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Aliases for COPS8 Gene

Aliases for COPS8 Gene

  • COP9 Signalosome Subunit 8 2 3 5
  • JAB1-Containing Signalosome Subunit 8 3 4
  • Signalosome Subunit 8 3 4
  • COP9 Homolog 3 4
  • HCOP9 3 4
  • CSN8 3 4
  • SGN8 3 4
  • COP9 Constitutive Photomorphogenic Homolog Subunit 8 (Arabidopsis) 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 8 3
  • COP9 Signalosome Complex Subunit 8 3
  • COP9 3

External Ids for COPS8 Gene

Previous GeneCards Identifiers for COPS8 Gene

  • GC02P238280
  • GC02P237776
  • GC02P237658
  • GC02P237993
  • GC02P229786

Summaries for COPS8 Gene

Entrez Gene Summary for COPS8 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. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

GeneCards Summary for COPS8 Gene

COPS8 (COP9 Signalosome Subunit 8) is a Protein Coding gene. Diseases associated with COPS8 include Xeroderma Pigmentosum, Complementation Group E and Familial Hypertension. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Vesicle-mediated transport.

UniProtKB/Swiss-Prot for COPS8 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/ICSBP, 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.

Gene Wiki entry for COPS8 Gene

Additional gene information for COPS8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COPS8 Gene

Genomics for COPS8 Gene

GeneHancer (GH) Regulatory Elements for COPS8 Gene

Promoters and enhancers for COPS8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I237084 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 556 +0.7 742 2.8 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 COPS8 ENSG00000227252 LOC93463 RBM44 ENSG00000224844
GH02I237154 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 7.4 +71.0 71029 4.2 CTCF PKNOX1 EBF1 IRF4 RAD21 POLR2A SMC3 ZNF143 ZSCAN29 FOS COPS8 COL6A3 MLPH LOC105373952 LOC105373953
GH02I237126 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.5 +42.5 42453 2.7 SIN3A GLI4 ZNF2 FOS SP3 TSHZ1 SMARCB1 GLIS1 WT1 SP7 MLPH COPS8 ENSG00000224844 LOC105373952
GH02I237177 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 6.8 +96.1 96088 8.3 FOXA2 ZBTB21 JUN SIN3A CTBP1 GATA3 FOSL2 FOS TCF7L2 REST LOC105373953 COL6A3 ENSG00000222022 COPS8 LOC105373952
GH02I237169 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 5.9 +86.3 86251 3.8 CTCF CEBPB YBX1 CEBPG EP300 RAD21 SP1 JUND CEBPA SMC3 ENSG00000222022 LOC105373953 COPS8 COL6A3 LOC105373952
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COPS8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COPS8 gene promoter:

Genomic Locations for COPS8 Gene

Genomic Locations for COPS8 Gene
chr2:237,085,312-237,100,466
(GRCh38/hg38)
Size:
15,155 bases
Orientation:
Plus strand
chr2:237,993,955-238,009,109
(GRCh37/hg19)

Genomic View for COPS8 Gene

Genes around COPS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COPS8 Gene

Proteins for COPS8 Gene

  • Protein details for COPS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99627-CSN8_HUMAN
    Recommended name:
    COP9 signalosome complex subunit 8
    Protein Accession:
    Q99627
    Secondary Accessions:
    • A8K1H6
    • Q53QS9

    Protein attributes for COPS8 Gene

    Size:
    209 amino acids
    Molecular mass:
    23226 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:11337588, PubMed:18850735, PubMed:26456823). In the complex, it probably interacts directly with COPS3, COPS4 and COPS7 (COPS7A or COPS7B) (PubMed:18850735).

    Three dimensional structures from OCA and Proteopedia for COPS8 Gene

    Alternative splice isoforms for COPS8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COPS8 Gene

Post-translational modifications for COPS8 Gene

  • Ubiquitination at posLast=1515, Lys65, and posLast=178178

Other Protein References for COPS8 Gene

No data available for DME Specific Peptides for COPS8 Gene

Domains & Families for COPS8 Gene

Gene Families for COPS8 Gene

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

Protein Domains for COPS8 Gene

Graphical View of Domain Structure for InterPro Entry

Q99627

UniProtKB/Swiss-Prot:

CSN8_HUMAN :
  • Belongs to the CSN8 family.
Family:
  • Belongs to the CSN8 family.
genes like me logo Genes that share domains with COPS8: view

Function for COPS8 Gene

Molecular function for COPS8 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/ICSBP, 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.

Phenotypes From GWAS Catalog for COPS8 Gene

Gene Ontology (GO) - Molecular Function for COPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20399188
genes like me logo Genes that share ontologies with COPS8: view
genes like me logo Genes that share phenotypes with COPS8: view

Animal Models for COPS8 Gene

MGI Knock Outs for COPS8:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COPS8 Gene

Localization for COPS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPS8 Gene

Cytoplasm. Nucleus.

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 COPS8 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 8689678
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IDA --
GO:0008180 COP9 signalosome IEA,IDA 9535219
genes like me logo Genes that share ontologies with COPS8: view

Pathways & Interactions for COPS8 Gene

genes like me logo Genes that share pathways with COPS8: view

Gene Ontology (GO) - Biological Process for COPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000338 protein deneddylation IDA 19141280
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0007250 activation of NF-kappaB-inducing kinase activity IMP 22992343
GO:0008285 negative regulation of cell proliferation IMP 23689509
genes like me logo Genes that share ontologies with COPS8: view

No data available for SIGNOR curated interactions for COPS8 Gene

Drugs & Compounds for COPS8 Gene

No Compound Related Data Available

Transcripts for COPS8 Gene

Unigene Clusters for COPS8 Gene

COP9 signalosome subunit 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COPS8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: - - - - - -
SP3: - -
SP4: - -
SP5: - -
SP6: - - - - - -
SP7: - - - - - -

Relevant External Links for COPS8 Gene

GeneLoc Exon Structure for
COPS8
ECgene alternative splicing isoforms for
COPS8

Expression for COPS8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COPS8 Gene

Protein differential expression in normal tissues from HIPED for COPS8 Gene

This gene is overexpressed in Bone marrow stromal cell (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COPS8 Gene



Protein tissue co-expression partners for COPS8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COPS8 Gene:

COPS8

SOURCE GeneReport for Unigene cluster for COPS8 Gene:

Hs.531713

Evidence on tissue expression from TISSUES for COPS8 Gene

  • Nervous system(4.9)
  • Skin(4.4)
  • Liver(4.2)
  • Heart(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with COPS8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPS8 Gene

Orthologs for COPS8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COPS8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COPS8 33
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
OneToMany
COPS8 33
  • 91.39 (n)
-- 34
  • 86 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia COPS8 34
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cops8 33 16 34
  • 89.95 (n)
cow
(Bos Taurus)
Mammalia COPS8 33 34
  • 89 (n)
rat
(Rattus norvegicus)
Mammalia Cops8 33
  • 88.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COPS8 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves COPS8 33 34
  • 82.45 (n)
lizard
(Anolis carolinensis)
Reptilia COPS8 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cops8 33
  • 75.13 (n)
MGC76051 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22566 33
zebrafish
(Danio rerio)
Actinopterygii cops8 33 34
  • 68.24 (n)
zgc56319 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008857 33
  • 48.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CSN8 33 34
  • 42.94 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons COP9 33
  • 47.31 (n)
rice
(Oryza sativa)
Liliopsida Os04g0428900 33
  • 45.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6909 34
  • 34 (a)
OneToOne
Species where no ortholog for COPS8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for COPS8 Gene

ENSEMBL:
Gene Tree for COPS8 (if available)
TreeFam:
Gene Tree for COPS8 (if available)

Paralogs for COPS8 Gene

Pseudogenes.org Pseudogenes for COPS8 Gene

genes like me logo Genes that share paralogs with COPS8: view

No data available for Paralogs for COPS8 Gene

Variants for COPS8 Gene

Sequence variations from dbSNP and Humsavar for COPS8 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000053513 -- 237,094,344(+) T/C intron_variant
rs1000130283 -- 237,098,110(+) T/A 3_prime_UTR_variant
rs1000172172 -- 237,085,550(+) G/C 5_prime_UTR_variant
rs1000455492 -- 237,097,560(+) C/T intron_variant
rs1000461488 -- 237,097,781(+) G/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for COPS8 Gene

Variant ID Type Subtype PubMed ID
nsv1000252 CNV loss 25217958

Variation tolerance for COPS8 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COPS8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPS8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COPS8 Gene

Disorders for COPS8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COPS8 Gene - From: GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, complementation group e
  • xpe
familial hypertension
  • genetic hypertension
- elite association - COSMIC cancer census association via MalaCards
Search COPS8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COPS8

genes like me logo Genes that share disorders with COPS8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COPS8 Gene

Publications for COPS8 Gene

  1. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. (PMID: 12732143) Groisman R … Nakatani Y (Cell 2003) 2 3 4 58
  2. 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 22 58
  3. The novel components of the Arabidopsis light signaling pathway may define a group of general developmental regulators shared by both animal and plant kingdoms. (PMID: 7634324) Chamovitz DA … Deng XW (Cell 1995) 2 3 4 58
  4. CSNAP Is a Stoichiometric Subunit of the COP9 Signalosome. (PMID: 26456823) Rozen S … Sharon M (Cell reports 2015) 3 4 58
  5. Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PMID: 18850735) Fang L … Huang L (Journal of proteome research 2008) 3 4 58

Products for COPS8 Gene

Sources for COPS8 Gene

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