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

Gene ID: 8533, updated on 7-Apr-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
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Genomic context

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Location:
17p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17246616..17281246, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17192637..17227324, complement)
105.20220307 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
  • 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. Overexpression of COPS3 promotes clear cell renal cell carcinoma progression via regulation of Phospho-AKT(Thr308), Cyclin D1 and Caspase-3. Hong Y, et al. Exp Cell Res, 2018 Apr 15. PMID 29477618
  2. Integrated analysis of gene expression and genomic aberration data in osteosarcoma (OS). Xiong Y, et al. Cancer Gene Ther, 2015 Nov. PMID 26427513
  3. 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
  4. Inhibition of Csn3 expression induces growth arrest and apoptosis of hepatocellular carcinoma cells. Yu YS, et al. Cancer Chemother Pharmacol, 2012 May. PMID 22237956
  5. RNAi-mediated COPS3 gene silencing inhibits metastasis of osteogenic sarcoma cells. Yan T, et al. Cancer Gene Ther, 2011 Jun. PMID 21436869, Free PMC Article

See all (155) 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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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 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_2023_10

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

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