PCDP1_HUMAN
ID PCDP1_HUMAN Reviewed; 840 AA.
AC Q4G0U5; B4DEK0; B4E2T5;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JUN-2010, sequence version 2.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Cilia- and flagella-associated protein 221 {ECO:0000312|HGNC:HGNC:33720};
DE AltName: Full=Primary ciliary dyskinesia protein 1 {ECO:0000303|PubMed:18039845};
GN Name=CFAP221 {ECO:0000312|HGNC:HGNC:33720};
GN Synonyms=PCDP1 {ECO:0000303|PubMed:18039845};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), AND VARIANT
RP ILE-637.
RC TISSUE=Cerebellum, and Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ILE-637.
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).
CC -!- FUNCTION: May play a role in cilium morphogenesis.
CC {ECO:0000250|UniProtKB:A9Q751}.
CC -!- SUBUNIT: Interacts with calmodulin; calcium-dependent.
CC {ECO:0000250|UniProtKB:A9Q751}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:18039845}. Cytoplasm
CC {ECO:0000250|UniProtKB:A9Q751}. Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:A9Q751}. Note=Localizes to the manchette in
CC elongating spermatids in a SPAG17-dependent manner.
CC {ECO:0000250|UniProtKB:A9Q751}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q4G0U5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q4G0U5-2; Sequence=VSP_039316;
CC Name=3;
CC IsoId=Q4G0U5-3; Sequence=VSP_039317, VSP_039320, VSP_039321;
CC Name=4;
CC IsoId=Q4G0U5-4; Sequence=VSP_039319, VSP_039318;
CC -!- TISSUE SPECIFICITY: Expressed in ciliated respiratory epithelial cells
CC and brain ependymal cells (at protein level).
CC {ECO:0000269|PubMed:18039845}.
CC -!- SIMILARITY: Belongs to the PCDP1 family. {ECO:0000305}.
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DR EMBL; AK293665; BAG57111.1; -; mRNA.
DR EMBL; AK304416; BAG65247.1; -; mRNA.
DR EMBL; AC013275; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC069154; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104817; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036530; AAH36530.1; -; mRNA.
DR CCDS; CCDS33282.2; -. [Q4G0U5-1]
DR RefSeq; NP_001257978.1; NM_001271049.1. [Q4G0U5-1]
DR RefSeq; XP_006712416.1; XM_006712353.3. [Q4G0U5-1]
DR AlphaFoldDB; Q4G0U5; -.
DR STRING; 9606.ENSP00000393222; -.
DR GlyGen; Q4G0U5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q4G0U5; -.
DR PhosphoSitePlus; Q4G0U5; -.
DR BioMuta; CFAP221; -.
DR DMDM; 298286840; -.
DR jPOST; Q4G0U5; -.
DR MassIVE; Q4G0U5; -.
DR PaxDb; Q4G0U5; -.
DR PeptideAtlas; Q4G0U5; -.
DR PRIDE; Q4G0U5; -.
DR ProteomicsDB; 62129; -. [Q4G0U5-1]
DR ProteomicsDB; 62130; -. [Q4G0U5-2]
DR ProteomicsDB; 62131; -. [Q4G0U5-3]
DR ProteomicsDB; 62132; -. [Q4G0U5-4]
DR Antibodypedia; 48000; 54 antibodies from 10 providers.
DR DNASU; 200373; -.
DR Ensembl; ENST00000413369.8; ENSP00000393222.2; ENSG00000163075.13. [Q4G0U5-1]
DR Ensembl; ENST00000598644.5; ENSP00000472563.1; ENSG00000163075.13. [Q4G0U5-4]
DR GeneID; 200373; -.
DR KEGG; hsa:200373; -.
DR MANE-Select; ENST00000413369.8; ENSP00000393222.2; NM_001271049.2; NP_001257978.2.
DR UCSC; uc031rou.2; human. [Q4G0U5-1]
DR CTD; 200373; -.
DR DisGeNET; 200373; -.
DR GeneCards; CFAP221; -.
DR HGNC; HGNC:33720; CFAP221.
DR HPA; ENSG00000163075; Tissue enhanced (fallopian tube, testis).
DR MalaCards; CFAP221; -.
DR MIM; 618704; gene.
DR neXtProt; NX_Q4G0U5; -.
DR OpenTargets; ENSG00000163075; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR VEuPathDB; HostDB:ENSG00000163075; -.
DR eggNOG; ENOG502QT0T; Eukaryota.
DR GeneTree; ENSGT00390000006925; -.
DR HOGENOM; CLU_020964_0_0_1; -.
DR InParanoid; Q4G0U5; -.
DR OMA; KQDATPQ; -.
DR OrthoDB; 1411975at2759; -.
DR PhylomeDB; Q4G0U5; -.
DR PathwayCommons; Q4G0U5; -.
DR BioGRID-ORCS; 200373; 10 hits in 1020 CRISPR screens.
DR ChiTaRS; CFAP221; human.
DR GenomeRNAi; 200373; -.
DR Pharos; Q4G0U5; Tbio.
DR PRO; PR:Q4G0U5; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q4G0U5; protein.
DR Bgee; ENSG00000163075; Expressed in right uterine tube and 125 other tissues.
DR ExpressionAtlas; Q4G0U5; baseline and differential.
DR Genevisible; Q4G0U5; HS.
DR GO; GO:0097729; C:9+2 motile cilium; IBA:GO_Central.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0002177; C:manchette; ISS:UniProtKB.
DR GO; GO:0036126; C:sperm flagellum; IEA:Ensembl.
DR GO; GO:0005516; F:calmodulin binding; ISS:UniProtKB.
DR GO; GO:0090660; P:cerebrospinal fluid circulation; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0044458; P:motile cilium assembly; IBA:GO_Central.
DR GO; GO:0120197; P:mucociliary clearance; IEA:Ensembl.
DR GO; GO:0120316; P:sperm flagellum assembly; IEA:Ensembl.
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 Alternative splicing; Calmodulin-binding; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..840
FT /note="Cilia- and flagella-associated protein 221"
FT /id="PRO_0000320614"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 467..501
FT /note="Interaction with calmodulin"
FT /evidence="ECO:0000250|UniProtKB:A9Q751"
FT VAR_SEQ 1..286
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039316"
FT VAR_SEQ 1..156
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039317"
FT VAR_SEQ 177..187
FT /note="KTYVIPLQCSC -> LPNSVFLVPDN (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039319"
FT VAR_SEQ 188..840
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039318"
FT VAR_SEQ 659..678
FT /note="NPNPGLFAVMHPLTYAETLI -> VSDNWQKPCFLCSFISAITL (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039320"
FT VAR_SEQ 679..840
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039321"
FT VARIANT 637
FT /note="V -> I (in dbSNP:rs2272058)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039232"
FT VARIANT 795
FT /note="M -> I (in dbSNP:rs11686014)"
FT /id="VAR_039233"
FT CONFLICT 367
FT /note="D -> G (in Ref. 2; BAG57111)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 840 AA; 96891 MW; 7669C7FA1FFD22E5 CRC64;
MAVVKTPSRG LKNAKEPFNN ASPHLLKNLV EEPKKRKEVP NHLLESKVYA KLVNNKVIQA
RPGIIHFGGY QVEKQHQQIL HLVNVSNEDT RVHILPPQTK YFEINYVRKE HHLVPGLSLT
VTVTFSPDEW RYYYDCIRVH CKGDDTLLVP IHAYPVMNSL DFPSFINLSN VLLGESKTYV
IPLQCSCPVD FEFYITLIQS HQAFAIEPTS GIIPANGKMT VTIKFTPFQY GTAQIKMQLW
ISQFNSQPYE CVFTGTCYPN MALPLEEFER LNTLSKKVNV PPEKAMMHIN FHRPPAKPKP
QKVKEIEYQN LRFPVDLSNP FAVATVLNQE PGKLKIKELR EVLDQGTEIS KTRQMKEALF
EQKVRQDIHE EMENHLKWQV HLGKDPMSFK LKKELTEEWQ KACAKYKLDR GDPILDEEFQ
RLKTEVSHKR VVRNQEEKIK EFHPTFDPLI NNTWLSRSRA QKRFQQVARK VMIQGRLFNM
LSAVREMDKE SILRKIGQAK QSIAQEANFF KFFLRRISQD DYTSRFSVSP KEVLPFAFPD
CSPPQDSNEL APDGLGLVPI KSSEVQIKQS YSFFNLQVPQ LYKIKRYQPF SVHKSSTSYR
PQKLARALKQ GAEDEVTTIT ALPKQDSTTQ LSGKTSVLSM KPPEALAMSL DYDPLYVFNP
NPGLFAVMHP LTYAETLIDY HLCSHPKYKF TKESRHGSSI PVTQKQFLHH TDIIPGIMHW
KSFQSLVLSS LPDPSKMETT KSCDSFNSFM LPIDVPAILD ALPEEDRLET VERELCEQNV
EVMLTPEMIK VEFPMLNYKD IRKEKEVKDQ AQPAEKAGEK LLEEMRNLRG KALNTYLILE
