CCDC8

CCDC8
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4LG6
Identifiers
Aliases	CCDC8 , 3M3, PPP1R20, p90, coiled-coil domain containing 8
External IDs	MGI: 3612184 HomoloGene: 49977 GeneCards: CCDC8
Gene location (Human)
Chr.	Chromosome 19 (human) [1]
End	46,413,584 bp [1]
Gene location (Mouse)
Chr.	Chromosome 7 (mouse) [2]
End	16,997,516 bp [2]
Gene ontology
Molecular function	• protein binding ;
Cellular component	• microtubule organizing center ; • plasma membrane ; • 3M complex ; • cytoskeleton ; • cytoplasm ; • centrosome ; • Cell nucleus ; • cytosol ;
Biological process	• regulation of mitotic nuclear division ; • negative regulation of phosphatase activity ; • microtubule cytoskeleton organization ; • post-translational protein modification ;
	Sources:Amigo / QuickGO
Orthologs
	83987
	434130
	ENSG00000169515
	ENSMUSG00000041117
	Q9H0W5
	D3YZV8
	NM_032040
	NM_001101535
	NP_114429
	NP_001095005
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated March 17, 2019

Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.^[5]

Protein biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

Function

This gene encodes a coiled coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1.

A coiled coil is a structural motif in proteins in which 2–7 alpha-helices are coiled together like the strands of a rope. Many coiled coil-type proteins are involved in important biological functions such as the regulation of gene expression, e.g. transcription factors. Notable examples are the oncoproteins c-Fos and c-jun, as well as the muscle protein tropomyosin.

p53 protein-coding gene in the species Homo sapiens

Tumor protein p53, also known as p53, cellular tumor antigen p53, phosphoprotein p53, tumor suppressor p53, antigen NY-CO-13, or transformation-related protein 53 (TRP53), is any isoform of a protein encoded by homologous genes in various organisms, such as TP53 (humans) and Trp53 (mice). This homolog is crucial in multicellular organisms, where it prevents cancer formation, thus, functions as a tumor suppressor. As such, p53 has been described as "the guardian of the genome" because of its role in conserving stability by preventing genome mutation. Hence TP53 is classified as a tumor suppressor gene.

Apoptosis is a form of programmed cell death that occurs in multicellular organisms. Biochemical events lead to characteristic cell changes (morphology) and death. These changes include blebbing, cell shrinkage, nuclear fragmentation, chromatin condensation, chromosomal DNA fragmentation, and global mRNA decay. The average adult human loses between 50 and 70 billion cells each day due to apoptosis. For an average human child between the ages of 8 to 14 year old approximately 20 to 30 billion cells die per day.

Clinical relevance

Mutations in this gene have been shown to cause 3-M syndrome.^[6]

3-M syndrome is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux. Mutations in any one of the following three genes: CUL7, OBSL1, and CCDC8 are responsible for the occurrence of this disorder. It is inherited through an autosomal recessive pattern and considered very rare, so far less than 100 cases worldwide have been identified.

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Coiled-coil domain-containing 78 (CCDC78) is a protein in humans encoded by the CCDC78 gene. It has several aliases including C16orf25, FLJ34512, CNM4, and JFP10. It is located on the (-) strand on chromosome 16 (16p13.3). Its gene neighborhood includes NARFL, HAGHL, FAM173A, and METRN. The CCDC78 gene is 10,892 base pairs long, and the protein contains 438 amino acids. The protein weighs approximately 4.852 KDal. There are several isoforms, including one indicated with a unique congenital myopathy. Several expression profiles show it has ubiquitous expression at moderate levels. Although no paralogs exist several orthologs do.

Coiled coil domain containing protein 120 (CCDC120), also known as JM11 protein, is a protein that, in humans, is encoded by the CCDC120 gene. The function of CCDC120 has not been formally identified but structural components, conservation, and interactions can be identified computationally.

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Coiled-coil domain containing 22 is a protein that in humans is encoded by the CCDC22 gene.

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Coiled-coil domain containing 88C is a protein that in humans is encoded by the CCDC88C gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000169515 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041117 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "Entrez Gene: Coiled-coil domain containing 8" . Retrieved 2011-12-30.
↑ Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC (July 2011). "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth". Am. J. Hum. Genet. 89 (1): 148–53. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816  . PMID 21737058.

External links

GeneReviews/NIH/NCBI/UW entry on 3-M syndrome
Human CCDC8 genome location and CCDC8 gene details page in the UCSC Genome Browser .

The UCSC Genome Browser is an on-line, and downloadable, genome browser hosted by the University of California, Santa Cruz (UCSC). It is an interactive website offering access to genome sequence data from a variety of vertebrate and invertebrate species and major model organisms, integrated with a large collection of aligned annotations. The Browser is a graphical viewer optimized to support fast interactive performance and is an open-source, web-based tool suite built on top of a MySQL database for rapid visualization, examination, and querying of the data at many levels. The Genome Browser Database, browsing tools, downloadable data files, and documentation can all be found on the UCSC Genome Bioinformatics website.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000169515 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041117 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[entrez-5] "Entrez Gene: Coiled-coil domain containing 8" . Retrieved 2011-12-30.

[pmid21737058-6] Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC (July 2011). "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth". Am. J. Hum. Genet. 89 (1): 148–53. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816  . PMID 21737058.