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Protein

Coiled-coil domain-containing protein 8

Gene

CCDC8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695).2 Publications

GO - Biological processi

  • microtubule cytoskeleton organization Source: UniProtKB
  • negative regulation of phosphatase activity Source: UniProtKB
  • post-translational protein modification Source: Reactome
  • regulation of mitotic nuclear division Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 8
Gene namesi
Name:CCDC8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000169515.5
HGNCiHGNC:25367 CCDC8
MIMi614145 gene
neXtProtiNX_Q9H0W5

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

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

3M syndrome 3 (3M3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels.
See also OMIM:614205

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi503P → A: Decreased interaction with ANKRA2. 1 Publication1
Mutagenesisi504T → A: Decreased interaction with ANKRA2. 1 Publication1

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNETi83987
GeneReviewsiCCDC8
MalaCardsiCCDC8
MIMi614205 phenotype
OpenTargetsiENSG00000169515
Orphaneti2616 3M syndrome
PharmGKBiPA134931534

Polymorphism and mutation databases

BioMutaiCCDC8
DMDMi116241287

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894011 – 538Coiled-coil domain-containing protein 8Add BLAST538

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei142PhosphoserineCombined sources1
Modified residuei146PhosphoserineCombined sources1
Modified residuei261PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H0W5
MaxQBiQ9H0W5
PaxDbiQ9H0W5
PeptideAtlasiQ9H0W5
PRIDEiQ9H0W5
ProteomicsDBi80331

PTM databases

CarbonylDBiQ9H0W5
iPTMnetiQ9H0W5
PhosphoSitePlusiQ9H0W5

Expressioni

Tissue specificityi

Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver.1 Publication

Gene expression databases

BgeeiENSG00000169515
CleanExiHS_CCDC8
GenevisibleiQ9H0W5 HS

Organism-specific databases

HPAiHPA041993

Interactioni

Subunit structurei

Component of the 3M complex, composed of core components CUL7, CCDC8 and OBSL1 (PubMed:21737058, PubMed:24793695). Interacts (via PxLPxI/L motif) with ANKRA2 (via ankyrin repeats); may link the 3M complex to histone deacetylases including HDAC4 and HDAC5 (PubMed:25752541).3 Publications

Protein-protein interaction databases

BioGridi123838, 557 interactors
CORUMiQ9H0W5
DIPiDIP-60183N
ELMiQ9H0W5
IntActiQ9H0W5, 10 interactors
MINTiQ9H0W5
STRINGi9606.ENSP00000303158

Structurei

3D structure databases

ProteinModelPortaliQ9H0W5
SMRiQ9H0W5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili349 – 366Sequence analysisAdd BLAST18
Coiled coili514 – 535Sequence analysisAdd BLAST22

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi500 – 506PxLPxI/L motif; mediates interaction with ANKRA21 Publication7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi275 – 278Poly-Arg4

Domaini

The PxLPxI/L motif mediates interaction with ankyrin repeats of ANKRA2.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410J8V3 Eukaryota
ENOG410Y3DP LUCA
GeneTreeiENSGT00440000038596
HOGENOMiHOG000111446
HOVERGENiHBG050825
InParanoidiQ9H0W5
KOiK17561
OMAiVWRVISK
OrthoDBiEOG091G0BG9
PhylomeDBiQ9H0W5
TreeFamiTF335054

Family and domain databases

InterProiView protein in InterPro
IPR026526 Coiled-coil_p8
IPR026523 PNMA
PANTHERiPTHR23095 PTHR23095, 1 hit
PTHR23095:SF2 PTHR23095:SF2, 1 hit
PfamiView protein in Pfam
PF14893 PNMA, 1 hit

Sequencei

Sequence statusi: Complete.

Q9H0W5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLQIGEDVDY LLIPREVRLA GGVWRVISKP ATKEAEFRER LTQFLEEEGR
60 70 80 90 100
TLEDVARIME KSTPHPPQPP KKPKEPRVRR RVQQMVTPPP RLVVGTYDSS
110 120 130 140 150
NASDSEFSDF ETSRDKSRQG PRRGKKVRKM PVSYLGSKFL GSDLESEDDE
160 170 180 190 200
ELVEAFLRRQ EKQPSAPPAR RRVNLPVPMF EDNLGPQLSK ADRWREYVSQ
210 220 230 240 250
VSWGKLKRRV KGWAPRAGPG VGEARLASTA VESAGVSSAP EGTSPGDRLG
260 270 280 290 300
NAGDVCVPQA SPRRWRPKIN WASFRRRRKE QTAPTGQGAD IEADQGGEAA
310 320 330 340 350
DSQREEAIAD QREGAAGNQR AGAPADQGAE AADNQREEAA DNQRAGAPAE
360 370 380 390 400
EGAEAADNQR EEAADNQRAE APADQRSQGT DNHREEAADN QRAEAPADQG
410 420 430 440 450
SEVTDNQREE AVHDQRERAP AVQGADNQRA QARAGQRAEA AHNQRAGAPG
460 470 480 490 500
IQEAEVSAAQ GTTGTAPGAR ARKQVKTVRF QTPGRFSWFC KRRRAFWHTP
510 520 530
RLPTLPKRVP RAGEARNLRV LRAEARAEAE QGEQEDQL
Length:538
Mass (Da):59,374
Last modified:October 17, 2006 - v2
Checksum:iEB33975190CD9E81
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti515A → V in CAB66544 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061587296G → R. Corresponds to variant dbSNP:rs11880658Ensembl.1
Natural variantiVAR_061588383H → Y. Corresponds to variant dbSNP:rs34186470Ensembl.1
Natural variantiVAR_020272507K → N. Corresponds to variant dbSNP:rs2279517EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136609 mRNA Translation: CAB66544.1
BC025243 mRNA Translation: AAH25243.1
CCDSiCCDS12685.1
RefSeqiNP_114429.2, NM_032040.4
UniGeneiHs.744359
Hs.97876

Genome annotation databases

EnsembliENST00000307522; ENSP00000303158; ENSG00000169515
GeneIDi83987
KEGGihsa:83987
UCSCiuc002pep.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCCDC8_HUMAN
AccessioniPrimary (citable) accession number: Q9H0W5
Secondary accession number(s): Q8TB26
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 17, 2006
Last modified: July 18, 2018
This is version 129 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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