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A2IDD5

- CCD78_HUMAN

UniProt

A2IDD5 - CCD78_HUMAN

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Protein
Coiled-coil domain-containing protein 78
Gene
CCDC78, C16orf25, JFP10
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

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.1 Publication

GO - Biological processi

  1. cell projection organization Source: UniProtKB-KW
  2. de novo centriole assembly Source: UniProtKB
  3. skeletal muscle contraction Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 78
Alternative name(s):
hsCCDC78
Gene namesi
Name:CCDC78
Synonyms:C16orf25
ORF Names:JFP10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:14153. CCDC78.

Subcellular locationi

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.2 Publications

GO - Cellular componenti

  1. centriole Source: UniProtKB
  2. deuterosome Source: UniProtKB
  3. perinuclear region of cytoplasm Source: UniProtKB
  4. sarcolemma Source: UniProtKB
  5. sarcoplasmic reticulum Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Organism-specific databases

MIMi614807. phenotype.
Orphaneti319160. Congenital myopathy with internal nuclei and atypical cores.
PharmGKBiPA25539.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 438438Coiled-coil domain-containing protein 78
PRO_0000291841Add
BLAST

Proteomic databases

PaxDbiA2IDD5.
PRIDEiA2IDD5.

Expressioni

Tissue specificityi

Expressed primarily in skeletal muscle.1 Publication

Gene expression databases

ArrayExpressiA2IDD5.
BgeeiA2IDD5.
CleanExiHS_CCDC78.
GenevestigatoriA2IDD5.

Organism-specific databases

HPAiHPA041186.
HPA041384.

Interactioni

Protein-protein interaction databases

IntActiA2IDD5. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliA2IDD5.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili74 – 10532 Reviewed prediction
Add
BLAST
Coiled coili217 – 24630 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the CCDC78 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG77695.
InParanoidiA2IDD5.
OMAiSCWSGPR.
PhylomeDBiA2IDD5.
TreeFamiTF336362.

Family and domain databases

InterProiIPR029329. DUF4472.
[Graphical view]
PfamiPF14739. DUF4472. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: A2IDD5-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD    50
LALNKEQQLQ ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL 100
ELRGDGTSQG CAVPVESDPR HPRAAAQELR HKAQVPGHSD DHRFQVQPKN 150
TMNPENEQHR LGSGLQGEVK WALEHQEARQ QALVTRVATL GRQLQGAREE 200
ARAAGQRLAT QAVVLCSCQG QLRQAEAENA RLQLQLKKLK DEYVLRLQHC 250
AWQAVEHADG AGQAPATTAL RTFLEATLED IRAAHRSREQ QLARAARSYH 300
KRLVDLSRRH EELLVAYRAP GNPQAIFDIA SLDLEPLPVP LVTDFSHRED 350
QHGGPGALLS SPKKRPGGAS QGGTSEPQGL DAASWAQIHQ KLRDFSRSTQ 400
SWNGSGHSCW SGPRWLKSNF LSYRSTWTST WAGTSTKS 438
Length:438
Mass (Da):48,521
Last modified:February 20, 2007 - v1
Checksum:iC178BF32086E2560
GO
Isoform 2 (identifier: A2IDD5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     188-438: Missing.

Show »
Length:187
Mass (Da):20,887
Checksum:i13375CC87D8032C6
GO
Isoform 3 (identifier: A2IDD5-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:273
Mass (Da):29,120
Checksum:i94C38D2CF465E9F8
GO
Isoform 4 (identifier: A2IDD5-4) [UniParc]FASTAAdd to Basket

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.

Show »
Length:257
Mass (Da):26,532
Checksum:i33562B7C07665F3D
GO
Isoform 5 (identifier: A2IDD5-5) [UniParc]FASTAAdd to Basket

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.

Show »
Length:347
Mass (Da):36,680
Checksum:iC0CCE9BC4AE3B52B
GO
Isoform 6 (identifier: A2IDD5-6) [UniParc]FASTAAdd to Basket

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.

Show »
Length:262
Mass (Da):27,844
Checksum:i1C9E6F74AEA7131D
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti252 – 2521W → R.1 Publication
Corresponds to variant rs2071950 [ dbSNP | Ensembl ].
VAR_032867

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei20 – 201N → NVSPLGLAAPAMGLKSARSP KGQEGAGSCTLGLISARRGT FTAQPGREAGLVTAWEWGHS PAWDPPGEWVAVPPQ in isoform 5.
VSP_026252
Alternative sequencei134 – 14411Missing in isoform 6.
VSP_026253Add
BLAST
Alternative sequencei165 – 273109LQGEV…ALRTF → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACVSGHLTW GPILEQREPLIVGLLSLTPV SSGQPWAGSCREPERRPGQP GSDWPHRLW in isoform 3, isoform 5 and isoform 6.
VSP_026254Add
BLAST
Alternative sequencei165 – 25793LQGEV…QAVEH → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACGNPGPAA AGSPRGGQGSRAATGHTGCG AVQLPRPAPSGRG in isoform 4.
VSP_026255Add
BLAST
Alternative sequencei188 – 438251Missing in isoform 2.
VSP_026256Add
BLAST
Alternative sequencei258 – 438181Missing in isoform 4.
VSP_026257Add
BLAST
Alternative sequencei274 – 438165Missing in isoform 3, isoform 5 and isoform 6.
VSP_026258Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti68 – 681I → T in AAR13900. 1 Publication
Sequence conflicti153 – 1531N → D in BAC87488. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS32353.1. [A2IDD5-1]
RefSeqiNP_001026907.2. NM_001031737.2. [A2IDD5-1]
XP_005255163.1. XM_005255106.2. [A2IDD5-6]
UniGeneiHs.381943.

Genome annotation databases

EnsembliENST00000293889; ENSP00000293889; ENSG00000162004. [A2IDD5-1]
GeneIDi124093.
KEGGihsa:124093.
UCSCiuc002cjg.3. human. [A2IDD5-1]
uc002cji.3. human. [A2IDD5-5]
uc002cjj.3. human. [A2IDD5-6]
uc010uuo.1. human. [A2IDD5-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS32353.1. [A2IDD5-1 ]
RefSeqi NP_001026907.2. NM_001031737.2. [A2IDD5-1 ]
XP_005255163.1. XM_005255106.2. [A2IDD5-6 ]
UniGenei Hs.381943.

3D structure databases

ProteinModelPortali A2IDD5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi A2IDD5. 1 interaction.

Proteomic databases

PaxDbi A2IDD5.
PRIDEi A2IDD5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000293889 ; ENSP00000293889 ; ENSG00000162004 . [A2IDD5-1 ]
GeneIDi 124093.
KEGGi hsa:124093.
UCSCi uc002cjg.3. human. [A2IDD5-1 ]
uc002cji.3. human. [A2IDD5-5 ]
uc002cjj.3. human. [A2IDD5-6 ]
uc010uuo.1. human. [A2IDD5-4 ]

Organism-specific databases

CTDi 124093.
GeneCardsi GC16M000772.
HGNCi HGNC:14153. CCDC78.
HPAi HPA041186.
HPA041384.
MIMi 614666. gene.
614807. phenotype.
neXtProti NX_A2IDD5.
Orphaneti 319160. Congenital myopathy with internal nuclei and atypical cores.
PharmGKBi PA25539.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG77695.
InParanoidi A2IDD5.
OMAi SCWSGPR.
PhylomeDBi A2IDD5.
TreeFami TF336362.

Miscellaneous databases

GenomeRNAii 124093.
NextBioi 81224.
PROi A2IDD5.
SOURCEi Search...

Gene expression databases

ArrayExpressi A2IDD5.
Bgeei A2IDD5.
CleanExi HS_CCDC78.
Genevestigatori A2IDD5.

Family and domain databases

InterProi IPR029329. DUF4472.
[Graphical view ]
Pfami PF14739. DUF4472. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiCCD78_HUMAN
AccessioniPrimary (citable) accession number: A2IDD5
Secondary accession number(s): B4DNY4
, B4E1U6, Q05BY7, Q05CA0, Q6T2V5, Q6ZR33, Q8IUR3, Q8NAY7, Q96S12
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: February 20, 2007
Last modified: July 9, 2014
This is version 60 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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