SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9H0W5

- CCDC8_HUMAN

UniProt

Q9H0W5 - CCDC8_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Coiled-coil domain-containing protein 8
Gene
CCDC8
Organism
Homo sapiens (Human)
Status
Reviewed - 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 (1 Publication, 1 Publication). Required for localization of CUL7 to the centrosome (1 Publication).

GO - Biological processi

  1. negative regulation of phosphatase activity 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: Chromosome 19

Organism-specific databases

HGNCiHGNC:25367. CCDC8.

Subcellular locationi

GO - Cellular componenti

  1. plasma membrane Source: LIFEdb
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

3M syndrome 3 (3M3) [MIM:614205]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Dwarfism

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Amino acid modifications

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

Protein-protein interaction databases

BioGridi123838. 10 interactions.
DIPiDIP-60183N.
IntActiQ9H0W5. 4 interactions.
MINTiMINT-4724658.
STRINGi9606.ENSP00000303158.

Structurei

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4LG6X-ray1.80B494-510[»]
ProteinModelPortaliQ9H0W5.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili349 – 36618 Reviewed prediction
Add
BLAST
Coiled coili514 – 53522 Reviewed prediction
Add
BLAST

Compositional bias

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG69684.
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

MLQIGEDVDY LLIPREVRLA GGVWRVISKP ATKEAEFRER LTQFLEEEGR    50
TLEDVARIME KSTPHPPQPP KKPKEPRVRR RVQQMVTPPP RLVVGTYDSS 100
NASDSEFSDF ETSRDKSRQG PRRGKKVRKM PVSYLGSKFL GSDLESEDDE 150
ELVEAFLRRQ EKQPSAPPAR RRVNLPVPMF EDNLGPQLSK ADRWREYVSQ 200
VSWGKLKRRV KGWAPRAGPG VGEARLASTA VESAGVSSAP EGTSPGDRLG 250
NAGDVCVPQA SPRRWRPKIN WASFRRRRKE QTAPTGQGAD IEADQGGEAA 300
DSQREEAIAD QREGAAGNQR AGAPADQGAE AADNQREEAA DNQRAGAPAE 350
EGAEAADNQR EEAADNQRAE APADQRSQGT DNHREEAADN QRAEAPADQG 400
SEVTDNQREE AVHDQRERAP AVQGADNQRA QARAGQRAEA AHNQRAGAPG 450
IQEAEVSAAQ GTTGTAPGAR ARKQVKTVRF QTPGRFSWFC KRRRAFWHTP 500
RLPTLPKRVP RAGEARNLRV LRAEARAEAE QGEQEDQL 538
Length:538
Mass (Da):59,374
Last modified:October 17, 2006 - v2
Checksum:iEB33975190CD9E81
GO

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti515 – 5151A → V in CAB66544. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 databases

DMDMi116241287.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL136609 mRNA. Translation: CAB66544.1 .
BC025243 mRNA. Translation: AAH25243.1 .
CCDSi CCDS12685.1.
RefSeqi NP_114429.2. NM_032040.4.
UniGenei Hs.744359.
Hs.97876.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4LG6 X-ray 1.80 B 494-510 [» ]
ProteinModelPortali Q9H0W5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123838. 10 interactions.
DIPi DIP-60183N.
IntActi Q9H0W5. 4 interactions.
MINTi MINT-4724658.
STRINGi 9606.ENSP00000303158.

PTM databases

PhosphoSitei Q9H0W5.

Polymorphism databases

DMDMi 116241287.

Proteomic databases

MaxQBi Q9H0W5.
PaxDbi Q9H0W5.
PRIDEi Q9H0W5.

Protocols and materials databases

DNASUi 83987.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000307522 ; ENSP00000303158 ; ENSG00000169515 .
GeneIDi 83987.
KEGGi hsa:83987.
UCSCi uc002pep.3. human.

Organism-specific databases

CTDi 83987.
GeneCardsi GC19M046914.
GeneReviewsi CCDC8.
HGNCi HGNC:25367. CCDC8.
HPAi HPA041993.
MIMi 614145. gene.
614205. phenotype.
neXtProti NX_Q9H0W5.
Orphaneti 2616. 3M syndrome.
PharmGKBi PA134931534.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG69684.
HOGENOMi HOG000111446.
HOVERGENi HBG050825.
InParanoidi Q9H0W5.
KOi K17561.
OMAi EAADNQR.
OrthoDBi EOG708VZW.
PhylomeDBi Q9H0W5.
TreeFami TF335054.

Miscellaneous databases

GeneWikii CCDC8.
GenomeRNAii 83987.
NextBioi 73122.
PROi Q9H0W5.
SOURCEi Search...

Gene expression databases

Bgeei Q9H0W5.
CleanExi HS_CCDC8.
Genevestigatori Q9H0W5.

Family and domain databases

InterProi IPR026526. Coiled-coil_p8.
IPR026523. PNMA.
[Graphical view ]
PANTHERi PTHR23095. PTHR23095. 1 hit.
PTHR23095:SF2. PTHR23095:SF2. 1 hit.
Pfami PF14893. PNMA. 1 hit.
[Graphical view ]
ProtoNeti Search...

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. Cited for: FUNCTION, IDENTIFICATION IN THE 3M COMPLEX, SUBCELLULAR LOCATION.
  8. "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 54:0-0(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: September 3, 2014
This is version 96 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