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 li... See more...

Aliases for COPS6 Gene

Aliases for COPS6 Gene

  • COP9 Signalosome Subunit 6 2 3 5
  • CSN6 2 3 4
  • HVIP 3 4 4
  • JAB1-Containing Signalosome Subunit 6 3 4
  • COP9 Signalosome Complex Subunit 6 3 4
  • Vpr-Interacting Protein 3 4
  • MOV34-34KD 2 3
  • SGN6 3 4
  • COP9 Constitutive Photomorphogenic Homolog Subunit 6 (Arabidopsis) 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 6 3
  • COP9 Subunit 6 (MOV34 Homolog, 34 KD) 2
  • Signalosome Subunit 6 4
  • MOV34 Homolog, 34 KD 3
  • H_NH0506M12.12 3
  • MOV34 Homolog 4
  • COPS6 5

External Ids for COPS6 Gene

Previous GeneCards Identifiers for COPS6 Gene

  • GC07P098221
  • GC07P099284
  • GC07P099298
  • GC07P099297
  • GC07P099331
  • GC07P099524
  • GC07P099686
  • GC07P094322

Summaries for COPS6 Gene

Entrez Gene Summary for COPS6 Gene

  • 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]

GeneCards Summary for COPS6 Gene

COPS6 (COP9 Signalosome Subunit 6) is a Protein Coding gene. Diseases associated with COPS6 include Xeroderma Pigmentosum, Complementation Group E. Among its related pathways are Clathrin-mediated endocytosis and Transcription-Coupled Nucleotide Excision Repair (TC-NER). An important paralog of this gene is PSMD7.

UniProtKB/Swiss-Prot Summary for COPS6 Gene

  • Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Has some glucocorticoid receptor-responsive activity. Stabilizes COP1 through reducing COP1 auto-ubiquitination and decelerating COP1 turnover rate, hence regulates the ubiquitination of COP1 targets.

Gene Wiki entry for COPS6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COPS6 Gene

Genomics for COPS6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COPS6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COPS6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COPS6

Top Transcription factor binding sites by QIAGEN in the COPS6 gene promoter:
  • Arnt
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pax-6
  • POU2F1
  • POU2F1a
  • SEF-1 (1)

Genomic Locations for COPS6 Gene

Genomic Locations for COPS6 Gene
chr7:100,088,969-100,092,187
(GRCh38/hg38)
Size:
3,219 bases
Orientation:
Plus strand
chr7:99,686,577-99,689,823
(GRCh37/hg19)
Size:
3,247 bases
Orientation:
Plus strand

Genomic View for COPS6 Gene

Genes around COPS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COPS6 Gene

Proteins for COPS6 Gene

  • Protein details for COPS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L5N1-CSN6_HUMAN
    Recommended name:
    COP9 signalosome complex subunit 6
    Protein Accession:
    Q7L5N1
    Secondary Accessions:
    • A4D2A3
    • O15387

    Protein attributes for COPS6 Gene

    Size:
    327 amino acids
    Molecular mass:
    36163 Da
    Quaternary structure:
    • Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COPS6, COPS7 (COPS7A or COPS7B), COPS8 and COPS9 isoform 1 (PubMed:18850735, PubMed:26456823). In the complex, it probably interacts directly with COPS2, COPS4, COPS5, COPS7 (COPS7A or COPS7B) and COPS9 isoform 1 (PubMed:11337588, PubMed:26456823). Interacts with the translation initiation factor EIF3S6 (PubMed:12220626). Interacts weakly with RBX1 (PubMed:11337588). Directly interacts with COP1 and 14-3-3 protein sigma/SFN (PubMed:21625211). Interacts with ERCC6 (PubMed:26030138).
    • (Microbial infection) Interacts with the HIV-1 protein Vpr.
    SequenceCaution:
    • Sequence=AAD03469.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COPS6 Gene

neXtProt entry for COPS6 Gene

Post-translational modifications for COPS6 Gene

  • Ubiquitination at Lys75, Lys102, Lys117, Lys153, Lys229, Lys236, Lys243, and Lys308
  • Modification sites at PhosphoSitePlus

Other Protein References for COPS6 Gene

No data available for DME Specific Peptides for COPS6 Gene

Domains & Families for COPS6 Gene

Gene Families for COPS6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for COPS6 Gene

InterPro:
Blocks:
  • Mov34 family
ProtoNet:

Suggested Antigen Peptide Sequences for COPS6 Gene

GenScript: Design optimal peptide antigens:
  • Vpr-interacting protein (CSN6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L5N1

UniProtKB/Swiss-Prot:

CSN6_HUMAN :
  • Belongs to the peptidase M67A family. CSN6 subfamily.
Family:
  • Belongs to the peptidase M67A family. CSN6 subfamily.
genes like me logo Genes that share domains with COPS6: view

Function for COPS6 Gene

Molecular function for COPS6 Gene

UniProtKB/Swiss-Prot Function:
Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Has some glucocorticoid receptor-responsive activity. Stabilizes COP1 through reducing COP1 auto-ubiquitination and decelerating COP1 turnover rate, hence regulates the ubiquitination of COP1 targets.

Phenotypes From GWAS Catalog for COPS6 Gene

Gene Ontology (GO) - Molecular Function for COPS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16169070
genes like me logo Genes that share ontologies with COPS6: view
genes like me logo Genes that share phenotypes with COPS6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPS6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COPS6 Gene

Localization for COPS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPS6 Gene

Nucleus. Cytoplasm.
Cytoplasm, perinuclear region. Note=(Microbial infection) The interaction with HIV-1 Vpr protein possibly leads its translocation to a perinuclear region. {ECO:0000269 PubMed:9520381}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COPS6 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 3
plasma membrane 1
extracellular 1
mitochondrion 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COPS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0008180 COP9 signalosome IEA,IDA 18850735
genes like me logo Genes that share ontologies with COPS6: view

Pathways & Interactions for COPS6 Gene

genes like me logo Genes that share pathways with COPS6: view

SIGNOR curated interactions for COPS6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for COPS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000338 protein deneddylation IEA,IDA 19141280
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0016032 viral process IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with COPS6: view

Drugs & Compounds for COPS6 Gene

No Compound Related Data Available

Transcripts for COPS6 Gene

mRNA/cDNA for COPS6 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COPS6

Alternative Splicing Database (ASD) splice patterns (SP) for COPS6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - - - - - - -
SP5: - -
SP6: - - - - -
SP7: -
SP8:
SP9:

Relevant External Links for COPS6 Gene

GeneLoc Exon Structure for
COPS6

Expression for COPS6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COPS6 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COPS6 Gene



Protein tissue co-expression partners for COPS6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COPS6

SOURCE GeneReport for Unigene cluster for COPS6 Gene:

Hs.15591

mRNA Expression by UniProt/SwissProt for COPS6 Gene:

Q7L5N1-CSN6_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for COPS6 Gene

  • Liver(4.4)
  • Nervous system(3.9)
  • Skin(3.4)
  • Lung(3.2)
  • Intestine(2.8)
  • Muscle(2.6)
  • Kidney(2.4)
  • Thyroid gland(2.2)
  • Heart(2.2)
  • Pancreas(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with COPS6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPS6 Gene

Orthologs for COPS6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COPS6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COPS6 30 31
  • 99.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 96 (a)
OneToMany
-- 31
  • 96 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia COPS6 30 31
  • 93.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cops6 30 17 31
  • 93.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cops6 30
  • 92.72 (n)
Dog
(Canis familiaris)
Mammalia COPS6 30 31
  • 92.68 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 23 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 98 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cops6 30
  • 79.57 (n)
Str.1495 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24180 30
Zebrafish
(Danio rerio)
Actinopterygii cops6 30
  • 81.26 (n)
COPS6 31
  • 66 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CSN6 30 31
  • 63.51 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008156 30
  • 62.92 (n)
Worm
(Caenorhabditis elegans)
Secernentea csn-6 30 31
  • 48.24 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN8 31
  • 20 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CSN6A 30
  • 51.59 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0500000 30
  • 52.53 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2251 31
  • 59 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU07019 30
  • 50.43 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8166 30
Species where no ortholog for COPS6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for COPS6 Gene

ENSEMBL:
Gene Tree for COPS6 (if available)
TreeFam:
Gene Tree for COPS6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COPS6: view image

Paralogs for COPS6 Gene

Paralogs for COPS6 Gene

genes like me logo Genes that share paralogs with COPS6: view

Variants for COPS6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COPS6 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs193921011 Uncertain Significance: Malignant tumor of prostate 100,091,134(+) A/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for COPS6 Gene

Structural Variations from Database of Genomic Variants (DGV) for COPS6 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
nsv469687 CNV loss 16826518
nsv510966 OTHER complex 20534489
nsv607931 CNV loss 21841781

Variation tolerance for COPS6 Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COPS6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPS6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COPS6 Gene

Disorders for COPS6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COPS6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, complementation group e
  • xpe
- elite association - COSMIC cancer census association via MalaCards
Search COPS6 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with COPS6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COPS6 Gene

Publications for COPS6 Gene

  1. Carboxyl terminus of hVIP/mov34 is critical for HIV-1-Vpr interaction and glucocorticoid-mediated signaling. (PMID: 12237292) Ramanathan MP … Weiner DB (The Journal of biological chemistry 2002) 3 4 23
  2. Association of the mammalian proto-oncoprotein Int-6 with the three protein complexes eIF3, COP9 signalosome and 26S proteasome. (PMID: 12220626) Hoareau Alves K … Jalinot P (FEBS letters 2002) 3 4 23
  3. HIV-1 Vpr interacts with a human 34-kDa mov34 homologue, a cellular factor linked to the G2/M phase transition of the mammalian cell cycle. (PMID: 9520381) Mahalingam S … Weiner DB (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 23
  4. A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. (PMID: 9535219) Seeger M … Dubiel W (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1998) 3 4 23
  5. Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics. (PMID: 26030138) Nicolai S … Proietti-De-Santis L (PloS one 2015) 3 4

Products for COPS6 Gene

  • Signalway Proteins for COPS6

Sources for COPS6 Gene