PCDP1_MOUSE
ID PCDP1_MOUSE Reviewed; 836 AA.
AC A9Q751;
DT 15-JUN-2010, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 1.
DT 03-AUG-2022, entry version 83.
DE RecName: Full=Cilia- and flagella-associated protein 221 {ECO:0000312|MGI:MGI:2684947};
DE AltName: Full=Primary ciliary dyskinesia protein 1 {ECO:0000303|PubMed:18039845};
GN Name=Cfap221 {ECO:0000312|MGI:MGI:2684947};
GN Synonyms=Gm101 {ECO:0000312|MGI:MGI:2684947},
GN Pcdp1 {ECO:0000303|PubMed:18039845};
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 [MRNA], FUNCTION, DISRUPTION PHENOTYPE, TISSUE
RP SPECIFICITY, AND SUBCELLULAR LOCATION.
RC STRAIN=C57BL/6J x 129S6/SvEvTac; TISSUE=Testis;
RX PubMed=18039845; DOI=10.1128/mcb.00354-07;
RA Lee L., Campagna D.R., Pinkus J.L., Mulhern H., Wyatt T.A., Sisson J.H.,
RA Pavlik J.A., Pinkus G.S., Fleming M.D.;
RT "Primary ciliary dyskinesia in mice lacking the novel ciliary protein
RT Pcdp1.";
RL Mol. Cell. Biol. 28:949-957(2008).
RN [2]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=15613475; DOI=10.1074/jbc.m412444200;
RA Hong S., Choi I., Woo J.M., Oh J., Kim T., Choi E., Kim T.W., Jung Y.K.,
RA Kim D.H., Sun C.H., Yi G.S., Eddy E.M., Cho C.;
RT "Identification and integrative analysis of 28 novel genes specifically
RT expressed and developmentally regulated in murine spermatogenic cells.";
RL J. Biol. Chem. 280:7685-7693(2005).
RN [3]
RP CALMODULIN-BINDING, AND REGION.
RX PubMed=20421426; DOI=10.1083/jcb.200912009;
RA DiPetrillo C.G., Smith E.F.;
RT "Pcdp1 is a central apparatus protein that binds Ca2+-calmodulin and
RT regulates ciliary motility.";
RL J. Cell Biol. 189:601-612(2010).
RN [4]
RP SUBCELLULAR LOCATION.
RX PubMed=29690537; DOI=10.3390/ijms19041252;
RA Kazarian E., Son H., Sapao P., Li W., Zhang Z., Strauss J.F., Teves M.E.;
RT "SPAG17 Is Required for Male Germ Cell Differentiation and Fertility.";
RL Int. J. Mol. Sci. 19:0-0(2018).
CC -!- FUNCTION: May play a role in cilium morphogenesis.
CC {ECO:0000305|PubMed:18039845}.
CC -!- SUBUNIT: Interacts with calmodulin; calcium-dependent.
CC {ECO:0000269|PubMed:20421426}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:18039845}. Cytoplasm {ECO:0000269|PubMed:18039845,
CC ECO:0000269|PubMed:29690537}. Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:29690537}. Note=Localizes to the manchette in
CC elongating spermatids in a SPAG17-dependent manner.
CC {ECO:0000269|PubMed:29690537}.
CC -!- TISSUE SPECIFICITY: Expressed in testis, specifically in developing
CC spermatocytes and spermatids but not in immature spermatogonia.
CC Expressed in the ciliated respiratory epithelial cells lining the
CC sinuses, trachea and bronchi (at protein level).
CC {ECO:0000269|PubMed:15613475, ECO:0000269|PubMed:18039845}.
CC -!- DEVELOPMENTAL STAGE: Expression in testis starts at P20.
CC {ECO:0000269|PubMed:15613475}.
CC -!- DISRUPTION PHENOTYPE: Mice lacking Pcdp1 have several phenotypes
CC associated with primary ciliary diskinesia, including hydrocephalus,
CC male infertility and respiratory abnormalities. Hydrocephalus is
CC observed on the B6 background but not on the 129 background. Male
CC infertility is observed on both backgrounds and is due to an absence of
CC mature spermatozoa in the seminiferous tubules.
CC {ECO:0000269|PubMed:18039845}.
CC -!- SIMILARITY: Belongs to the PCDP1 family. {ECO:0000305}.
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DR EMBL; EF632061; ABR25260.1; -; mRNA.
DR CCDS; CCDS48340.1; -.
DR RefSeq; NP_001108546.1; NM_001115074.1.
DR RefSeq; XP_011246281.1; XM_011247979.2.
DR RefSeq; XP_017175371.1; XM_017319882.1.
DR RefSeq; XP_017175374.1; XM_017319885.1.
DR AlphaFoldDB; A9Q751; -.
DR STRING; 10090.ENSMUSP00000134576; -.
DR iPTMnet; A9Q751; -.
DR PhosphoSitePlus; A9Q751; -.
DR PaxDb; A9Q751; -.
DR PRIDE; A9Q751; -.
DR ProteomicsDB; 289326; -.
DR Antibodypedia; 48000; 54 antibodies from 10 providers.
DR Ensembl; ENSMUST00000037840; ENSMUSP00000037703; ENSMUSG00000036962.
DR Ensembl; ENSMUST00000174370; ENSMUSP00000134576; ENSMUSG00000036962.
DR GeneID; 226356; -.
DR KEGG; mmu:226356; -.
DR UCSC; uc011wqu.1; mouse.
DR CTD; 200373; -.
DR MGI; MGI:2684947; Cfap221.
DR VEuPathDB; HostDB:ENSMUSG00000036962; -.
DR eggNOG; ENOG502QT0T; Eukaryota.
DR GeneTree; ENSGT00390000006925; -.
DR HOGENOM; CLU_020964_0_0_1; -.
DR InParanoid; A9Q751; -.
DR OMA; KQDATPQ; -.
DR OrthoDB; 1411975at2759; -.
DR PhylomeDB; A9Q751; -.
DR TreeFam; TF328807; -.
DR BioGRID-ORCS; 226356; 0 hits in 64 CRISPR screens.
DR ChiTaRS; Cfap221; mouse.
DR PRO; PR:A9Q751; -.
DR Proteomes; UP000000589; Chromosome 1.
DR RNAct; A9Q751; protein.
DR Bgee; ENSMUSG00000036962; Expressed in seminiferous tubule of testis and 22 other tissues.
DR ExpressionAtlas; A9Q751; baseline and differential.
DR Genevisible; A9Q751; MM.
DR GO; GO:0097729; C:9+2 motile cilium; IDA:MGI.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0002177; C:manchette; IDA:UniProtKB.
DR GO; GO:0036126; C:sperm flagellum; IDA:MGI.
DR GO; GO:0005516; F:calmodulin binding; IDA:UniProtKB.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IMP:MGI.
DR GO; GO:0051649; P:establishment of localization in cell; IMP:MGI.
DR GO; GO:0044458; P:motile cilium assembly; IBA:GO_Central.
DR GO; GO:0120197; P:mucociliary clearance; IMP:MGI.
DR GO; GO:0120316; P:sperm flagellum assembly; IMP:MGI.
DR Gene3D; 2.60.40.10; -; 2.
DR InterPro; IPR029676; Gm101.
DR InterPro; IPR013783; Ig-like_fold.
DR PANTHER; PTHR46500; PTHR46500; 1.
PE 1: Evidence at protein level;
KW Calmodulin-binding; Cell projection; Cilium; Cilium biogenesis/degradation;
KW Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..836
FT /note="Cilia- and flagella-associated protein 221"
FT /id="PRO_0000395000"
FT REGION 466..500
FT /note="Interaction with calmodulin"
FT /evidence="ECO:0000269|PubMed:20421426"
SQ SEQUENCE 836 AA; 96956 MW; 6004B7C39449600F CRC64;
MEVVKSPMQE LQQAKEPFDT MSPLLLKSLV EEPKKRTEVP NHLLESRVYA KLLNNKVIQA
RPGIVHFGGY EIESKHQQIL NIANISDEDT HLHILPPQTK YFQINFEKKE HRLIPGLSLT
VTITFSPDEW RYYYDCIRIH CKGDDTLLVP IHAYPVLNNL DFPTFINLSD VFLGESKSYV
IPLQCSCPVD FEFHITLLRS HQAFTIEPKS GIIPANGKAK VTVKFTPIQY GMAQIKIQLW
ISQFNSQPYE CVFTGTCYPN MALPLEEFKR LNTRSKKVNV PLEKTTYVQF YPAPAKAKPQ
KLKEIDYQDL RFPADLSNPF AVATVLNQEP GKLKIKELKQ VLDQGDEISK TRQMKEAIFE
QKVRQDILTE IENHLKWQVH LGKEHTTYRF KRELTEEWKK ARAKYKQNRG DPVEGEELQR
LQTEQSQKRI VRDLKGKRQE FHPNFDPLVN NVWLTRHRAQ RRFQQAARKI MLERRLLSML
GAIRGMDKES ILRKIIQVNG KLIQGENPSR GRRAHLKQED NIWRYSLESE EVLHFAFPTD
SESYNELALD GLGLVPIKSP EIQIKHSYPY FTLKVPQLYK IKGYHPFSVN KSSTNYRLQK
LARPLKHGAE DEVTTIITIP KKDTTPLSAK PSILSMKPPE GLAMSVEYDP LYIFNPSPGL
FAVKHPLTYA ETLIDYHLCS HPKYKYTQES HMGSSIPLTQ RQFLHHTDII PGIMNWKKFQ
PLVFSSMSDP SMVEATQRSD WYSSVMLPID VPAPLEDLPE EDRLETTERD LCDQGIEVML
TPEMVQVEFP MLIHRDSKKE KDFKDSTQLP EKVGERVQEE MKNLRSKALN TYLILD
