COPS8 COP9 signalosome subunit 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COPS8provided by HGNC
Official Full Name: COP9 signalosome subunit 8provided by HGNC
Primary source: HGNC:HGNC:24335
See related: Ensembl:ENSG00000198612 MIM:616011; AllianceGenome:HGNC:24335
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: COP9; CSN8; SGN8
Summary: The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 28.1), testis (RPKM 22.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (237085889..237100474)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (237576980..237591573)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (237994532..238009117)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

COP9 signalosome complex is a prognostic biomarker and corresponds with immune infiltration in hepatocellular carcinoma.
Title: COP9 signalosome complex is a prognostic biomarker and corresponds with immune infiltration in hepatocellular carcinoma.
CSN8 is a key regulator in hypoxia-induced epithelial-mesenchymal transition and dormancy of colorectal cancer cells.
Title: CSN8 is a key regulator in hypoxia-induced epithelial-mesenchymal transition and dormancy of colorectal cancer cells.
COPS8 in cutaneous melanoma: an oncogene that accelerates the malignant development of tumor cells and predicts poor prognosis.
Title: COPS8 in cutaneous melanoma: an oncogene that accelerates the malignant development of tumor cells and predicts poor prognosis.
Among 479 individuals affected with clear cell renal cell carcinoma, only synonymous variants were found in COPS8 and one of the missense variants in ACKR3:c.892C>T, was observed in 4/479 individuals screened
Title: Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.
Data indicate that silencing of Csn8 caused an increased growth rate, whereas silencing of Csn5 impaired proliferation in HeLa cells.
Title: COP9 signalosome subunit Csn8 is involved in maintaining proper duration of the G1 phase.
miR-146a expression is up-regulated in a majority of gastric cancers where it targets CARD10 and COPS8, inhibiting GPCR-mediated activation of NF-kappaB.
Title: microRNA-146a inhibits G protein-coupled receptor-mediated activation of NF-κB by targeting CARD10 and COPS8 in gastric cancer.
proteomic-based approach can broaden our understanding of the functions of the CSN in contexts such as viral-host interactions or immune activation in their natural milieu
Title: Purification of the COP9 signalosome complex and binding partners from human T cells.
analysis of the COP9 signalosome and its common architecture with the 26S proteasome lid and eIF3
Title: Structural insights into the COP9 signalosome and its common architecture with the 26S proteasome lid and eIF3.
COP9/signalosome increases the efficiency of von Hippel-Lindau protein ubiquitin ligase-mediated hypoxia-inducible factor-alpha ubiquitination
Title: The COP9/signalosome increases the efficiency of von Hippel-Lindau protein ubiquitin ligase-mediated hypoxia-inducible factor-alpha ubiquitination.
DDB2 and CSA are each integrated into nearly identical complexes via interaction with DDB1. Both complexes contain cullin 4A and Roc1 and display ubiquitin ligase activity. They also contain the COP9 signalosome (CSN)
Title: The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr is identified to have a physical interaction with COP9 constitutive photomorphogenic homolog subunit 8 (COPS8; CSN8) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	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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Markers

RH11779 (e-PCR)
- UniSTS:77875

STS-W37517 (e-PCR)
- UniSTS:41543

RH65216 (e-PCR)
- UniSTS:89185

SHGC-79756 (e-PCR)
- UniSTS:101082

D2S1655E (e-PCR)
- UniSTS:5623

SGC31839 (e-PCR)
- UniSTS:19447

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 COP9 signalosome assembly	IEA Inferred from Electronic Annotation more info
involved_in activation of NF-kappaB-inducing kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein deneddylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein neddylation	NAS Non-traceable Author Statement more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein neddylation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of COP9 signalosome	IBA Inferred from Biological aspect of Ancestor more info
part_of COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
part_of COP9 signalosome	IPI Inferred from Physical Interaction more info	PubMed
part_of COP9 signalosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: COP9 signalosome complex subunit 8

Names: COP9 constitutive photomorphogenic homolog subunit 8; COP9 homolog; JAB1-containing signalosome subunit 8; signalosome subunit 8

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.

mRNA and Protein(s)

NM_006710.5 → NP_006701.1 COP9 signalosome complex subunit 8 isoform 1

See identical proteins and their annotated locations for NP_006701.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC105760, AL038738, BC003090, BC036499

Consensus CDS

CCDS2517.1

UniProtKB/Swiss-Prot

A8K1H6, Q53QS9, Q99627

UniProtKB/TrEMBL

B2R8N1

Related

ENSP00000346340.2, ENST00000354371.7

Conserved Domains (1) summary

pfam10075
Location:31 → 166

CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family
NM_198189.3 → NP_937832.1 COP9 signalosome complex subunit 8 isoform 2

See identical proteins and their annotated locations for NP_937832.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional exon compared to variant 1, resulting in translation initiation from a downstream start codon and an isoform (2) with a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC105760, AL038738, BC003090, BF979628

Consensus CDS

CCDS42835.1

UniProtKB/Swiss-Prot

Q99627

Related

ENSP00000375865.2, ENST00000392008.6

Conserved Domains (1) summary

pfam10075
Location:1 → 117

CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family