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Cilia- and flagella-associated protein 221 (Primary ciliary dyskinesia protein 1)

 PCDP1_MOUSE             Reviewed;         836 AA.
A9Q751;
15-JUN-2010, integrated into UniProtKB/Swiss-Prot.
05-FEB-2008, sequence version 1.
31-JAN-2018, entry version 63.
RecName: Full=Cilia- and flagella-associated protein 221 {ECO:0000312|MGI:MGI:2684947};
AltName: Full=Primary ciliary dyskinesia protein 1 {ECO:0000303|PubMed:18039845};
Name=Cfap221 {ECO:0000312|MGI:MGI:2684947};
Synonyms=Gm101 {ECO:0000312|MGI:MGI:2684947},
Pcdp1 {ECO:0000303|PubMed:18039845};
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DISRUPTION PHENOTYPE, TISSUE
SPECIFICITY, AND SUBCELLULAR LOCATION.
STRAIN=C57BL/6J x 129S6/SvEvTac; TISSUE=Testis;
PubMed=18039845; DOI=10.1128/MCB.00354-07;
Lee L., Campagna D.R., Pinkus J.L., Mulhern H., Wyatt T.A.,
Sisson J.H., Pavlik J.A., Pinkus G.S., Fleming M.D.;
"Primary ciliary dyskinesia in mice lacking the novel ciliary protein
Pcdp1.";
Mol. Cell. Biol. 28:949-957(2008).
[2]
TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
PubMed=15613475; DOI=10.1074/jbc.M412444200;
Hong S., Choi I., Woo J.M., Oh J., Kim T., Choi E., Kim T.W.,
Jung Y.K., Kim D.H., Sun C.H., Yi G.S., Eddy E.M., Cho C.;
"Identification and integrative analysis of 28 novel genes
specifically expressed and developmentally regulated in murine
spermatogenic cells.";
J. Biol. Chem. 280:7685-7693(2005).
[3]
CALMODULIN-BINDING, AND REGION.
PubMed=20421426; DOI=10.1083/jcb.200912009;
DiPetrillo C.G., Smith E.F.;
"Pcdp1 is a central apparatus protein that binds Ca2+-calmodulin and
regulates ciliary motility.";
J. Cell Biol. 189:601-612(2010).
-!- FUNCTION: May play a role in cilium morphogenesis.
{ECO:0000305|PubMed:18039845}.
-!- SUBUNIT: Interacts with calmodulin; calcium-dependent.
{ECO:0000269|PubMed:20421426}.
-!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
{ECO:0000269|PubMed:18039845}. Cytoplasm
{ECO:0000269|PubMed:18039845}.
-!- TISSUE SPECIFICITY: Expressed in testis, specifically in
developing spermatocytes and spermatids but not in immature
spermatogonia. Expressed in the ciliated respiratory epithelial
cells lining the sinuses, trachea and bronchi (at protein level).
{ECO:0000269|PubMed:15613475, ECO:0000269|PubMed:18039845}.
-!- DEVELOPMENTAL STAGE: Expression in testis starts at P20.
{ECO:0000269|PubMed:15613475}.
-!- DISRUPTION PHENOTYPE: Mice lacking Pcdp1 have several phenotypes
associated with primary ciliary diskinesia, including
hydrocephalus, male infertility and respiratory abnormalities.
Hydrocephalus is observed on the B6 background but not on the 129
background. Male infertility is observed on both backgrounds and
is due to an absence of mature spermatozoa in the seminiferous
tubules. {ECO:0000269|PubMed:18039845}.
-!- SIMILARITY: Belongs to the PCDP1 family. {ECO:0000305}.
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EMBL; EF632061; ABR25260.1; -; mRNA.
CCDS; CCDS48340.1; -.
RefSeq; NP_001108546.1; NM_001115074.1.
RefSeq; XP_011246281.1; XM_011247979.2.
RefSeq; XP_017175371.1; XM_017319882.1.
RefSeq; XP_017175374.1; XM_017319885.1.
UniGene; Mm.297290; -.
ProteinModelPortal; A9Q751; -.
SMR; A9Q751; -.
STRING; 10090.ENSMUSP00000037703; -.
iPTMnet; A9Q751; -.
PhosphoSitePlus; A9Q751; -.
PaxDb; A9Q751; -.
PRIDE; A9Q751; -.
Ensembl; ENSMUST00000037840; ENSMUSP00000037703; ENSMUSG00000036962.
Ensembl; ENSMUST00000174370; ENSMUSP00000134576; ENSMUSG00000036962.
GeneID; 226356; -.
KEGG; mmu:226356; -.
UCSC; uc011wqu.1; mouse.
CTD; 200373; -.
MGI; MGI:2684947; Cfap221.
eggNOG; ENOG410IF29; Eukaryota.
eggNOG; ENOG4110M8G; LUCA.
GeneTree; ENSGT00390000006925; -.
HOGENOM; HOG000169731; -.
InParanoid; A9Q751; -.
OMA; HPKYKFT; -.
OrthoDB; EOG091G0BLW; -.
PhylomeDB; A9Q751; -.
TreeFam; TF328807; -.
PRO; PR:A9Q751; -.
Proteomes; UP000000589; Chromosome 1.
Bgee; ENSMUSG00000036962; -.
ExpressionAtlas; A9Q751; baseline and differential.
Genevisible; A9Q751; MM.
GO; GO:0005930; C:axoneme; ISS:UniProtKB.
GO; GO:0005929; C:cilium; IDA:MGI.
GO; GO:0005516; F:calmodulin binding; IDA:UniProtKB.
GO; GO:0003341; P:cilium movement; IMP:MGI.
GO; GO:0044458; P:motile cilium assembly; IMP:MGI.
Gene3D; 2.60.40.10; -; 2.
InterPro; IPR029676; Gm101.
InterPro; IPR013783; Ig-like_fold.
PANTHER; PTHR23053:SF30; PTHR23053:SF30; 1.
1: Evidence at protein level;
Calmodulin-binding; Cell projection; Cilium;
Cilium biogenesis/degradation; Complete proteome; Cytoplasm;
Cytoskeleton; Reference proteome.
CHAIN 1 836 Cilia- and flagella-associated protein
221.
/FTId=PRO_0000395000.
REGION 466 500 Interaction with calmodulin.
{ECO:0000269|PubMed:20421426}.
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


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