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    COPS6 COP9 signalosome subunit 6 [ Homo sapiens (human) ]

    Gene ID: 10980, updated on 9-Dec-2024

    Summary

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    Official Symbol
    COPS6provided by HGNC
    Official Full Name
    COP9 signalosome subunit 6provided by HGNC
    Primary source
    HGNC:HGNC:21749
    See related
    Ensembl:ENSG00000168090 MIM:614729; AllianceGenome:HGNC:21749
    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
    CSN6; MOV34-34KD
    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. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in esophagus (RPKM 33.2), testis (RPKM 32.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COPS6 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100088969..100092187)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101328815..101332033)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99686592..99689810)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18412 Neighboring gene zinc finger with KRAB and SCAN domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99634953-99635454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99635455-99635954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99647299-99647918 Neighboring gene zinc finger and SCAN domain containing 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26333 Neighboring gene Sharpr-MPRA regulatory region 7718 Neighboring gene zinc finger protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26334 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99679591-99680572 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:99684712-99685405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18414 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:99686990-99688189 Neighboring gene Sharpr-MPRA regulatory region 1952 Neighboring gene microRNA 25 Neighboring gene microRNA 93 Neighboring gene minichromosome maintenance complex component 7

    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. [Distribution pattern of rigor mortis in various joint regions]. Mittmeyer HJ. Beitr Gerichtl Med, 1975. PMID 1222062
    2. Choice of expression vector alters the localization of a human cellular protein. Ramanathan MP, et al. DNA Cell Biol, 2001 Feb. PMID 11244567
    3. Overexpression of CSN6 promotes the epithelial-mesenchymal transition and predicts poor prognosis in hepatocellular carcinoma. Xu M, et al. Clin Res Hepatol Gastroenterol, 2020 Jun. PMID 31422034
    4. The prognostic value of CSN6 expression in upper tract urothelial carcinomas. Jhan JH, et al. Kaohsiung J Med Sci, 2019 Sep. PMID 31339657
    5. Crystal structure of the human CSN6 MPN domain. Ma XL, et al. Biochem Biophys Res Commun, 2014 Oct 10. PMID 25242525

    See all (176) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation.
      Title: CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation.
    2. CSN6 Mediates Nucleotide Metabolism to Promote Tumor Development and Chemoresistance in Colorectal Cancer.
      Title: CSN6 Mediates Nucleotide Metabolism to Promote Tumor Development and Chemoresistance in Colorectal Cancer.
    3. CSN6 promotes melanoma proliferation and metastasis by controlling the UBR5-mediated ubiquitination and degradation of CDK9.
      Title: CSN6 promotes melanoma proliferation and metastasis by controlling the UBR5-mediated ubiquitination and degradation of CDK9.
    4. Overexpression of CSN6 promotes the epithelial-mesenchymal transition and predicts poor prognosis in hepatocellular carcinoma.
      Title: Overexpression of CSN6 promotes the epithelial-mesenchymal transition and predicts poor prognosis in hepatocellular carcinoma.
    5. CSN6 promotes the cell migration of breast cancer cells by positively regulating Snail1 stability.
      Title: CSN6 promotes the cell migration of breast cancer cells by positively regulating Snail1 stability.
    6. CUL4A regulates endometrial cancer cell proliferation, invasion and migration by interacting with CSN6.
      Title: CUL4A regulates endometrial cancer cell proliferation, invasion and migration by interacting with CSN6.
    7. CSN6 promotes malignant progression of oral squamous cell carcinoma by down-regulating TIMP-2.
      Title: CSN6 promotes malignant progression of oral squamous cell carcinoma by down-regulating TIMP-2.
    8. CSN6-TRIM21 axis instigates cancer stemness during tumorigenesis.
      Title: CSN6-TRIM21 axis instigates cancer stemness during tumorigenesis.
    9. CSN6 inhibition suppresses pancreatic adenocarcinoma metastasis via destabilizing the c-Fos protein.
      Title: CSN6 inhibition suppresses pancreatic adenocarcinoma metastasis via destabilizing the c-Fos protein.
    10. High CSN6 expression is associated with glioblastoma.
      Title: EGFR-ERK pathway regulates CSN6 to contribute to PD-L1 expression in glioblastoma.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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 6 (COPS6) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    vpr Interaction of HIV-1 Vpr and hVIP/mov34 is associated with the Vpr mediated inhibition of maturation promoting factor (MPF), a protein kinase complex composed of p34cdc2 and cyclin B PubMed
    vpr Interaction of HIV-1 Vpr and hVIP/mov34 may be involved in the activation of glucocorticoid receptor by Vpr PubMed
    vpr Interaction of HIV-1 Vpr with hVIP/mov34 is associated with the cell cycle arrest function of Vpr, suggesting hVIP/mov34 is a cellular cofactor for Vpr PubMed
    vpr The C-terminal portion of HIV-1 Vpr directly binds the C-terminal region of hVIP/mov34 (amino acids 251-341) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables metal-dependent deubiquitinase activity IKR
    Inferred from Key Residues
    more info
    		 PubMed 
    NOT enables peptidase activity IKR
    Inferred from Key Residues
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 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 TAS
    Traceable Author Statement
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    COP9 signalosome complex subunit 6
    Names
    COP9 constitutive photomorphogenic homolog subunit 6
    H_NH0506M12.12
    JAB1-containing signalosome subunit 6
    MOV34 homolog, 34 kD
    SGN6
    hVIP
    vpr-interacting protein

    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

    1. NG_046973.1 RefSeqGene

      Range
      5010..8228
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006833.5 → NP_006824.2  COP9 signalosome complex subunit 6

      See identical proteins and their annotated locations for NP_006824.2

      Status: REVIEWED

      Source sequence(s)
      BC002520, CB990467, CD367717
      Consensus CDS
      CCDS5682.1
      UniProtKB/Swiss-Prot
      A4D2A3, O15387, Q7L5N1
      UniProtKB/TrEMBL
      E7EM64
      Related
      ENSP00000304102.3, ENST00000303904.8
      Conserved Domains (1) summary
      cd08063
      Location:39 → 321
      MPN_CSN6; Mpr1p, Pad1p N-terminal (MPN) domains without catalytic isopeptidase activity, found in COP9 signalosome complex subunit 6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100088969..100092187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101328815..101332033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L5N1.1 GenPept UniProtKB/Swiss-Prot:Q7L5N1

    Gene LinkOut

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

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