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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 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 and Cerebral Palsy. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around COPS3 on UCSC Golden Path with GeneCards custom track

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) and COPS8. In the complex, it probably interacts directly with COPS1, COPS4 and COPS8. Interacts with CK2 and PKD. Interacts with the translation initiation factor EIF3S6 and IKBKG.
    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

Proteomics data for COPS3 Gene at MOPED

Post-translational modifications for COPS3 Gene

  • Ubiquitination at Lys 30, Lys 125, Lys 243, Lys 254, Lys 281, Lys 296, Lys 312, Lys 366, Lys 382, Lys 391, and Lys 406
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COPS3 Gene

Domains & Families for COPS3 Gene

Gene Families for COPS3 Gene

Protein Domains for COPS3 Gene

Suggested Antigen Peptide Sequences for COPS3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UNS2

UniProtKB/Swiss-Prot:

CSN3_HUMAN :
  • Contains 1 PCI domain.
  • Belongs to the CSN3 family.
Domain:
  • Contains 1 PCI domain.
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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for COPS3 Gene COMPARTMENTS Subcellular localization image for COPS3 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for COPS3 Gene

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: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 --
GO:0007165 signal transduction TAS 9535219
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:

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 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, MOPED, and MaxQB for COPS3 Gene



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.
genes like me logo Genes that share expression patterns with COPS3: view

Protein tissue co-expression partners for COPS3 Gene

- Elite partner

Primer Products

No data available for Protein differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia COPS3 35
  • 86.6 (n)
  • 98.11 (a)
COPS3 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COPS3 35
  • 93.7 (n)
  • 99.76 (a)
COPS3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cops3 35
  • 91.88 (n)
  • 99.53 (a)
Cops3 16
Cops3 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COPS3 35
  • 99.76 (n)
  • 100 (a)
COPS3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cops3 35
  • 91.25 (n)
  • 99.76 (a)
oppossum
(Monodelphis domestica)
Mammalia COPS3 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COPS3 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves COPS3 35
  • 87.63 (n)
  • 98.58 (a)
COPS3 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COPS3 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cops3 35
  • 82.27 (n)
  • 94.8 (a)
Str.11176 35
African clawed frog
(Xenopus laevis)
Amphibia cops3-prov 35
zebrafish
(Danio rerio)
Actinopterygii cops3 35
  • 78.41 (n)
  • 93.38 (a)
wufk59f01 35
cops3 36
  • 95 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.684 35
fruit fly
(Drosophila melanogaster)
Insecta CSN3 37
  • 51 (a)
CSN3 35
  • 56.24 (n)
  • 53.79 (a)
CSN3 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006445 35
  • 57.29 (n)
  • 56.26 (a)
worm
(Caenorhabditis elegans)
Secernentea csn-3 36
  • 19 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons COP13 35
  • 48.92 (n)
  • 39.04 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7012 35
rice
(Oryza sativa)
Liliopsida Os08g0119000 35
  • 52.45 (n)
  • 44.67 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.2898 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1915 35
Species with no ortholog for COPS3:
  • 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
rs8511 -- 17,247,077(-) TGAGC(C/G/T)AAACA utr-variant-3-prime
rs15316 -- 17,262,020(-) CTTGG(A/C/T)AAAGT reference, synonymous-codon
rs1029829 -- 17,280,766(+) GCGGT(C/G)CGCCA intron-variant, upstream-variant-2KB
rs1029830 -- 17,280,783(+) GAAGG(A/C)AAGAG intron-variant, upstream-variant-2KB
rs1029832 -- 17,281,431(+) CACTT(C/G)TGAAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
nsv833380 CNV Loss 17160897
nsv833382 CNV Loss 17160897
nsv469777 CNV Complex 16826518
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for COPS3 Gene

Disorders for COPS3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • smith magenis syndrome
cerebral palsy
  • mixed cerebral palsy
kabuki syndrome 1
  • kabuki 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. 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 67
  2. COPS3 amplification and clinical outcome in osteosarcoma. (PMID: 17366602) Yan T. … Andrulis I.L. (Cancer 2007) 3 23
  3. Myeloid leukemia factor 1 regulates p53 by suppressing COP1 via COP9 signalosome subunit 3. (PMID: 15861129) Yoneda-Kato N. … Kato J.-Y. (EMBO J. 2005) 3 23
  4. 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 23
  5. 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

Products for COPS3 Gene

Sources for COPS3 Gene

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