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Protein

Coiled-coil domain-containing protein 8

Gene

CCDC8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  1. microtubule cytoskeleton organization Source: UniProtKB
  2. negative regulation of phosphatase activity Source: UniProtKB
  3. regulation of mitotic nuclear division Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 8
Gene namesi
Name:CCDC8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:25367. CCDC8.

Subcellular locationi

  1. Cytoplasm 1 Publication
  2. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication

GO - Cellular componenti

  1. 3M complex Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. cytoplasm Source: UniProtKB
  4. plasma membrane Source: LIFEdb
Complete GO annotation...

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

Keywords - Diseasei

Dwarfism

Organism-specific databases

MIMi614205. phenotype.
Orphaneti2616. 3M syndrome.
PharmGKBiPA134931534.

Polymorphism and mutation databases

BioMutaiCCDC8.
DMDMi116241287.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 538538Coiled-coil domain-containing protein 8PRO_0000089401Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei142 – 1421Phosphoserine1 Publication
Modified residuei146 – 1461Phosphoserine1 Publication
Modified residuei261 – 2611Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9H0W5.
PaxDbiQ9H0W5.
PRIDEiQ9H0W5.

PTM databases

PhosphoSiteiQ9H0W5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9H0W5.
CleanExiHS_CCDC8.
GenevestigatoriQ9H0W5.

Organism-specific databases

HPAiHPA041993.

Interactioni

Subunit structurei

Component of the 3M complex, composed of core components CUL7, CCDC8 and OBSL1. Interacts with OBSL1.2 Publications

Protein-protein interaction databases

BioGridi123838. 545 interactions.
DIPiDIP-60183N.
IntActiQ9H0W5. 4 interactions.
MINTiMINT-4724658.
STRINGi9606.ENSP00000303158.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4LG6X-ray1.80B494-510[»]
ProteinModelPortaliQ9H0W5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili349 – 36618Sequence AnalysisAdd
BLAST
Coiled coili514 – 53522Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi275 – 2784Poly-Arg

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG69684.
GeneTreeiENSGT00440000038596.
HOGENOMiHOG000111446.
HOVERGENiHBG050825.
InParanoidiQ9H0W5.
KOiK17561.
OMAiEAADNQR.
OrthoDBiEOG708VZW.
PhylomeDBiQ9H0W5.
TreeFamiTF335054.

Family and domain databases

InterProiIPR026526. Coiled-coil_p8.
IPR026523. PNMA.
[Graphical view]
PANTHERiPTHR23095. PTHR23095. 1 hit.
PTHR23095:SF2. PTHR23095:SF2. 1 hit.
PfamiPF14893. PNMA. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti515 – 5151A → V in CAB66544 (PubMed:11230166).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti296 – 2961G → R.
Corresponds to variant rs11880658 [ dbSNP | Ensembl ].
VAR_061587
Natural varianti383 – 3831H → Y.
Corresponds to variant rs34186470 [ dbSNP | Ensembl ].
VAR_061588
Natural varianti507 – 5071K → N.
Corresponds to variant rs2279517 [ dbSNP | Ensembl ].
VAR_020272

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.3. human.

Polymorphism and mutation databases

BioMutaiCCDC8.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4LG6X-ray1.80B494-510[»]
ProteinModelPortaliQ9H0W5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123838. 545 interactions.
DIPiDIP-60183N.
IntActiQ9H0W5. 4 interactions.
MINTiMINT-4724658.
STRINGi9606.ENSP00000303158.

PTM databases

PhosphoSiteiQ9H0W5.

Polymorphism and mutation databases

BioMutaiCCDC8.
DMDMi116241287.

Proteomic databases

MaxQBiQ9H0W5.
PaxDbiQ9H0W5.
PRIDEiQ9H0W5.

Protocols and materials databases

DNASUi83987.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307522; ENSP00000303158; ENSG00000169515.
GeneIDi83987.
KEGGihsa:83987.
UCSCiuc002pep.3. human.

Organism-specific databases

CTDi83987.
GeneCardsiGC19M046914.
GeneReviewsiCCDC8.
HGNCiHGNC:25367. CCDC8.
HPAiHPA041993.
MIMi614145. gene.
614205. phenotype.
neXtProtiNX_Q9H0W5.
Orphaneti2616. 3M syndrome.
PharmGKBiPA134931534.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG69684.
GeneTreeiENSGT00440000038596.
HOGENOMiHOG000111446.
HOVERGENiHBG050825.
InParanoidiQ9H0W5.
KOiK17561.
OMAiEAADNQR.
OrthoDBiEOG708VZW.
PhylomeDBiQ9H0W5.
TreeFamiTF335054.

Miscellaneous databases

GeneWikiiCCDC8.
GenomeRNAii83987.
NextBioi73122.
PROiQ9H0W5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H0W5.
CleanExiHS_CCDC8.
GenevestigatoriQ9H0W5.

Family and domain databases

InterProiIPR026526. Coiled-coil_p8.
IPR026523. PNMA.
[Graphical view]
PANTHERiPTHR23095. PTHR23095. 1 hit.
PTHR23095:SF2. PTHR23095:SF2. 1 hit.
PfamiPF14893. PNMA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. "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].
    Tissue: Uterus.
  3. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  4. "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth."
    Hanson D., Murray P.G., O'Sullivan J., Urquhart J., Daly S., Bhaskar S.S., Biesecker L.G., Skae M., Smith C., Cole T., Kirk J., Chandler K., Kingston H., Donnai D., Clayton P.E., Black G.C.
    Am. J. Hum. Genet. 89:148-153(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH OBSL1, TISSUE SPECIFICITY, INVOLVEMENT IN 3M3.
  5. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-142 AND SER-146, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: INVOLVEMENT IN 3M3.
  7. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-261, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  8. Cited for: FUNCTION, IDENTIFICATION IN THE 3M COMPLEX, SUBCELLULAR LOCATION.
  9. "CUL9 mediates the functions of the 3M complex and ubiquitylates survivin to maintain genome integrity."
    Li Z., Pei X.H., Yan J., Yan F., Cappell K.M., Whitehurst A.W., Xiong Y.
    Mol. Cell 54:805-819(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.

Entry informationi

Entry nameiCCDC8_HUMAN
AccessioniPrimary (citable) accession number: Q9H0W5
Secondary accession number(s): Q8TB26
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 17, 2006
Last modified: April 29, 2015
This is version 102 of the entry and version 2 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

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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.