CCD78_HUMAN
ID CCD78_HUMAN Reviewed; 438 AA.
AC A2IDD5; B4DNY4; B4E1U6; Q05BY7; Q05CA0; Q6T2V5; Q6ZR33; Q8IUR3; Q8NAY7;
AC Q96S12;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Coiled-coil domain-containing protein 78;
DE AltName: Full=hsCCDC78;
GN Name=CCDC78; Synonyms=C16orf25; ORFNames=JFP10;
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 [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 5).
RC TISSUE=Lung, 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
RA Li H., Zheng G., Zhong G., Ke R., Zhou G., Shen C., Lin L., Yang S.;
RL Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4), AND VARIANT
RP ARG-252.
RC TISSUE=Brain, and Lung;
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 [7]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INVOLVEMENT IN CNM4.
RX PubMed=22818856; DOI=10.1016/j.ajhg.2012.06.012;
RA Majczenko K., Davidson A.E., Camelo-Piragua S., Agrawal P.B.,
RA Manfready R.A., Li X., Joshi S., Xu J., Peng W., Beggs A.H., Li J.Z.,
RA Burmeister M., Dowling J.J.;
RT "Dominant mutation of ccdc78 in a unique congenital myopathy with prominent
RT internal nuclei and atypical cores.";
RL Am. J. Hum. Genet. 91:365-371(2012).
RN [8]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=24075808; DOI=10.1016/j.devcel.2013.08.021;
RA Klos Dehring D.A., Vladar E.K., Werner M.E., Mitchell J.W., Hwang P.,
RA Mitchell B.J.;
RT "Deuterosome-mediated centriole biogenesis.";
RL Dev. Cell 27:103-112(2013).
CC -!- FUNCTION: Component of the deuterosome, a structure that promotes de
CC novo centriole amplification in multiciliated cells that can generate
CC more than 100 centrioles. Deuterosome-mediated centriole amplification
CC occurs in terminally differentiated multiciliated cells (G1/0) and not
CC in S phase. Essential for centriole amplification and is required for
CC CEP152 localization to the deuterosome. {ECO:0000269|PubMed:24075808}.
CC -!- INTERACTION:
CC A2IDD5-4; Q0VD86: INCA1; NbExp=3; IntAct=EBI-18205352, EBI-6509505;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome, centriole. Cytoplasm, perinuclear region. Cell
CC membrane, sarcolemma. Sarcoplasmic reticulum. Note=Localizes to
CC centrioles and deuterosome. Found primarily in the perinuclear region
CC as well as along the sarcolemmal membrane and in reticular pattern
CC within the sarcoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=A2IDD5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A2IDD5-2; Sequence=VSP_026256;
CC Name=3;
CC IsoId=A2IDD5-3; Sequence=VSP_026254, VSP_026258;
CC Name=4;
CC IsoId=A2IDD5-4; Sequence=VSP_026255, VSP_026257;
CC Name=5;
CC IsoId=A2IDD5-5; Sequence=VSP_026252, VSP_026254, VSP_026258;
CC Name=6;
CC IsoId=A2IDD5-6; Sequence=VSP_026253, VSP_026254, VSP_026258;
CC -!- TISSUE SPECIFICITY: Expressed primarily in skeletal muscle.
CC {ECO:0000269|PubMed:22818856}.
CC -!- DISEASE: Myopathy, centronuclear, 4 (CNM4) [MIM:614807]: A congenital
CC muscle disorder characterized by progressive muscular weakness and
CC wasting involving mainly limb girdle, trunk, and neck muscles. It may
CC also affect distal muscles. Weakness may be present during childhood or
CC adolescence or may not become evident until the third decade of life.
CC Ptosis is a frequent clinical feature. The most prominent
CC histopathologic features include high frequency of centrally located
CC nuclei in muscle fibers not secondary to regeneration, radial
CC arrangement of sarcoplasmic strands around the central nuclei, and
CC predominance and hypotrophy of type 1 fibers.
CC {ECO:0000269|PubMed:22818856}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 3]: Due to intron retention. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 4]: Due to intron retention. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 5]: Due to intron retention. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 6]: Due to intron retention. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the CCDC78 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK61249.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK091831; BAC03757.1; -; mRNA.
DR EMBL; AK128538; BAC87488.1; -; mRNA.
DR EMBL; AK298111; BAG60396.1; -; mRNA.
DR EMBL; AK303991; BAG64908.1; -; mRNA.
DR EMBL; AY439221; AAR13900.1; -; mRNA.
DR EMBL; AE006464; AAK61249.1; ALT_SEQ; Genomic_DNA.
DR EMBL; Z98258; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471112; EAW85742.1; -; Genomic_DNA.
DR EMBL; BC027941; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC031561; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC042110; AAH42110.1; -; mRNA.
DR CCDS; CCDS32353.1; -. [A2IDD5-1]
DR RefSeq; NP_001026907.2; NM_001031737.2. [A2IDD5-1]
DR AlphaFoldDB; A2IDD5; -.
DR SMR; A2IDD5; -.
DR BioGRID; 125849; 14.
DR IntAct; A2IDD5; 3.
DR STRING; 9606.ENSP00000293889; -.
DR iPTMnet; A2IDD5; -.
DR PhosphoSitePlus; A2IDD5; -.
DR BioMuta; CCDC78; -.
DR MassIVE; A2IDD5; -.
DR PaxDb; A2IDD5; -.
DR PeptideAtlas; A2IDD5; -.
DR PRIDE; A2IDD5; -.
DR ProteomicsDB; 450; -. [A2IDD5-1]
DR ProteomicsDB; 451; -. [A2IDD5-2]
DR ProteomicsDB; 452; -. [A2IDD5-3]
DR ProteomicsDB; 453; -. [A2IDD5-4]
DR ProteomicsDB; 454; -. [A2IDD5-5]
DR ProteomicsDB; 455; -. [A2IDD5-6]
DR Antibodypedia; 22861; 25 antibodies from 13 providers.
DR DNASU; 124093; -.
DR Ensembl; ENST00000293889.10; ENSP00000293889.6; ENSG00000162004.19. [A2IDD5-1]
DR GeneID; 124093; -.
DR KEGG; hsa:124093; -.
DR UCSC; uc002cjg.3; human. [A2IDD5-1]
DR CTD; 124093; -.
DR DisGeNET; 124093; -.
DR GeneCards; CCDC78; -.
DR HGNC; HGNC:14153; CCDC78.
DR HPA; ENSG00000162004; Tissue enriched (fallopian).
DR MalaCards; CCDC78; -.
DR MIM; 614666; gene.
DR MIM; 614807; phenotype.
DR neXtProt; NX_A2IDD5; -.
DR OpenTargets; ENSG00000162004; -.
DR Orphanet; 319160; Congenital myopathy with internal nuclei and atypical cores.
DR PharmGKB; PA25539; -.
DR VEuPathDB; HostDB:ENSG00000162004; -.
DR eggNOG; ENOG502SNR6; Eukaryota.
DR GeneTree; ENSGT00390000013678; -.
DR HOGENOM; CLU_032909_0_0_1; -.
DR InParanoid; A2IDD5; -.
DR OrthoDB; 773737at2759; -.
DR PhylomeDB; A2IDD5; -.
DR TreeFam; TF336362; -.
DR PathwayCommons; A2IDD5; -.
DR SignaLink; A2IDD5; -.
DR BioGRID-ORCS; 124093; 88 hits in 1080 CRISPR screens.
DR ChiTaRS; CCDC78; human.
DR GenomeRNAi; 124093; -.
DR Pharos; A2IDD5; Tbio.
DR PRO; PR:A2IDD5; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; A2IDD5; protein.
DR Bgee; ENSG00000162004; Expressed in right uterine tube and 110 other tissues.
DR ExpressionAtlas; A2IDD5; baseline and differential.
DR Genevisible; A2IDD5; HS.
DR GO; GO:0005814; C:centriole; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0098536; C:deuterosome; IDA:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR GO; GO:0042383; C:sarcolemma; IDA:UniProtKB.
DR GO; GO:0016529; C:sarcoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0030030; P:cell projection organization; IEA:UniProtKB-KW.
DR GO; GO:0098535; P:de novo centriole assembly involved in multi-ciliated epithelial cell differentiation; IDA:UniProtKB.
DR GO; GO:0003009; P:skeletal muscle contraction; IMP:UniProtKB.
DR InterPro; IPR039873; CCDC78.
DR InterPro; IPR029329; DUF4472.
DR PANTHER; PTHR22106; PTHR22106; 2.
DR Pfam; PF14739; DUF4472; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cilium biogenesis/degradation;
KW Coiled coil; Cytoplasm; Cytoskeleton; Membrane; Reference proteome;
KW Sarcoplasmic reticulum.
FT CHAIN 1..438
FT /note="Coiled-coil domain-containing protein 78"
FT /id="PRO_0000291841"
FT REGION 345..381
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 74..105
FT /evidence="ECO:0000255"
FT COILED 217..246
FT /evidence="ECO:0000255"
FT COMPBIAS 367..381
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 20
FT /note="N -> NVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGR
FT EAGLVTAWEWGHSPAWDPPGEWVAVPPQ (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026252"
FT VAR_SEQ 134..144
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_026253"
FT VAR_SEQ 165..273
FT /note="LQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLC
FT SCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTF
FT -> VSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVSG
FT HLTWGPILEQREPLIVGLLSLTPVSSGQPWAGSCREPERRPGQPGSDWPHRLW (in
FT isoform 3, isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_026254"
FT VAR_SEQ 165..257
FT /note="LQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLC
FT SCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEH -> VSVQPPSSGERAAP
FT ETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACGNPGPAAAGSPRGGQGSRAA
FT TGHTGCGAVQLPRPAPSGRG (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_026255"
FT VAR_SEQ 188..438
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_026256"
FT VAR_SEQ 258..438
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_026257"
FT VAR_SEQ 274..438
FT /note="Missing (in isoform 3, isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_026258"
FT VARIANT 252
FT /note="W -> R (in dbSNP:rs2071950)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_032867"
FT CONFLICT 68
FT /note="I -> T (in Ref. 2; AAR13900)"
FT /evidence="ECO:0000305"
FT CONFLICT 153
FT /note="N -> D (in Ref. 1; BAC87488)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 438 AA; 48521 MW; C178BF32086E2560 CRC64;
MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD LALNKEQQLQ
ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL ELRGDGTSQG CAVPVESDPR
HPRAAAQELR HKAQVPGHSD DHRFQVQPKN TMNPENEQHR LGSGLQGEVK WALEHQEARQ
QALVTRVATL GRQLQGAREE ARAAGQRLAT QAVVLCSCQG QLRQAEAENA RLQLQLKKLK
DEYVLRLQHC AWQAVEHADG AGQAPATTAL RTFLEATLED IRAAHRSREQ QLARAARSYH
KRLVDLSRRH EELLVAYRAP GNPQAIFDIA SLDLEPLPVP LVTDFSHRED QHGGPGALLS
SPKKRPGGAS QGGTSEPQGL DAASWAQIHQ KLRDFSRSTQ SWNGSGHSCW SGPRWLKSNF
LSYRSTWTST WAGTSTKS
