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   24-JAN-2024, entry version 119.
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};
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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; 9606-ENSP00000293889; -.
DR   PeptideAtlas; 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; 27 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   AGR; HGNC:14153; -.
DR   CTD; 124093; -.
DR   DisGeNET; 124093; -.
DR   GeneCards; CCDC78; -.
DR   HGNC; HGNC:14153; CCDC78.
DR   HPA; ENSG00000162004; Tissue enhanced (brain, fallopian tube).
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; 2906282at2759; -.
DR   PhylomeDB; A2IDD5; -.
DR   TreeFam; TF336362; -.
DR   PathwayCommons; A2IDD5; -.
DR   SignaLink; A2IDD5; -.
DR   BioGRID-ORCS; 124093; 91 hits in 1158 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 111 other cell types or tissues.
DR   ExpressionAtlas; A2IDD5; baseline and differential.
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; COILED-COIL DOMAIN-CONTAINING PROTEIN 78; 1.
DR   PANTHER; PTHR22106:SF5; COILED-COIL DOMAIN-CONTAINING PROTEIN 78; 1.
DR   Pfam; PF14739; DUF4472; 1.
DR   Genevisible; A2IDD5; HS.
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
//