CF97D_MOUSE
ID CF97D_MOUSE Reviewed; 164 AA.
AC Q9DAN9;
DT 23-MAR-2010, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Sperm axonemal maintenance protein CFAP97D1 {ECO:0000305};
DE AltName: Full=CFAP97 domain-containing protein 1;
GN Name=Cfap97d1;
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 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [5]
RP FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=32785227; DOI=10.1371/journal.pgen.1008954;
RA Oura S., Kazi S., Savolainen A., Nozawa K., Castaneda J., Yu Z., Miyata H.,
RA Matzuk R.M., Hansen J.N., Wachten D., Matzuk M.M.,
RA Prunskaite-Hyyrylaeinen R.;
RT "Cfap97d1 is important for flagellar axoneme maintenance and male mouse
RT fertility.";
RL PLoS Genet. 16:e1008954-e1008954(2020).
CC -!- FUNCTION: Required for male fertility through its role in axonemal
CC doublet stabilization which is essential for sperm motility and
CC fertilization. {ECO:0000269|PubMed:32785227}.
CC -!- TISSUE SPECIFICITY: Expressed exclusively in testis.
CC {ECO:0000269|PubMed:32785227}.
CC -!- DEVELOPMENTAL STAGE: Expression starts at postnatal day 20 and
CC continues throughout adulthood. {ECO:0000269|PubMed:32785227}.
CC -!- DISRUPTION PHENOTYPE: Male subfertility. Sperm show an impaired ability
CC to penetrate the zona pellucida and abnormal motility characterized by
CC frequent stalling in the anti-hook position with the flagellum and hook
CC of the sperm head pointing in opposite directions. Sperm flagella lack
CC outer microtubule doublet 4 in 63% of mutants while doublet 7 is
CC missing in 14.8% of mutants. A small number of mutants have multiple
CC doublets missing but these are relatively rare: the 4th and 7th
CC doublets are missing in 1.6% of mutants; the 4th, 5th and 7th doublets
CC are missing in 3.7%; the 4th, 5th and 6th doublets are missing in
CC 1.23%; and the 4th, 5th, 6th and 7th doublets are missing in 1.23%.
CC {ECO:0000269|PubMed:32785227}.
CC -!- SIMILARITY: Belongs to the CFAP97 family. {ECO:0000305}.
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DR EMBL; AK005669; BAB24178.1; -; mRNA.
DR EMBL; AL591145; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466558; EDL34076.1; -; Genomic_DNA.
DR EMBL; BC116819; AAI16820.1; -; mRNA.
DR EMBL; BC116821; AAI16822.1; -; mRNA.
DR CCDS; CCDS48938.1; -.
DR RefSeq; NP_083563.1; NM_029287.1.
DR AlphaFoldDB; Q9DAN9; -.
DR STRING; 10090.ENSMUSP00000010985; -.
DR iPTMnet; Q9DAN9; -.
DR PhosphoSitePlus; Q9DAN9; -.
DR EPD; Q9DAN9; -.
DR PaxDb; Q9DAN9; -.
DR PRIDE; Q9DAN9; -.
DR Antibodypedia; 29596; 15 antibodies from 10 providers.
DR Ensembl; ENSMUST00000010985; ENSMUSP00000010985; ENSMUSG00000010841.
DR GeneID; 75437; -.
DR KEGG; mmu:75437; -.
DR UCSC; uc007lqb.2; mouse.
DR CTD; 284067; -.
DR MGI; MGI:1922687; Cfap97d1.
DR VEuPathDB; HostDB:ENSMUSG00000010841; -.
DR eggNOG; ENOG502S44E; Eukaryota.
DR GeneTree; ENSGT00390000018148; -.
DR HOGENOM; CLU_097298_2_0_1; -.
DR InParanoid; Q9DAN9; -.
DR OMA; HKNRVQI; -.
DR OrthoDB; 1518257at2759; -.
DR PhylomeDB; Q9DAN9; -.
DR TreeFam; TF325279; -.
DR BioGRID-ORCS; 75437; 5 hits in 72 CRISPR screens.
DR PRO; PR:Q9DAN9; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q9DAN9; protein.
DR Bgee; ENSMUSG00000010841; Expressed in seminiferous tubule of testis and 28 other tissues.
DR ExpressionAtlas; Q9DAN9; baseline and differential.
DR Genevisible; Q9DAN9; MM.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR InterPro; IPR038792; CFAP97D1/2.
DR InterPro; IPR029488; Hmw/CFAP97.
DR PANTHER; PTHR33768; PTHR33768; 1.
DR Pfam; PF13879; Hmw_CFAP97; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Reference proteome.
FT CHAIN 1..164
FT /note="Sperm axonemal maintenance protein CFAP97D1"
FT /id="PRO_0000392550"
FT COILED 61..88
FT /evidence="ECO:0000255"
SQ SEQUENCE 164 AA; 19775 MW; EC5236AEB236BDE0 CRC64;
MNNSLDYLAY PVIVSNHRQS TTFRKKLDFG HYILHKNRVQ IVKPAVDTKP PMAHTHYILK
LSKIQGEQKR IDKIEYENRQ LCQKIANAYR GPAKVDCWNE YLSKSLNRES RNRELVRITM
ENQGILRRLS DRKPNYDRRS SEMDWQNSRR YIRNTTRYLL FQED
