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Protein

Coiled-coil domain-containing protein 78

Gene

CCDC78

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • cell projection organization Source: UniProtKB-KW
  • de novo centriole assembly involved in multi-ciliated epithelial cell differentiation Source: UniProtKB
  • skeletal muscle contraction Source: UniProtKB

Keywordsi

Biological processCilium 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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000162004.16
HGNCiHGNC:14153 CCDC78
MIMi614666 gene
neXtProtiNX_A2IDD5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Myopathy, centronuclear, 4 (CNM4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614807

Organism-specific databases

DisGeNETi124093
MalaCardsiCCDC78
MIMi614807 phenotype
OpenTargetsiENSG00000162004
Orphaneti319160 Congenital myopathy with internal nuclei and atypical cores
PharmGKBiPA25539

Polymorphism and mutation databases

BioMutaiCCDC78

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002918411 – 438Coiled-coil domain-containing protein 78Add BLAST438

Proteomic databases

PaxDbiA2IDD5
PRIDEiA2IDD5
ProteomicsDBi450
451 [A2IDD5-2]
452 [A2IDD5-3]
453 [A2IDD5-4]
454 [A2IDD5-5]
455 [A2IDD5-6]

PTM databases

iPTMnetiA2IDD5
PhosphoSitePlusiA2IDD5

Expressioni

Tissue specificityi

Expressed primarily in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000162004 Expressed in 125 organ(s), highest expression level in right uterine tube
CleanExiHS_CCDC78
ExpressionAtlasiA2IDD5 baseline and differential
GenevisibleiA2IDD5 HS

Interactioni

Protein-protein interaction databases

BioGridi125849, 3 interactors
IntActiA2IDD5, 2 interactors
STRINGi9606.ENSP00000293889

Structurei

3D structure databases

ProteinModelPortaliA2IDD5
SMRiA2IDD5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili74 – 105Sequence analysisAdd BLAST32
Coiled coili217 – 246Sequence analysisAdd BLAST30

Sequence similaritiesi

Belongs to the CCDC78 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IG0Z Eukaryota
ENOG410Z48M LUCA
GeneTreeiENSGT00390000013678
InParanoidiA2IDD5
OMAiHLGRYKQ
OrthoDBiEOG091G0H5Z
PhylomeDBiA2IDD5
TreeFamiTF336362

Family and domain databases

InterProiView protein in InterPro
IPR039873 CCDC78
IPR029329 DUF4472
PANTHERiPTHR22106 PTHR22106, 1 hit
PfamiView protein in Pfam
PF14739 DUF4472, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD
60 70 80 90 100
LALNKEQQLQ ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL
110 120 130 140 150
ELRGDGTSQG CAVPVESDPR HPRAAAQELR HKAQVPGHSD DHRFQVQPKN
160 170 180 190 200
TMNPENEQHR LGSGLQGEVK WALEHQEARQ QALVTRVATL GRQLQGAREE
210 220 230 240 250
ARAAGQRLAT QAVVLCSCQG QLRQAEAENA RLQLQLKKLK DEYVLRLQHC
260 270 280 290 300
AWQAVEHADG AGQAPATTAL RTFLEATLED IRAAHRSREQ QLARAARSYH
310 320 330 340 350
KRLVDLSRRH EELLVAYRAP GNPQAIFDIA SLDLEPLPVP LVTDFSHRED
360 370 380 390 400
QHGGPGALLS SPKKRPGGAS QGGTSEPQGL DAASWAQIHQ KLRDFSRSTQ
410 420 430
SWNGSGHSCW SGPRWLKSNF LSYRSTWTST WAGTSTKS
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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BLT8H3BLT8_HUMAN
Coiled-coil domain-containing prote...
CCDC78
319Annotation score:
I3L158I3L158_HUMAN
Coiled-coil domain-containing prote...
CCDC78
56Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti68I → T in AAR13900 (Ref. 2) Curated1
Sequence conflicti153N → D in BAC87488 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032867252W → R1 PublicationCorresponds to variant dbSNP:rs2071950EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02625220N → NVSPLGLAAPAMGLKSARSP KGQEGAGSCTLGLISARRGT FTAQPGREAGLVTAWEWGHS PAWDPPGEWVAVPPQ in isoform 5. 1 Publication1
Alternative sequenceiVSP_026253134 – 144Missing in isoform 6. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_026254165 – 273LQGEV…ALRTF → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACVSGHLTW GPILEQREPLIVGLLSLTPV SSGQPWAGSCREPERRPGQP GSDWPHRLW in isoform 3, isoform 5 and isoform 6. 2 PublicationsAdd BLAST109
Alternative sequenceiVSP_026255165 – 257LQGEV…QAVEH → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACGNPGPAA AGSPRGGQGSRAATGHTGCG AVQLPRPAPSGRG in isoform 4. 2 PublicationsAdd BLAST93
Alternative sequenceiVSP_026256188 – 438Missing in isoform 2. 2 PublicationsAdd BLAST251
Alternative sequenceiVSP_026257258 – 438Missing in isoform 4. 2 PublicationsAdd BLAST181
Alternative sequenceiVSP_026258274 – 438Missing in isoform 3, isoform 5 and isoform 6. 2 PublicationsAdd BLAST165

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 No translation available.
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]
UniGeneiHs.381943

Genome annotation databases

EnsembliENST00000293889; ENSP00000293889; ENSG00000162004 [A2IDD5-1]
GeneIDi124093
KEGGihsa:124093
UCSCiuc002cjg.3 human [A2IDD5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 No translation available.
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]
UniGeneiHs.381943

3D structure databases

ProteinModelPortaliA2IDD5
SMRiA2IDD5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125849, 3 interactors
IntActiA2IDD5, 2 interactors
STRINGi9606.ENSP00000293889

PTM databases

iPTMnetiA2IDD5
PhosphoSitePlusiA2IDD5

Polymorphism and mutation databases

BioMutaiCCDC78

Proteomic databases

PaxDbiA2IDD5
PRIDEiA2IDD5
ProteomicsDBi450
451 [A2IDD5-2]
452 [A2IDD5-3]
453 [A2IDD5-4]
454 [A2IDD5-5]
455 [A2IDD5-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000293889; ENSP00000293889; ENSG00000162004 [A2IDD5-1]
GeneIDi124093
KEGGihsa:124093
UCSCiuc002cjg.3 human [A2IDD5-1]

Organism-specific databases

CTDi124093
DisGeNETi124093
EuPathDBiHostDB:ENSG00000162004.16
GeneCardsiCCDC78
HGNCiHGNC:14153 CCDC78
MalaCardsiCCDC78
MIMi614666 gene
614807 phenotype
neXtProtiNX_A2IDD5
OpenTargetsiENSG00000162004
Orphaneti319160 Congenital myopathy with internal nuclei and atypical cores
PharmGKBiPA25539
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG0Z Eukaryota
ENOG410Z48M LUCA
GeneTreeiENSGT00390000013678
InParanoidiA2IDD5
OMAiHLGRYKQ
OrthoDBiEOG091G0H5Z
PhylomeDBiA2IDD5
TreeFamiTF336362

Miscellaneous databases

ChiTaRSiCCDC78 human
GenomeRNAii124093
PROiPR:A2IDD5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162004 Expressed in 125 organ(s), highest expression level in right uterine tube
CleanExiHS_CCDC78
ExpressionAtlasiA2IDD5 baseline and differential
GenevisibleiA2IDD5 HS

Family and domain databases

InterProiView protein in InterPro
IPR039873 CCDC78
IPR029329 DUF4472
PANTHERiPTHR22106 PTHR22106, 1 hit
PfamiView protein in Pfam
PF14739 DUF4472, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCCD78_HUMAN
AccessioniPrimary (citable) accession number: A2IDD5
Secondary accession number(s): B4DNY4
, B4E1U6, Q05BY7, Q05CA0, Q6T2V5, Q6ZR33, Q8IUR3, Q8NAY7, Q96S12
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: February 20, 2007
Last modified: November 7, 2018
This is version 91 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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