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    COPS3 COP9 signalosome subunit 3 [ Homo sapiens (human) ]

    Gene ID: 8533, updated on 28-Oct-2024

    Summary

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    Official Symbol
    COPS3provided by HGNC
    Official Full Name
    COP9 signalosome subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:2239
    See related
    Ensembl:ENSG00000141030 MIM:604665; AllianceGenome:HGNC:2239
    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
    CSN3; SGN3
    Summary
    The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in testis (RPKM 49.1), bone marrow (RPKM 38.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COPS3 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17246616..17281246, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17192637..17227324, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17149930..17184560, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17132411-17132910 Neighboring gene folliculin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11794 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17141243-17141428 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17154504-17154606 Neighboring gene actin gamma 1 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11795 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17204068-17204643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8242 Neighboring gene 5',3'-nucleotidase, mitochondrial Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17229781-17230281 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17254745-17255324 Neighboring gene Sharpr-MPRA regulatory region 4579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17258250-17258750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17258751-17259251 Neighboring gene ribosomal protein L13 pseudogene 12

    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 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. Identification of novel candidate oncogenes in chromosome region 17p11.2-p12 in human osteosarcoma. Both J, et al. PLoS One, 2012. PMID 22292074, Free PMC Article
    2. Inhibition of Csn3 expression induces growth arrest and apoptosis of hepatocellular carcinoma cells. Yu YS, et al. Cancer Chemother Pharmacol, 2012 May. PMID 22237956
    3. COPS3 amplification and clinical outcome in osteosarcoma. Yan T, et al. Cancer, 2007 May 1. PMID 17366602
    4. Amplification and overexpression of COPS3 in osteosarcomas potentially target TP53 for proteasome-mediated degradation. Henriksen J, et al. Oncogene, 2003 Aug 14. PMID 12917637
    5. Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2. Potocki L, et al. Genomics, 1999 Apr 1. PMID 10191102

    See all (173) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The COPS3-FOXO3 positive feedback loop regulates autophagy to promote cisplatin resistance in osteosarcoma.
      Title: The COPS3-FOXO3 positive feedback loop regulates autophagy to promote cisplatin resistance in osteosarcoma.
    2. COPS3 may be closely related to the progress of PCa. Knockdown of COPS3 inhibited the progress of PCa through reducing the levels of phosphorylated P38 MAPK and impaired the epithelial-mesenchymal transition process.
      Title: Knockdown of COPS3 inhibits the progress of prostate cancer through reducing phosphorylated p38 MAPK expression and impairs the epithelial-mesenchymal transition process.
    3. these data reveal a novel function of COPS3 in the regulation of autophagy and highlight the relationship between autophagy and metastasis in osteosarcoma cells.
      Title: Novel oncogene COPS3 interacts with Beclin1 and Raf-1 to regulate metastasis of osteosarcoma through autophagy.
    4. COPS3 may be a new potential target of clear cell renal cell carcinoma.
      Title: Overexpression of COPS3 promotes clear cell renal cell carcinoma progression via regulation of Phospho-AKT(Thr308), Cyclin D1 and Caspase-3.
    5. Here the authors identify a potential mechanism by which desmosomes assist the de-neddylating COP9 signalosome (CSN) in attenuating EGFR through an association between the Cops3 subunit of the CSN and desmosomal components, Desmoglein1 (Dsg1) and Desmoplakin (Dp), to promote epidermal differentiation.
      Title: Epidermal Growth Factor Receptor neddylation is regulated by a desmosomal-COP9 (Constitutive Photomorphogenesis 9) signalosome complex.
    6. this study demonstrates Csn3 as an oncogene that regulates the tumorigenesis process in hepatocellular carcinoma (HCC) cells.
      Title: Inhibition of Csn3 expression induces growth arrest and apoptosis of hepatocellular carcinoma cells.
    7. of the COPS3 gene might have important roles in metastasis of osteosarcoma cells.
      Title: RNAi-mediated COPS3 gene silencing inhibits metastasis of osteogenic sarcoma cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    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 3 (COPS3; CSN3) 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

    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 in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein neddylation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to light stimulus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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 3
    Names
    COP9 complex subunit 3
    COP9 constitutive photomorphogenic homolog subunit 3
    JAB1-containing signalosome subunit 3
    signalosome subunit 3

    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_001199125.1 → NP_001186054.1  COP9 signalosome complex subunit 3 isoform 2

      See identical proteins and their annotated locations for NP_001186054.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC055811, AK302304, BU952436
      Consensus CDS
      CCDS56022.1
      UniProtKB/TrEMBL
      H7C3P9
      Related
      ENSP00000437606.2, ENST00000539941.6
      Conserved Domains (1) summary
      pfam01399
      Location:239 → 342
      PCI; PCI domain

    2. NM_001316354.2 → NP_001303283.1  COP9 signalosome complex subunit 3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains two alternate splice junctions compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC055811, AK297706, BC001891, BP260214, BU952436, DB493356
      UniProtKB/TrEMBL
      B4DN01
      Conserved Domains (1) summary
      pfam01399
      Location:129 → 232
      PCI; PCI domain

    3. NM_001316355.2 → NP_001303284.1  COP9 signalosome complex subunit 3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC055811, AF031647, BC001891, BI520077, BP260214, BU952436, DB493356
      UniProtKB/TrEMBL
      H7C3P9
      Conserved Domains (1) summary
      smart00088
      Location:251 → 325
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15

    4. NM_001316356.2 → NP_001303285.1  COP9 signalosome complex subunit 3 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a 5' exon compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (5) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC055811, AF031647, BC001891, BP260214, BU171304, BU952436, DB493356
      UniProtKB/TrEMBL
      B4DN01
      Conserved Domains (1) summary
      pfam01399
      Location:192 → 295
      PCI; PCI domain

    5. NM_001316357.2 → NP_001303286.1  COP9 signalosome complex subunit 3 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon compared to variant 1. The resulting isoform (6) has a shorter and distinct N-terminus compared to isoform 1. Variants 6 and 7 both encode the same isoform (6).
      Source sequence(s)
      AC055811, AF031647, BC001891, BU154357, BU952436
      UniProtKB/TrEMBL
      B4DN01
      Conserved Domains (1) summary
      pfam01399
      Location:154 → 257
      PCI; PCI domain

    6. NM_001316358.2 → NP_001303287.1  COP9 signalosome complex subunit 3 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two alternate exons compared to variant 1. The resulting isoform (6) has a shorter and distinct N-terminus compared to isoform 1. Variants 6 and 7 both encode the same isoform (6).
      Source sequence(s)
      AC055811, AF031647, BC001891, BG030374, BP260214, BU952436
      UniProtKB/TrEMBL
      B4DN01
      Conserved Domains (1) summary
      pfam01399
      Location:154 → 257
      PCI; PCI domain

    7. NM_003653.4 → NP_003644.2  COP9 signalosome complex subunit 3 isoform 1

      See identical proteins and their annotated locations for NP_003644.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC055811, BC001891, BU952436
      Consensus CDS
      CCDS11183.1
      UniProtKB/Swiss-Prot
      B2R683, B4DY81, O43191, Q7LDR6, Q9UNS2
      UniProtKB/TrEMBL
      H7C3P9
      Related
      ENSP00000268717.5, ENST00000268717.10
      Conserved Domains (1) summary
      pfam01399
      Location:259 → 362
      PCI; PCI domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      17246616..17281246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436961.1 → XP_047292917.1  COP9 signalosome complex subunit 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      17192637..17227324 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317609.1 → XP_054173584.1  COP9 signalosome complex subunit 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNS2.3 GenPept UniProtKB/Swiss-Prot:Q9UNS2

    Gene LinkOut

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

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