CFA69_MOUSE
ID CFA69_MOUSE Reviewed; 942 AA.
AC Q8BH53; Q3TPR3; Q8CA81; Q8CDU8;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Cilia- and flagella-associated protein 69 {ECO:0000312|MGI:MGI:2443778};
GN Name=Cfap69 {ECO:0000312|MGI:MGI:2443778};
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] (ISOFORMS 1; 2 AND 4), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-666 (ISOFORM 3).
RC STRAIN=C57BL/6J; TISSUE=Hippocampus, Spinal cord, and 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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=28495971; DOI=10.1523/jneurosci.0392-17.2017;
RA Talaga A.K., Dong F.N., Reisert J., Zhao H.;
RT "Cilia- and Flagella-Associated Protein 69 Regulates Olfactory Transduction
RT Kinetics in Mice.";
RL J. Neurosci. 37:5699-5710(2017).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE,
RP AND DISRUPTION PHENOTYPE.
RX PubMed=29606301; DOI=10.1016/j.ajhg.2018.03.007;
RA Dong F.N., Amiri-Yekta A., Martinez G., Saut A., Tek J., Stouvenel L.,
RA Lores P., Karaouzene T., Thierry-Mieg N., Satre V., Brouillet S.,
RA Daneshipour A., Hosseini S.H., Bonhivers M., Gourabi H., Dulioust E.,
RA Arnoult C., Toure A., Ray P.F., Zhao H., Coutton C.;
RT "Absence of CFAP69 Causes Male Infertility due to Multiple Morphological
RT Abnormalities of the Flagella in Human and Mouse.";
RL Am. J. Hum. Genet. 102:636-648(2018).
CC -!- FUNCTION: Cilium- and flagellum-associated protein (PubMed:28495971,
CC PubMed:29606301). In the olfactory epithelium, regulates the speed of
CC activation and termination of the odor response and thus contributes to
CC the robustness of olfactory transduction pathways (PubMed:28495971).
CC Required for sperm flagellum assembly and stability (PubMed:29606301).
CC {ECO:0000269|PubMed:28495971, ECO:0000269|PubMed:29606301}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000269|PubMed:28495971}. Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:29606301}. Note=Localizes to the midpiece of the
CC sperm flagellum. {ECO:0000269|PubMed:29606301}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8BH53-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8BH53-2; Sequence=VSP_031677, VSP_031679;
CC Name=3;
CC IsoId=Q8BH53-3; Sequence=VSP_031678, VSP_031680;
CC Name=4;
CC IsoId=Q8BH53-4; Sequence=VSP_031681, VSP_031682;
CC -!- TISSUE SPECIFICITY: Expressed in ciliated olfactory sensory neurons (at
CC protein level) (PubMed:28495971). Expressed in testis, specifically in
CC sperm (at protein level) (PubMed:29606301).
CC {ECO:0000269|PubMed:28495971, ECO:0000269|PubMed:29606301}.
CC -!- DEVELOPMENTAL STAGE: Detected in pachytene spermatocytes and has
CC increased expression in early and late spermatids.
CC {ECO:0000269|PubMed:29606301}.
CC -!- DISRUPTION PHENOTYPE: Male mice are infertile due to disrupted sperm
CC flagellum assembly. {ECO:0000269|PubMed:29606301}.
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DR EMBL; AK029545; BAC26507.1; -; mRNA.
DR EMBL; AK039313; BAC30315.1; -; mRNA.
DR EMBL; AK039388; BAC30334.1; -; mRNA.
DR EMBL; AK076835; BAC36499.1; -; mRNA.
DR EMBL; AK164190; BAE37672.1; -; mRNA.
DR EMBL; BC062906; AAH62906.1; -; mRNA.
DR CCDS; CCDS19075.1; -. [Q8BH53-1]
DR RefSeq; NP_766035.1; NM_172447.2. [Q8BH53-1]
DR RefSeq; XP_011238969.1; XM_011240667.2.
DR AlphaFoldDB; Q8BH53; -.
DR STRING; 10090.ENSMUSP00000053206; -.
DR PhosphoSitePlus; Q8BH53; -.
DR MaxQB; Q8BH53; -.
DR PaxDb; Q8BH53; -.
DR PRIDE; Q8BH53; -.
DR ProteomicsDB; 281541; -. [Q8BH53-1]
DR ProteomicsDB; 281542; -. [Q8BH53-2]
DR ProteomicsDB; 281543; -. [Q8BH53-3]
DR ProteomicsDB; 281544; -. [Q8BH53-4]
DR Antibodypedia; 67513; 67 antibodies from 16 providers.
DR DNASU; 207686; -.
DR Ensembl; ENSMUST00000054865; ENSMUSP00000053206; ENSMUSG00000040473. [Q8BH53-1]
DR Ensembl; ENSMUST00000135252; ENSMUSP00000117518; ENSMUSG00000040473. [Q8BH53-4]
DR GeneID; 207686; -.
DR KEGG; mmu:207686; -.
DR UCSC; uc008wiu.1; mouse. [Q8BH53-1]
DR UCSC; uc008wiv.1; mouse. [Q8BH53-4]
DR CTD; 79846; -.
DR MGI; MGI:2443778; Cfap69.
DR VEuPathDB; HostDB:ENSMUSG00000040473; -.
DR eggNOG; ENOG502QV2V; Eukaryota.
DR GeneTree; ENSGT00390000014274; -.
DR HOGENOM; CLU_322533_0_0_1; -.
DR InParanoid; Q8BH53; -.
DR OMA; MVQCYQN; -.
DR OrthoDB; 640213at2759; -.
DR PhylomeDB; Q8BH53; -.
DR TreeFam; TF328355; -.
DR BioGRID-ORCS; 207686; 3 hits in 73 CRISPR screens.
DR ChiTaRS; Cfap69; mouse.
DR PRO; PR:Q8BH53; -.
DR Proteomes; UP000000589; Chromosome 5.
DR RNAct; Q8BH53; protein.
DR Bgee; ENSMUSG00000040473; Expressed in spermatid and 182 other tissues.
DR ExpressionAtlas; Q8BH53; baseline and differential.
DR Genevisible; Q8BH53; MM.
DR GO; GO:1990718; C:axonemal central pair projection; ISO:MGI.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0097730; C:non-motile cilium; IMP:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:MGI.
DR GO; GO:0042048; P:olfactory behavior; IMP:UniProtKB.
DR GO; GO:1905516; P:positive regulation of fertilization; IDA:UniProtKB.
DR GO; GO:1902093; P:positive regulation of flagellated sperm motility; IDA:UniProtKB.
DR GO; GO:1990834; P:response to odorant; IMP:UniProtKB.
DR GO; GO:0007608; P:sensory perception of smell; IEA:UniProtKB-KW.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:MGI.
DR Gene3D; 1.25.10.10; -; 1.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Differentiation; Flagellum;
KW Olfaction; Reference proteome; Sensory transduction; Spermatogenesis.
FT CHAIN 1..942
FT /note="Cilia- and flagella-associated protein 69"
FT /evidence="ECO:0000305"
FT /id="PRO_0000320597"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..332
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_031677"
FT VAR_SEQ 330..386
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_031678"
FT VAR_SEQ 333..345
FT /note="FTRDLILFATFNE -> MIMFYCLLLPAVP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_031679"
FT VAR_SEQ 618..653
FT /note="ILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGK -> KLA (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_031680"
FT VAR_SEQ 621..627
FT /note="LNQKKFC -> VSNIHLL (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_031681"
FT VAR_SEQ 628..942
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_031682"
FT CONFLICT 611
FT /note="G -> R (in Ref. 1; BAC26507)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 942 AA; 106233 MW; 4B85FDDF837C266B CRC64;
MSTAEASATT ADAAEAGGRT KTGSPRTIPV FGVAIPDGEM QGIFKPMDLN RIIKVLEEED
KDVSEEKQLN YIKKLIHCYQ NGFPLRDLAQ IFKILSLCAE KIEKQPCFVE PASDIIKLCG
LPFLKKKVSD EITYTEDTAN SFALLGELMK IPSSALRIQI CKCIVDFYHA EPLKKHIPGY
QQVSSSYKIK MVEVGGLAKA MVQSALLLEN QLVEKLWVLK VLQHLSTSGV NCTLMVKAQA
ASGICAHLND PDPSGQLLFR SSEVLWNLLE KSSKEEIIQQ LSNLECLLAL KEVFKNLFVR
GHSHYERQLR NDILVITTII AQNPGAPMIE CGFTRDLILF ATFNEVKSQN PLVKSLKLFN
CYEDFELKKL LFNIIVILCK DLATVQLLID GKVILALFTY VKKPERLKIM EWSAAQYEEL
QLHAIATLSS VAPLLIEEYM SCHGNSRILA FLEWCGHEDS YFIHGNSFHG TGGRGNKFAQ
MRYTLRLLRA MVYLEDETVN KDLCERGVIH QLIEIFKTMM SRPAEKEEAI ALEIQSDTLL
ILSGLCENYI QRKEMFGTEG VDIVLHVMKT DPKNLQRGLG YNVLLFSTLD SIWCCILGCY
DSEDYFLEKE GIFLLLDILA LNQKKFCNLI LGIMVEFCDN PKTSAHVNAW RGKKDLTAAS
LLIKLWRKEE KELGVKRDRN GKIVDTKRPL FTSFQEEQKT MPLPANCPSI AVMDVAENIR
AKIYAVLDKL DFENLPGLSA EDFVTLCIIH RYFDFKIGEI WNEVSEEIKL EKLRLVTTDE
KSLNSIIAAT ENIGKMVASL QSEMIENQAL QDVQNEQRVY AKIQATHKQR EQANKSWENF
LARTSNAKTL KKAKKLQEKA IESSRYTERP QNATFHQTVI KGLNTTVPSG RVVTVQSTPT
RLLGGPLADT DIALKKLPIR GGALQRVKVK PPLNDPKKSI PT
