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Aliases for COPS7A Gene

Aliases for COPS7A Gene

  • COP9 Signalosome Subunit 7A 2 3 5
  • JAB1-Containing Signalosome Subunit 7a 3 4
  • Dermal Papilla-Derived Protein 10 3 4
  • CSN7A 3 4
  • SGN7a 3 4
  • COP9 (Constitutive Photomorphogenic, Arabidopsis, Homolog) Subunit 7A 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 7A (Arabidopsis) 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 7A 3
  • COP9 Signalosome Complex Subunit 7a 3
  • COP9 Complex Subunit 7a 3
  • Signalosome Subunit 7a 4
  • DERP10 4
  • CSN7 3

External Ids for COPS7A Gene

Previous GeneCards Identifiers for COPS7A Gene

  • GC12M006747
  • GC12M006872
  • GC12P006712
  • GC12P006703
  • GC12P006833

Summaries for COPS7A Gene

Entrez Gene Summary for COPS7A Gene

  • This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]

GeneCards Summary for COPS7A Gene

COPS7A (COP9 Signalosome Subunit 7A) is a Protein Coding gene. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Clathrin-mediated endocytosis. An important paralog of this gene is COPS7B.

UniProtKB/Swiss-Prot for COPS7A 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, JUN, I-kappa-B-alpha/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 COPS7A Gene

Additional gene information for COPS7A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COPS7A Gene

Genomics for COPS7A Gene

Regulatory Elements for COPS7A Gene

Enhancers for COPS7A 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
GH12H006762 1.8 FANTOM5 ENCODE dbSUPER 5.7 +42.7 42664 7 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ENSG00000219410 ZNF384 CHD4 NCAPD2 EMG1 ENSG00000247853 PTPN6 SPSB2 GDF3 TNFRSF1A
GH12H006722 1.2 ENCODE 8 +0.3 312 2 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF384 CHD4 ENSG00000219410 NOP2 ATN1 ENSG00000247853 NCAPD2 GNB3 SPSB2 CD4
GH12H006751 1.1 ENCODE 7.4 +29.4 29414 2 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF416 ZNF143 CHD4 ZNF384 ENSG00000247853 ENSG00000219410 ATN1 NOP2 MLF2 EMG1 ENSG00000272173 PEX5
GH12H006735 1.1 Ensembl ENCODE 6.3 +12.1 12107 1 INSM2 ARID4B RAD21 YY1 SCRT2 ZNF143 RUNX3 MIXL1 ZNF654 ZEB2 PTMS MLF2 LAG3 CD4 GPR162 P3H3 ENSG00000219410 ING4 ACRBP CHD4
GH12H006849 1.7 FANTOM5 ENCODE dbSUPER 1.7 +128.7 128707 5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SPSB2 ZNF384 CHD4 NOP2 TNFRSF1A EMG1 ENSG00000247853 CDCA3 TPI1 USP5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COPS7A on UCSC Golden Path with GeneCards custom track

Promoters for COPS7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000048340 259 1601 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for COPS7A Gene

Chromosome:
12
Start:
6,723,741 bp from pter
End:
6,731,875 bp from pter
Size:
8,135 bases
Orientation:
Plus strand

Genomic View for COPS7A Gene

Genes around COPS7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPS7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPS7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COPS7A Gene

Proteins for COPS7A Gene

  • Protein details for COPS7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBW8-CSN7A_HUMAN
    Recommended name:
    COP9 signalosome complex subunit 7a
    Protein Accession:
    Q9UBW8
    Secondary Accessions:
    • A8K9A6
    • Q9NVX3
    • Q9UJW4

    Protein attributes for COPS7A Gene

    Size:
    275 amino acids
    Molecular mass:
    30277 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 COPS1, COPS2, COPS4, COPS5, COPS6 and COPS8. Interacts with PMF1 (PubMed:12020345). Interacts with the translation initiation factor EIF3S6 (PubMed:12220626). Interacts with CK2 and PKD (PubMed:12628923). Interacts directly with ID3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for COPS7A Gene

neXtProt entry for COPS7A Gene

Post-translational modifications for COPS7A Gene

No data available for DME Specific Peptides for COPS7A Gene

Domains & Families for COPS7A Gene

Gene Families for COPS7A Gene

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

Protein Domains for COPS7A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UBW8

UniProtKB/Swiss-Prot:

CSN7A_HUMAN :
  • Belongs to the CSN7/EIF3M family. CSN7 subfamily.
Family:
  • Belongs to the CSN7/EIF3M family. CSN7 subfamily.
genes like me logo Genes that share domains with COPS7A: view

Function for COPS7A Gene

Molecular function for COPS7A 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, JUN, I-kappa-B-alpha/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 COPS7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24421388
genes like me logo Genes that share ontologies with COPS7A: view
genes like me logo Genes that share phenotypes with COPS7A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COPS7A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COPS7A Gene

Localization for COPS7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPS7A 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 COPS7A gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COPS7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IDA --
GO:0008180 COP9 signalosome IDA,IEA 18850735
genes like me logo Genes that share ontologies with COPS7A: view

Pathways & Interactions for COPS7A Gene

genes like me logo Genes that share pathways with COPS7A: view

Gene Ontology (GO) - Biological Process for COPS7A 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:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with COPS7A: view

No data available for SIGNOR curated interactions for COPS7A Gene

Drugs & Compounds for COPS7A Gene

No Compound Related Data Available

Transcripts for COPS7A Gene

Unigene Clusters for COPS7A Gene

COP9 signalosome subunit 7A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COPS7A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for COPS7A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b · 13c ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - -
SP14: - - - -
SP15: - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - -
SP17: - - - - -
SP18:
SP19:

ExUns: 13d · 13e ^ 14a · 14b
SP1:
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for COPS7A Gene

GeneLoc Exon Structure for
COPS7A
ECgene alternative splicing isoforms for
COPS7A

Expression for COPS7A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COPS7A Gene

Protein differential expression in normal tissues from HIPED for COPS7A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COPS7A Gene



Protein tissue co-expression partners for COPS7A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COPS7A Gene:

COPS7A

SOURCE GeneReport for Unigene cluster for COPS7A Gene:

Hs.530823

mRNA Expression by UniProt/SwissProt for COPS7A Gene:

Q9UBW8-CSN7A_HUMAN
Tissue specificity: Widely expressed. Expressed at high level in brain, heart and skeletal muscle.

Evidence on tissue expression from TISSUES for COPS7A Gene

  • Skin(4.8)
  • Nervous system(4.4)
  • Liver(4.3)
  • Lung(2.9)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with COPS7A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPS7A Gene

Orthologs for COPS7A Gene

This gene was present in the common ancestor of animals.

Orthologs for COPS7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COPS7A 33 34
  • 99.52 (n)
oppossum
(Monodelphis domestica)
Mammalia COPS7A 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COPS7A 33 34
  • 92.36 (n)
rat
(Rattus norvegicus)
Mammalia Cops7a 33
  • 91.39 (n)
mouse
(Mus musculus)
Mammalia Cops7a 33 16 34
  • 91.27 (n)
cow
(Bos Taurus)
Mammalia COPS7A 33 34
  • 90.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COPS7A 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves COPS7A 33 34
  • 76.85 (n)
lizard
(Anolis carolinensis)
Reptilia COPS7A 34
  • 81 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cops7a 33 34
  • 61.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta CSN7b 35
  • 43 (a)
CSN7 34
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9499 34
  • 43 (a)
OneToMany
Species where no ortholog for COPS7A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COPS7A Gene

ENSEMBL:
Gene Tree for COPS7A (if available)
TreeFam:
Gene Tree for COPS7A (if available)

Paralogs for COPS7A Gene

Paralogs for COPS7A Gene

(1) SIMAP similar genes for COPS7A Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with COPS7A: view

Variants for COPS7A Gene

Sequence variations from dbSNP and Humsavar for COPS7A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000966919 -- 6,726,419(+) CAAGA(C/T)GGCAA intron-variant
rs1001415163 -- 6,730,757(+) TGAGC(G/T)GAGGG reference, missense
rs1001808319 -- 6,727,061(+) GCTGA(C/G)CACAG intron-variant
rs1002867490 -- 6,724,334(+) GGGTG(C/G)ACACC intron-variant, utr-variant-5-prime
rs1002897111 -- 6,724,159(+) TAGCG(G/T)CCCGC intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for COPS7A Gene

Variant ID Type Subtype PubMed ID
esv2761725 CNV gain 21179565
esv3580394 CNV gain 25503493
nsv524621 CNV loss 19592680
nsv525884 CNV loss 19592680
nsv557257 CNV loss 21841781
nsv832322 CNV loss 17160897
nsv832323 CNV loss 17160897

Variation tolerance for COPS7A Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COPS7A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPS7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COPS7A Gene

Disorders for COPS7A Gene

Relevant External Links for COPS7A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COPS7A

No disorders were found for COPS7A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COPS7A Gene

Publications for COPS7A Gene

  1. 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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. 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) 3 4 60
  5. Protein kinase CK2 and protein kinase D are associated with the COP9 signalosome. (PMID: 12628923) Uhle S … Dubiel W (The EMBO journal 2003) 3 4 60

Products for COPS7A Gene

Sources for COPS7A Gene

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