CCDC8 coiled-coil domain containing 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC8provided by HGNC
Official Full Name: coiled-coil domain containing 8provided by HGNC
Primary source: HGNC:HGNC:25367
See related: Ensembl:ENSG00000169515 MIM:614145; AllianceGenome:HGNC:25367
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 3M3; p90; PPP1R20
Summary: 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. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (46410329..46413564, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (49237640..49240878, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (46913586..46916821, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A rare cause of syndromic short stature: 3M syndrome in three families.
Title: A rare cause of syndromic short stature: 3M syndrome in three families.
Overexpressed coiled-coil domain containing protein 8 (CCDC8) mediates newly synthesized HIV-1 Gag lysosomal degradation.
Title: Overexpressed coiled-coil domain containing protein 8 (CCDC8) mediates newly synthesized HIV-1 Gag lysosomal degradation.
Variants near TTN and CCDC8 were associated with KI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in hepatitis B-related hepatocellular carcinoma patients.
Title: Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China.
CCDC8 may suppress the invasion and metastasis of non-small cell lung cancer cells.
Title: Coiled-coil domain-containing protein 8 inhibits the invasiveness and migration of non-small cell lung cancer cells.
CUL7, OBSL1 and CCDC8 modulate the alternative splicing of the INSR
Title: Identifying biological pathways that underlie primordial short stature using network analysis.
The CUL7, OBSL1, and CCDC8 proteins form a 3M complex that functions in maintaining microtubule and genome integrity and normal development.
Title: The 3M complex maintains microtubule and genome integrity.
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
Title: Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
discussion of roles of CCDC8, CUL7 (cullin 7), and OBSL1 (obscurin-like 1) in growth and development using findings from patients with Miller-McKusick-Malvaux syndrome and Silver-Russell syndrome [REVIEW]
Title: The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.
p90 is a critical cofactor for p53-mediated apoptosis through promoting Tip60-mediated p53 acetylation.
Title: Differential effects on p53-mediated cell cycle arrest vs. apoptosis by p90.
We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth.
Title: Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
3M syndrome 3 MedGen: C3280146 OMIM: 614205 GeneReviews: Three M Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infectivity is decreased by overexpression of CCDC8 in producer cells (HEK293T)	PubMed
HIV-1 production is inhibited by CCDC8 overexpression in HEK293T cells and to a lesser extent in HeLa cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag is degraded by CCDC8	PubMed
	gag	HIV-1 Gag is relocalized by CCDC8 from the plasma membrane to the cytoplasm via endocytosis but not via the endolysosome pathway	PubMed
	gag	HIV-1 Gag incorporates CCDC8 into HIV-1 virions	PubMed
	gag	HIV-1 Gag is polyubiquitinylated by CCDC8	PubMed
matrix	gag	HIV-1 MA interacts with CCDC8	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic nuclear division	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitotic nuclear division	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of 3M complex	IBA Inferred from Biological aspect of Ancestor more info
part_of 3M complex	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 8

Names: protein phosphatase 1, regulatory subunit 20

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031956.1 RefSeqGene

Range

5099..8334

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1258

mRNA and Protein(s)

NM_032040.5 → NP_114429.2 coiled-coil domain-containing protein 8

See identical proteins and their annotated locations for NP_114429.2

Status: REVIEWED

Source sequence(s)

AI301367, AL136609, BC025243, JN703457

Consensus CDS

CCDS12685.1

UniProtKB/Swiss-Prot

Q8TB26, Q9H0W5

UniProtKB/TrEMBL

G8IFA7

Related

ENSP00000303158.3, ENST00000307522.5

Conserved Domains (2) summary

pfam14893
Location:2 → 57

PNMA; PNMA

cl21487
Location:235 → 334

OM_channels; Porin superfamily. These outer membrane channels share a beta-barrel structure that differ in strand and shear number. Classical (gram-negative ) porins are non-specific channels for small hydrophillic molecules and form 16 beta-stranded barrels (16,20) ...