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A2IDD5 (CCD78_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 57. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 78
Alternative name(s):
hsCCDC78
Gene names
Name:CCDC78
Synonyms:C16orf25
ORF Names:JFP10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length438 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome. Ref.8

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Cytoplasmperinuclear region. Cell membranesarcolemma. Sarcoplasmic reticulum. Note: Localizes to centrioles and deuterosome. Found primarily in the perinuclear region as well as along the sarcolemmal membrane and in reticular pattern within the sarcoplasm. Ref.7 Ref.8

Tissue specificity

Expressed primarily in skeletal muscle. Ref.7

Involvement in disease

Myopathy, centronuclear, 4 (CNM4) [MIM:614807]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the CCDC78 family.

Sequence caution

The sequence AAK61249.1 differs from that shown. Reason: Erroneous gene model prediction.

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A2IDD5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: A2IDD5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     188-438: Missing.
Isoform 3 (identifier: A2IDD5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     165-273: LQGEVKWALE...APATTALRTF → VSVQPPSSGE...PGSDWPHRLW
     274-438: Missing.
Note: Due to intron retention.
Isoform 4 (identifier: A2IDD5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     165-257: LQGEVKWALE...QHCAWQAVEH → VSVQPPSSGE...LPRPAPSGRG
     258-438: Missing.
Note: Due to intron retention.
Isoform 5 (identifier: A2IDD5-5)

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: N → NVSPLGLAAP...PGEWVAVPPQ
     165-273: LQGEVKWALE...APATTALRTF → VSVQPPSSGE...PGSDWPHRLW
     274-438: Missing.
Note: Due to intron retention.
Isoform 6 (identifier: A2IDD5-6)

The sequence of this isoform differs from the canonical sequence as follows:
     134-144: Missing.
     165-273: LQGEVKWALE...APATTALRTF → VSVQPPSSGE...PGSDWPHRLW
     274-438: Missing.
Note: Due to intron retention.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 438438Coiled-coil domain-containing protein 78
PRO_0000291841

Regions

Coiled coil74 – 10532 Potential
Coiled coil217 – 24630 Potential

Natural variations

Alternative sequence201N → NVSPLGLAAPAMGLKSARSP KGQEGAGSCTLGLISARRGT FTAQPGREAGLVTAWEWGHS PAWDPPGEWVAVPPQ in isoform 5.
VSP_026252
Alternative sequence134 – 14411Missing in isoform 6.
VSP_026253
Alternative sequence165 – 273109LQGEV…ALRTF → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACVSGHLTW GPILEQREPLIVGLLSLTPV SSGQPWAGSCREPERRPGQP GSDWPHRLW in isoform 3, isoform 5 and isoform 6.
VSP_026254
Alternative sequence165 – 25793LQGEV…QAVEH → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACGNPGPAA AGSPRGGQGSRAATGHTGCG AVQLPRPAPSGRG in isoform 4.
VSP_026255
Alternative sequence188 – 438251Missing in isoform 2.
VSP_026256
Alternative sequence258 – 438181Missing in isoform 4.
VSP_026257
Alternative sequence274 – 438165Missing in isoform 3, isoform 5 and isoform 6.
VSP_026258
Natural variant2521W → R. Ref.6
Corresponds to variant rs2071950 [ dbSNP | Ensembl ].
VAR_032867

Experimental info

Sequence conflict681I → T in AAR13900. Ref.2
Sequence conflict1531N → D in BAC87488. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 20, 2007. Version 1.
Checksum: C178BF32086E2560

FASTA43848,521
        10         20         30         40         50         60 
MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD LALNKEQQLQ 

        70         80         90        100        110        120 
ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL ELRGDGTSQG CAVPVESDPR 

       130        140        150        160        170        180 
HPRAAAQELR HKAQVPGHSD DHRFQVQPKN TMNPENEQHR LGSGLQGEVK WALEHQEARQ 

       190        200        210        220        230        240 
QALVTRVATL GRQLQGAREE ARAAGQRLAT QAVVLCSCQG QLRQAEAENA RLQLQLKKLK 

       250        260        270        280        290        300 
DEYVLRLQHC AWQAVEHADG AGQAPATTAL RTFLEATLED IRAAHRSREQ QLARAARSYH 

       310        320        330        340        350        360 
KRLVDLSRRH EELLVAYRAP GNPQAIFDIA SLDLEPLPVP LVTDFSHRED QHGGPGALLS 

       370        380        390        400        410        420 
SPKKRPGGAS QGGTSEPQGL DAASWAQIHQ KLRDFSRSTQ SWNGSGHSCW SGPRWLKSNF 

       430 
LSYRSTWTST WAGTSTKS 

« Hide

Isoform 2 [UniParc].

Checksum: 13375CC87D8032C6
Show »

FASTA18720,887
Isoform 3 [UniParc].

Checksum: 94C38D2CF465E9F8
Show »

FASTA27329,120
Isoform 4 [UniParc].

Checksum: 33562B7C07665F3D
Show »

FASTA25726,532
Isoform 5 [UniParc].

Checksum: C0CCE9BC4AE3B52B
Show »

FASTA34736,680
Isoform 6 [UniParc].

Checksum: 1C9E6F74AEA7131D
Show »

FASTA26227,844

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 5).
Tissue: Lung and Trachea.
[2]Li H., Zheng G., Zhong G., Ke R., Zhou G., Shen C., Lin L., Yang S.
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
[3]"Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4), VARIANT ARG-252.
Tissue: Brain and Lung.
[7]"Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores."
Majczenko K., Davidson A.E., Camelo-Piragua S., Agrawal P.B., Manfready R.A., Li X., Joshi S., Xu J., Peng W., Beggs A.H., Li J.Z., Burmeister M., Dowling J.J.
Am. J. Hum. Genet. 91:365-371(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN CNM4.
[8]"Deuterosome-mediated centriole biogenesis."
Klos Dehring D.A., Vladar E.K., Werner M.E., Mitchell J.W., Hwang P., Mitchell B.J.
Dev. Cell 27:103-112(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK091831 mRNA. Translation: BAC03757.1.
AK128538 mRNA. Translation: BAC87488.1.
AK298111 mRNA. Translation: BAG60396.1.
AK303991 mRNA. Translation: BAG64908.1.
AY439221 mRNA. Translation: AAR13900.1.
AE006464 Genomic DNA. Translation: AAK61249.1. Sequence problems.
Z98258 Genomic DNA. Translation: CAM26479.1.
CH471112 Genomic DNA. Translation: EAW85742.1.
BC027941 mRNA. No translation available.
BC031561 mRNA. No translation available.
BC042110 mRNA. Translation: AAH42110.1.
RefSeqNP_001026907.2. NM_001031737.2.
XP_005255163.1. XM_005255106.2.
UniGeneHs.381943.

3D structure databases

ProteinModelPortalA2IDD5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActA2IDD5. 1 interaction.

Proteomic databases

PaxDbA2IDD5.
PRIDEA2IDD5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000293889; ENSP00000293889; ENSG00000162004. [A2IDD5-1]
GeneID124093.
KEGGhsa:124093.
UCSCuc002cjg.3. human. [A2IDD5-1]
uc002cji.3. human. [A2IDD5-5]
uc002cjj.3. human. [A2IDD5-6]
uc010uuo.1. human. [A2IDD5-4]

Organism-specific databases

CTD124093.
GeneCardsGC16M000772.
HGNCHGNC:14153. CCDC78.
HPAHPA041186.
HPA041384.
MIM614666. gene.
614807. phenotype.
neXtProtNX_A2IDD5.
Orphanet319160. Congenital myopathy with internal nuclei and atypical cores.
PharmGKBPA25539.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG77695.
InParanoidA2IDD5.
OMASCWSGPR.
PhylomeDBA2IDD5.
TreeFamTF336362.

Gene expression databases

ArrayExpressA2IDD5.
BgeeA2IDD5.
CleanExHS_CCDC78.
GenevestigatorA2IDD5.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi124093.
NextBio81224.
PROA2IDD5.
SOURCESearch...

Entry information

Entry nameCCD78_HUMAN
AccessionPrimary (citable) accession number: A2IDD5
Secondary accession number(s): B4DNY4 expand/collapse secondary AC list , B4E1U6, Q05BY7, Q05CA0, Q6T2V5, Q6ZR33, Q8IUR3, Q8NAY7, Q96S12
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: February 20, 2007
Last modified: April 16, 2014
This is version 57 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM