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

    Gene ID: 10920, updated on 7-Apr-2024

    Summary

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    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

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    Location:
    2q37.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (237085889..237100474)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (237576980..237591573)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (237994532..238009117)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene COPS8 divergent transcript Neighboring gene RNA, U6 small nuclear 1051, pseudogene Neighboring gene uncharacterized LOC105373950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237965249-237965748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17364 Neighboring gene uncharacterized LOC93463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237984273-237984842 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:237993578-237994472 and GRCh37_chr2:237994473-237995367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238035253-238035767 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238034737-238035252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238036745-238037304 Neighboring gene uncharacterized LOC124906127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238046259-238046762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238046763-238047265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238064682-238065216 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:238092630-238093829 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238109387-238110058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238117356-238117856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238117857-238118357 Neighboring gene uncharacterized LOC105373953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238126819-238127349

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. COPS8 in cutaneous melanoma: an oncogene that accelerates the malignant development of tumor cells and predicts poor prognosis. Sun L. Biosci Biotechnol Biochem, 2021 Feb 18. PMID 33604618
    2. CSN8 is a key regulator in hypoxia-induced epithelial-mesenchymal transition and dormancy of colorectal cancer cells. Ju S, et al. Mol Cancer, 2020 Dec 1. PMID 33261601, Free PMC Article
    3. Human COP9 subunit 8 homolog gene SGN8 Map position 2q37. Gizatullin RZ, et al. Chromosome Res, 2000. PMID 11032325
    4. The novel components of the Arabidopsis light signaling pathway may define a group of general developmental regulators shared by both animal and plant kingdoms. Chamovitz DA, et al. Cell, 1995 Aug 11. PMID 7634324
    5. Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study. Mahmoodi M, et al. Fam Cancer, 2017 Jul. PMID 28063109

    See all (120) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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-ÎşB by targeting CARD10 and COPS8 in gastric cancer.
    7. 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.
    8. 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.
    9. 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.
    10. 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)

    Genotypes

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1297, MGC43256

    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 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)

    1. 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

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      237085889..237100474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      237576980..237591573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99627.1 GenPept UniProtKB/Swiss-Prot:Q99627

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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