CCD42_MOUSE
ID CCD42_MOUSE Reviewed; 316 AA.
AC Q5SV66; B9EHU2; Q8BNY1;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-NOV-2009, sequence version 2.
DT 03-AUG-2022, entry version 98.
DE RecName: Full=Coiled-coil domain-containing protein 42 {ECO:0000305};
GN Name=Ccdc42 {ECO:0000312|MGI:MGI:3045254};
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] (ISOFORM 2).
RC STRAIN=C57BL/6J; TISSUE=Aorta, and Vein;
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 MRNA] (ISOFORM 2).
RC 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 [4]
RP FUNCTION, TISSUE SPECIFICITY, AND DISRUPTION PHENOTYPE.
RX PubMed=26945718; DOI=10.1016/j.ydbio.2016.01.042;
RA Pasek R.C., Malarkey E., Berbari N.F., Sharma N., Kesterson R.A.,
RA Tres L.L., Kierszenbaum A.L., Yoder B.K.;
RT "Coiled-coil domain containing 42 (Ccdc42) is necessary for proper sperm
RT development and male fertility in the mouse.";
RL Dev. Biol. 412:208-218(2016).
CC -!- FUNCTION: Required for sperm development.
CC {ECO:0000269|PubMed:26945718}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5SV66-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5SV66-2; Sequence=VSP_018334, VSP_018335;
CC -!- TISSUE SPECIFICITY: Only expressed in the brain and developing sperm.
CC Expression in the testes appears at approximately ten days of age and
CC is maintained into adulthood, corresponding with the onset of meiosis.
CC Expression in the testes appears limited to adluminal spermatids that
CC are engaged in the assembly of flagella. Strong expression is observed
CC in the spermatids within the lumen of the seminiferous tubules in
CC testes from 8-week-old mice, but not in cells adjacent to the basement
CC membrane of the tubule, including Sertoli cells, spermatogonia and
CC spermatocytes. Not expressed in ovaries. {ECO:0000269|PubMed:26945718}.
CC -!- DISRUPTION PHENOTYPE: Mice develop normally without obvious somatic
CC defects but males are sterile due to malformation of the sperm
CC flagella. Sperm cells display defects in the number and location of the
CC head-tail coupling apparatus and lack flagellated sperm.
CC {ECO:0000269|PubMed:26945718}.
CC -!- SIMILARITY: Belongs to the CFAP73 family. {ECO:0000305}.
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DR EMBL; AK079909; BAC37781.1; -; mRNA.
DR EMBL; AL645644; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX001016; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC138437; AAI38438.1; -; mRNA.
DR EMBL; BC138438; AAI38439.1; -; mRNA.
DR CCDS; CCDS24868.2; -. [Q5SV66-1]
DR RefSeq; NP_808447.2; NM_177779.3. [Q5SV66-1]
DR AlphaFoldDB; Q5SV66; -.
DR SMR; Q5SV66; -.
DR BioGRID; 234908; 1.
DR STRING; 10090.ENSMUSP00000114381; -.
DR iPTMnet; Q5SV66; -.
DR PhosphoSitePlus; Q5SV66; -.
DR PaxDb; Q5SV66; -.
DR PRIDE; Q5SV66; -.
DR ProteomicsDB; 265709; -. [Q5SV66-1]
DR ProteomicsDB; 265710; -. [Q5SV66-2]
DR Antibodypedia; 12628; 140 antibodies from 18 providers.
DR Ensembl; ENSMUST00000102612; ENSMUSP00000099672; ENSMUSG00000045915. [Q5SV66-2]
DR Ensembl; ENSMUST00000154294; ENSMUSP00000114381; ENSMUSG00000045915. [Q5SV66-1]
DR GeneID; 276920; -.
DR KEGG; mmu:276920; -.
DR UCSC; uc007jnw.2; mouse. [Q5SV66-2]
DR UCSC; uc011xwr.1; mouse. [Q5SV66-1]
DR CTD; 146849; -.
DR MGI; MGI:3045254; Ccdc42.
DR VEuPathDB; HostDB:ENSMUSG00000045915; -.
DR eggNOG; ENOG502QRZS; Eukaryota.
DR GeneTree; ENSGT00940000153110; -.
DR HOGENOM; CLU_061472_1_0_1; -.
DR InParanoid; Q5SV66; -.
DR OMA; QYYKFIQ; -.
DR OrthoDB; 1528754at2759; -.
DR PhylomeDB; Q5SV66; -.
DR TreeFam; TF327270; -.
DR BioGRID-ORCS; 276920; 4 hits in 72 CRISPR screens.
DR ChiTaRS; Ccdc42; mouse.
DR PRO; PR:Q5SV66; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q5SV66; protein.
DR Bgee; ENSMUSG00000045915; Expressed in testis and 37 other tissues.
DR ExpressionAtlas; Q5SV66; baseline and differential.
DR GO; GO:0007286; P:spermatid development; IMP:UniProtKB.
DR InterPro; IPR025252; DUF4200.
DR Pfam; PF13863; DUF4200; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..316
FT /note="Coiled-coil domain-containing protein 42"
FT /id="PRO_0000234499"
FT COILED 43..150
FT /evidence="ECO:0000255"
FT COILED 182..236
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..163
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_018334"
FT VAR_SEQ 164
FT /note="E -> MALGSQLFSDPSPLIPQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_018335"
SQ SEQUENCE 316 AA; 37989 MW; 3B76C2DF325E779D CRC64;
MSLGMMEEED LAEYFRLQYG ERLLQLLQKF PNVEEQSDSP SIQLLEKKKE AKIMQEAMEH
KKEAFQRRME TLNLRWEELG IKEEQLKAHI QKFEQFIQEN DQKRIRALKK ANKERELKRL
RLRELAKAKQ EMMALRLEHQ KLSVKLQDYA IFNKYLEKVV ENSEFEEIHE VIARYKTLVS
MHHDLMQSAQ EGQEKIERAK ARLARYMEEK DDEILQHNNE LARLQMRFDR ARSDVIFWES
RWAHIQNTAA KKTLLLGTIK MATLNLFQIV SKQLKESTQV SLEDTHKQLD MIQQFIQDLS
DIWTEVKKKE QQQVRM
