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Q9H0W5 (CCDC8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 8
Gene names
Name:CCDC8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length538 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with OBSL1. Ref.4

Tissue specificity

Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver. Ref.4

Involvement in disease

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. Ref.4

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DiseaseDwarfism
   DomainCoiled coil
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processnegative regulation of phosphatase activity

Inferred from direct assay PubMed 19389623. Source: UniProtKB

   Cellular_componentplasma membrane

Inferred from direct assay. Source: LIFEdb

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 538538Coiled-coil domain-containing protein 8
PRO_0000089401

Regions

Coiled coil349 – 36618 Potential
Coiled coil514 – 53522 Potential
Compositional bias275 – 2784Poly-Arg

Amino acid modifications

Modified residue1421Phosphoserine Ref.5
Modified residue1461Phosphoserine Ref.5

Natural variations

Natural variant2961G → R.
Corresponds to variant rs11880658 [ dbSNP | Ensembl ].
VAR_061587
Natural variant3831H → Y.
Corresponds to variant rs34186470 [ dbSNP | Ensembl ].
VAR_061588
Natural variant5071K → N.
Corresponds to variant rs2279517 [ dbSNP | Ensembl ].
VAR_020272

Experimental info

Sequence conflict5151A → V in CAB66544. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9H0W5 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: EB33975190CD9E81

FASTA53859,374
        10         20         30         40         50         60 
MLQIGEDVDY LLIPREVRLA GGVWRVISKP ATKEAEFRER LTQFLEEEGR TLEDVARIME 

        70         80         90        100        110        120 
KSTPHPPQPP KKPKEPRVRR RVQQMVTPPP RLVVGTYDSS NASDSEFSDF ETSRDKSRQG 

       130        140        150        160        170        180 
PRRGKKVRKM PVSYLGSKFL GSDLESEDDE ELVEAFLRRQ EKQPSAPPAR RRVNLPVPMF 

       190        200        210        220        230        240 
EDNLGPQLSK ADRWREYVSQ VSWGKLKRRV KGWAPRAGPG VGEARLASTA VESAGVSSAP 

       250        260        270        280        290        300 
EGTSPGDRLG NAGDVCVPQA SPRRWRPKIN WASFRRRRKE QTAPTGQGAD IEADQGGEAA 

       310        320        330        340        350        360 
DSQREEAIAD QREGAAGNQR AGAPADQGAE AADNQREEAA DNQRAGAPAE EGAEAADNQR 

       370        380        390        400        410        420 
EEAADNQRAE APADQRSQGT DNHREEAADN QRAEAPADQG SEVTDNQREE AVHDQRERAP 

       430        440        450        460        470        480 
AVQGADNQRA QARAGQRAEA AHNQRAGAPG IQEAEVSAAQ GTTGTAPGAR ARKQVKTVRF 

       490        500        510        520        530 
QTPGRFSWFC KRRRAFWHTP RLPTLPKRVP RAGEARNLRV LRAEARAEAE QGEQEDQL 

« Hide

References

« Hide 'large scale' references
[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL136609 mRNA. Translation: CAB66544.1.
BC025243 mRNA. Translation: AAH25243.1.
CCDSCCDS12685.1.
RefSeqNP_114429.2. NM_032040.4.
UniGeneHs.744359.
Hs.97876.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4LG6X-ray1.80B494-510[»]
ProteinModelPortalQ9H0W5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123838. 10 interactions.
DIPDIP-60183N.
IntActQ9H0W5. 4 interactions.
MINTMINT-4724658.
STRING9606.ENSP00000303158.

PTM databases

PhosphoSiteQ9H0W5.

Polymorphism databases

DMDM116241287.

Proteomic databases

MaxQBQ9H0W5.
PaxDbQ9H0W5.
PRIDEQ9H0W5.

Protocols and materials databases

DNASU83987.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000307522; ENSP00000303158; ENSG00000169515.
GeneID83987.
KEGGhsa:83987.
UCSCuc002pep.3. human.

Organism-specific databases

CTD83987.
GeneCardsGC19M046914.
GeneReviewsCCDC8.
HGNCHGNC:25367. CCDC8.
HPAHPA041993.
MIM614145. gene.
614205. phenotype.
neXtProtNX_Q9H0W5.
Orphanet2616. 3M syndrome.
PharmGKBPA134931534.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG69684.
HOGENOMHOG000111446.
HOVERGENHBG050825.
InParanoidQ9H0W5.
KOK17561.
OMAEAADNQR.
OrthoDBEOG708VZW.
PhylomeDBQ9H0W5.
TreeFamTF335054.

Gene expression databases

BgeeQ9H0W5.
CleanExHS_CCDC8.
GenevestigatorQ9H0W5.

Family and domain databases

InterProIPR026526. Coiled-coil_p8.
IPR026523. PNMA.
[Graphical view]
PANTHERPTHR23095. PTHR23095. 1 hit.
PTHR23095:SF2. PTHR23095:SF2. 1 hit.
PfamPF14893. PNMA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCCDC8.
GenomeRNAi83987.
NextBio73122.
PROQ9H0W5.
SOURCESearch...

Entry information

Entry nameCCDC8_HUMAN
AccessionPrimary (citable) accession number: Q9H0W5
Secondary accession number(s): Q8TB26
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM