1847
FT /note="Cilia- and flagella-associated protein 65"
FT /id="PRO_0000288806"
FT TRANSMEM 112..132
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 805..914
FT /note="MSP"
FT REGION 1668..1721
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1457..1483
FT /evidence="ECO:0000255"
FT COMPBIAS 1670..1687
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1688..1716
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1847 AA; 209134 MW; 755F08500CA9F879 CRC64;
MLIQKNQCHI TRTRENCDCT MNTVNEDLCL SASTLGSSSV TTQLVDPLDR KICLIRRQND
VKKRVIWGIE VAEKLHWKGW ELGKETTRTL VLKNLSLKTQ KMKYRPPKTK FFFTIIPQPI
FLSPGITLTL PIVFRPLEAK EYTDQLWFEK EEGVFCVTLK ATLPCYKLDC PSSLQLPMCA
LGDTVETWFC LNNVGDLPTF FTWEVPAPFQ ILPTTGLLEP GLGCKIKVTF EPLIAVIHEV
EALCWYGKGN KQKNSINIQA AAKCAQLLVS IKHKGLEDQD QEGFQKVVHF GYVSVGSVAE
RQIRLYNPSA VNAPFKIEMA EHVLTKDPSF SCSTSQGIVP PGEKKCLSLF FHPKTLDSRA
IDYFSIIPSG CATKTLLQVV GFCRGPDAVL QHSCVNFHWV KLGERREQTL WIENQSDCQA
HFQFDIDCQE SVFSIRPAFG TLAGKTRMTL HCAYQPTHPI ISFRRVACLI HHQDPLFLDL
IGTCHSDSIK PAILTPQHLT WYRTHLARGL TLYPPDILAA MLKEKKLERD EDGALILPIE
SLPMQELEDL PDQKYPNIPP MTEYFFDGTR DLAIFPPAVC LEPIDVDFGA CPGPEAPNPV
PLCLRNYTKG KITVVWTGRS DCPFWVTPVT SDVPPLKSIA LRLYFQPSSP NCLYAVELEA
FAVYKVLQCY SNIEEDCTVV PSWCLKVRAR GHSYSPALEH HIPHYSLDSP QTFPAVSPGK
PSYRSLFLVN KGSMLMTFSL APNSSSDITL RPSSGLIGPG AHQVFLISTY PKGTSWRQHI
FYLNFNFYPQ YLKEVSMQSR EEPLDLKLDT HKSIYFKPTW VGCSSTSNFT FHNPSRLPLQ
FEWRVSQEHQ KVLAVQPSKG TIHPNENLTL TWIFSPLEEI KYLFRVGIWV WEARQSQKTK
PQATVHYRIR LVGMGVTGCL SAKPVELDFG NVLVNSQEVK PLVLLNDGNC TLYYRLVLEQ
HRPKGLHSDP CALEFDHSEG TMPPHSQDTI YLTARPKVRS QYSWTISYCL LSQRAPPTNS
MDGKKKALCH VSLAAAYPLL SVLDICSMGS TEGITRKHLW HLFSLDTLNS YLARDPTAKE
LTYKVPTRHS MSRTPPIFTP LKLDFNFGAA PHNALPSVVL LVLKNCGLVP LDWAFLFPSD
QQLDLDLWVE QEDLNSNELH QMRAEDNSLF SINPKTGSLN PGQEQMVEFT YRHLFVGTDR
LSVLFKVSHG REILLQFIGV TVKLEQKYVH FTSTIHQFIP VPIGDTLPPR QIYELYNGGS
VPVTYEVQVS VLSKVQEKNF DHPIFCCLNP KGDIQPGTTA RILWIFSPIE AKTYTVEVPI
HIIGWNSAVV CFQGVGYDPC VMGDTAPFHS ISSWDSSSIS SRLMVPGQNV FLSQSHISLG
NIPVQSKCSR LFFLNNISKN ETIVFTWKPR SLDFGEVTVS PMEGEVGPEE GAPILVTLKA
SVHASFYSID LICKVYQREL MRQYHKELQE WNEEKARQEV EFTITDRKVK RRAYCAAHEP
PKKYKTLPPI TNQPPLNRPA TWNLKLAKKE TSWPCPQPPV PGLLCLGLTA RAHATDYYLA
NFFSEFPCHF LYRELPKKKS SKEESKSSEE LPDKKGPVSR QKQQLLVDCL TSIIRGLLED
KNFHNAVDQN LVEQVPYFCQ FWNEQSARFL AQKSSLYLVP ILSLPPSYEG RKSKEQEEDL
FGKMPGGQED DEEEEEDEEE AEEEEEEIEE EMSKDEEDID KDAKMTWSGI KVTETSQHSL
QWQWQQDLKT IIKEETESDE KEAIGRLPAF ANLQEAILEN MIQNILVEAS RGEVVLTSRP
RIIALPPVSM HRTDNLLQMS QGDVLCSGMQ HPDCLLVSAS SPSNMTT
