Free for academic non-profit institutions. Other users need a Commercial license

Aliases for COPS3 Gene

Aliases for COPS3 Gene

  • COP9 Signalosome Subunit 3 2 3 5
  • JAB1-Containing Signalosome Subunit 3 3 4
  • Signalosome Subunit 3 3 4
  • CSN3 3 4
  • SGN3 3 4
  • COP9 (Constitutive Photomorphogenic, Arabidopsis, Homolog) Subunit 3 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 3 (Arabidopsis) 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 3 3
  • COP9 Signalosome Complex Subunit 3 3
  • COP9 Complex Subunit 3 3

External Ids for COPS3 Gene

Previous GeneCards Identifiers for COPS3 Gene

  • GC17M017465
  • GC17M018509
  • GC17M017093
  • GC17M017350
  • GC17M017090
  • GC17M016903
  • GC17M017151

Summaries for COPS3 Gene

Entrez Gene Summary for COPS3 Gene

  • 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]

GeneCards Summary for COPS3 Gene

COPS3 (COP9 Signalosome Subunit 3) is a Protein Coding gene. Diseases associated with COPS3 include Smith-Magenis Syndrome. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis.

UniProtKB/Swiss-Prot for COPS3 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 COPS3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COPS3 Gene

Genomics for COPS3 Gene

Regulatory Elements for COPS3 Gene

Enhancers for COPS3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G017040 1.6 FANTOM5 ENCODE dbSUPER 13.1 +237.4 237440 6.1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 FLCN PLD6 MPRIP-AS1 SMCR5 ZNF624 MPRIP ZNF287 COPS3 RNU6-767P MED9
GH17G017351 1.2 Ensembl ENCODE 11 -70.9 -70914 2.3 ATF1 FOXA2 ZFP64 GLIS2 FOS KDM4B SP5 GTF2B ZNF623 ZNF518A DRG2 MED9 LOC100419436 COPS3 RPL13P12 UPF3AP1 SMCR8 SMCR5 GC17P017341
GH17G017181 0.8 Ensembl ENCODE 15.4 +99.1 99061 2.1 ZFHX2 EGR1 EED IKZF1 TCF7 EGR2 FLCN COPS3 PIR42831 ENSG00000278864
GH17G017279 1.1 ENCODE 11.1 +0.4 395 2.6 PKNOX1 CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 FLCN NT5M MPRIP-AS1 COPS3 PLD6 ATPAF2 GC17P017245
GH17G017302 1.5 FANTOM5 ENCODE 7.9 -23.1 -23078 3.7 HDGF PKNOX1 CREB3L1 MLX ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 NT5M FLCN COPS3 PLD6 GC17M017313
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COPS3 on UCSC Golden Path with GeneCards custom track

Promoters for COPS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000091879 303 1601 PKNOX1 CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143

Genomic Location for COPS3 Gene

Chromosome:
17
Start:
17,246,624 bp from pter
End:
17,281,303 bp from pter
Size:
34,680 bases
Orientation:
Minus strand

Genomic View for COPS3 Gene

Genes around COPS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COPS3 Gene

Proteins for COPS3 Gene

  • Protein details for COPS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNS2-CSN3_HUMAN
    Recommended name:
    COP9 signalosome complex subunit 3
    Protein Accession:
    Q9UNS2
    Secondary Accessions:
    • B2R683
    • B4DY81
    • O43191
    • Q7LDR6

    Protein attributes for COPS3 Gene

    Size:
    423 amino acids
    Molecular mass:
    47873 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 COPS1, COPS4, COPS8 and COPS9 isoform 1 (PubMed:18850735, PubMed:26456823). Interacts with CK2 and PKD (PubMed:12628923). Interacts with the translation initiation factor EIF3S6 and IKBKG (PubMed:11418127, PubMed:12220626).
    Miscellaneous:
    • Amplified and overexpressed in some osteosarcomas (OS), suggesting that it may participate in TP53 degradation in OS.
    SequenceCaution:
    • Sequence=AAC14197.1; Type=Frameshift; Positions=5; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COPS3 Gene

    Alternative splice isoforms for COPS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COPS3 Gene

Post-translational modifications for COPS3 Gene

  • Ubiquitination at Lys30, isoforms=2125, Lys243, Lys254, isoforms=2281, isoforms=2296, isoforms=2312, isoforms=2366, Lys382, Lys391, and isoforms=2406
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COPS3 Gene

Domains & Families for COPS3 Gene

Gene Families for COPS3 Gene

Suggested Antigen Peptide Sequences for COPS3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UNS2

UniProtKB/Swiss-Prot:

CSN3_HUMAN :
  • Belongs to the CSN3 family.
Family:
  • Belongs to the CSN3 family.
genes like me logo Genes that share domains with COPS3: view

Function for COPS3 Gene

Molecular function for COPS3 Gene

GENATLAS Biochemistry:
COP9 (constitutive photomorphogenic,Arabidopsis) homolog subunit 3,ubiquitously expressed,predominantly in cardiac and skeletal muscle,involved in signal transduction,within the Smith-Magenis critical region
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.

Gene Ontology (GO) - Molecular Function for COPS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11418127
genes like me logo Genes that share ontologies with COPS3: view
genes like me logo Genes that share phenotypes with COPS3: view

Animal Models for COPS3 Gene

MGI Knock Outs for COPS3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COPS3 Gene

Localization for COPS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPS3 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 COPS3 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COPS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0005737 cytoplasm TAS 9535219
GO:0005829 cytosol TAS,IDA --
GO:0008180 COP9 signalosome IEA,IDA 18850735
genes like me logo Genes that share ontologies with COPS3: view

Pathways & Interactions for COPS3 Gene

genes like me logo Genes that share pathways with COPS3: view

SIGNOR curated interactions for COPS3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for COPS3 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:0001701 in utero embryonic development IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006511 ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with COPS3: view

Drugs & Compounds for COPS3 Gene

No Compound Related Data Available

Transcripts for COPS3 Gene

Unigene Clusters for COPS3 Gene

COP9 signalosome subunit 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COPS3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - -
SP5: -
SP6: - -
SP7: - - - - - -
SP8:
SP9: - - -
SP10: -
SP11: - -
SP12:

ExUns: 14b · 14c · 14d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for COPS3 Gene

GeneLoc Exon Structure for
COPS3
ECgene alternative splicing isoforms for
COPS3

Expression for COPS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COPS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COPS3 Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COPS3 Gene



Protein tissue co-expression partners for COPS3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COPS3 Gene:

COPS3

SOURCE GeneReport for Unigene cluster for COPS3 Gene:

Hs.6076

mRNA Expression by UniProt/SwissProt for COPS3 Gene:

Q9UNS2-CSN3_HUMAN
Tissue specificity: Widely expressed. Expressed at high level in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for COPS3 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Blood(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with COPS3: view

Primer Products

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPS3 Gene

Orthologs for COPS3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COPS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COPS3 34 35
  • 99.76 (n)
oppossum
(Monodelphis domestica)
Mammalia COPS3 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COPS3 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COPS3 34 35
  • 93.7 (n)
mouse
(Mus musculus)
Mammalia Cops3 34 16 35
  • 91.88 (n)
rat
(Rattus norvegicus)
Mammalia Cops3 34
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia COPS3 34 35
  • 86.6 (n)
chicken
(Gallus gallus)
Aves COPS3 34 35
  • 87.63 (n)
lizard
(Anolis carolinensis)
Reptilia COPS3 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cops3 34
  • 82.27 (n)
Str.11176 34
African clawed frog
(Xenopus laevis)
Amphibia cops3-prov 34
zebrafish
(Danio rerio)
Actinopterygii cops3 34 35
  • 78.41 (n)
wufk59f01 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.684 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006445 34
  • 57.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CSN3 36 34 35
  • 56.24 (n)
worm
(Caenorhabditis elegans)
Secernentea csn-3 35
  • 19 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons COP13 34
  • 48.92 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7012 34
rice
(Oryza sativa)
Liliopsida Os08g0119000 34
  • 52.45 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.2898 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1915 34
Species where no ortholog for COPS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for COPS3 Gene

ENSEMBL:
Gene Tree for COPS3 (if available)
TreeFam:
Gene Tree for COPS3 (if available)

Paralogs for COPS3 Gene

Pseudogenes.org Pseudogenes for COPS3 Gene

genes like me logo Genes that share paralogs with COPS3: view

No data available for Paralogs for COPS3 Gene

Variants for COPS3 Gene

Sequence variations from dbSNP and Humsavar for COPS3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000022699 -- 17,279,982(+) AGTCC(C/T)GGCCG intron-variant
rs1000181907 -- 17,249,486(+) ACCAG(C/G)CTAAT intron-variant
rs1000292884 -- 17,276,413(+) CTATT(C/T)TGTTT intron-variant
rs1000385602 -- 17,255,237(+) GGAGG(C/T)TGCAG intron-variant
rs1000406382 -- 17,276,130(+) CCACT(C/G)TTGTT intron-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for COPS3 Gene

Variant ID Type Subtype PubMed ID
esv3640124 CNV gain 21293372
nsv155 OTHER inversion 15895083
nsv469777 CNV gain 16826518
nsv499114 OTHER inversion 21111241
nsv833380 CNV loss 17160897
nsv833382 CNV loss 17160897
nsv9499 CNV gain 18304495

Variation tolerance for COPS3 Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COPS3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COPS3 Gene

Disorders for COPS3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for COPS3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • 17p11.2 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search COPS3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for COPS3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COPS3
genes like me logo Genes that share disorders with COPS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COPS3 Gene

Publications for COPS3 Gene

  1. 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 Lett. 2002) 3 4 22 64
  2. 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. (PMID: 10191102) Potocki L. … Lupski J.R. (Genomics 1999) 2 3 4 64
  3. A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. (PMID: 9535219) Seeger M. … Dubiel W. (FASEB J. 1998) 2 3 4 64
  4. CSNAP Is a Stoichiometric Subunit of the COP9 Signalosome. (PMID: 26456823) Rozen S. … Sharon M. (Cell Rep 2015) 3 4 64
  5. Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PMID: 18850735) Fang L. … Huang L. (J. Proteome Res. 2008) 3 4 64

Products for COPS3 Gene

Sources for COPS3 Gene

Content
Loading form....