Human Gene COPS8 (ENST00000354371.7_4) from GENCODE V47lift37
  Description: COP9 signalosome subunit 8, transcript variant 1 (from RefSeq NM_006710.5)
Gencode Transcript: ENST00000354371.7_4
Gencode Gene: ENSG00000198612.11_7
Transcript (Including UTRs)
   Position: hg19 chr2:237,994,532-238,009,117 Size: 14,586 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr2:237,994,608-238,006,385 Size: 11,778 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:237,994,532-238,009,117)mRNA (may differ from genome)Protein (209 aa)
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-  Comments and Description Text from UniProtKB
  ID: CSN8_HUMAN
DESCRIPTION: RecName: Full=COP9 signalosome complex subunit 8; Short=SGN8; Short=Signalosome subunit 8; AltName: Full=COP9 homolog; Short=hCOP9; AltName: Full=JAB1-containing signalosome subunit 8;
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.
SUBUNIT: Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COP6, COPS7 (COPS7A or COPS7B) and COPS8. In the complex, it probably interacts directly with COPS3, COPS4 and COPS7 (COPS7A or COPS7B).
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
SIMILARITY: Belongs to the CSN8 family.
SIMILARITY: Contains 1 PCI domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: COPS8
Diseases sorted by gene-association score: familial hypertension (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.29 RPKM in Cells - Cultured fibroblasts
Total median expression: 696.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.1076-0.501 Picture PostScript Text
3' UTR -652.202732-0.239 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019280 - COP9_signalosome_subunit_CSN8

Pfam Domains:
PF10075 - CSN8/PSMD8/EIF3K family

SCOP Domains:
160477 - PA1123-like

ModBase Predicted Comparative 3D Structure on Q99627
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000338 protein deneddylation
GO:0000715 nucleotide-excision repair, DNA damage recognition
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0007250 activation of NF-kappaB-inducing kinase activity
GO:0008285 negative regulation of cell proliferation
GO:0010387 COP9 signalosome assembly
GO:0043687 post-translational protein modification

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0008180 COP9 signalosome
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC036499 - Homo sapiens COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis), mRNA (cDNA clone MGC:43256 IMAGE:5264527), complete cds.
LF205300 - JP 2014500723-A/12803: Polycomb-Associated Non-Coding RNAs.
AK294078 - Homo sapiens cDNA FLJ60469 complete cds, highly similar to COP9 signalosome complex subunit 8.
AK313437 - Homo sapiens cDNA, FLJ93976, highly similar to Homo sapiens COP9 homolog (COP9), mRNA.
AK289891 - Homo sapiens cDNA FLJ75974 complete cds, highly similar to Homo sapiens COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) (COPS8), transcript variant 2, mRNA.
BC067774 - Homo sapiens cDNA clone IMAGE:5265538.
AK308962 - Homo sapiens cDNA, FLJ99003.
U51205 - Homo sapiens COP9 signalosome subunit 8 CSN8 (CSN8) mRNA, complete cds.
BC003090 - Homo sapiens COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis), mRNA (cDNA clone MGC:1297 IMAGE:3503287), complete cds.
BC080617 - Homo sapiens COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis), mRNA (cDNA clone MGC:99545 IMAGE:6252628), complete cds.
JD458942 - Sequence 439966 from Patent EP1572962.
CU678366 - Synthetic construct Homo sapiens gateway clone IMAGE:100017595 5' read COPS8 mRNA.
CR456994 - Homo sapiens full open reading frame cDNA clone RZPDo834E075D for gene COPS8, COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis); complete cds, incl. stopcodon.
HQ448684 - Synthetic construct Homo sapiens clone IMAGE:100072126; CCSB003433_03 COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) (COPS8) gene, encodes complete protein.
KJ893165 - Synthetic construct Homo sapiens clone ccsbBroadEn_02559 COPS8 gene, encodes complete protein.
LF318953 - JP 2014500723-A/126456: Polycomb-Associated Non-Coding RNAs.
LF318954 - JP 2014500723-A/126457: Polycomb-Associated Non-Coding RNAs.
JD114635 - Sequence 95659 from Patent EP1572962.
LF318955 - JP 2014500723-A/126458: Polycomb-Associated Non-Coding RNAs.
JD414271 - Sequence 395295 from Patent EP1572962.
JD025271 - Sequence 6295 from Patent EP1572962.
LF318956 - JP 2014500723-A/126459: Polycomb-Associated Non-Coding RNAs.
JD184385 - Sequence 165409 from Patent EP1572962.
JD224891 - Sequence 205915 from Patent EP1572962.
JD316519 - Sequence 297543 from Patent EP1572962.
JD559481 - Sequence 540505 from Patent EP1572962.
LF318957 - JP 2014500723-A/126460: Polycomb-Associated Non-Coding RNAs.
JD269226 - Sequence 250250 from Patent EP1572962.
MA440877 - JP 2018138019-A/12803: Polycomb-Associated Non-Coding RNAs.
MA554530 - JP 2018138019-A/126456: Polycomb-Associated Non-Coding RNAs.
MA554531 - JP 2018138019-A/126457: Polycomb-Associated Non-Coding RNAs.
MA554532 - JP 2018138019-A/126458: Polycomb-Associated Non-Coding RNAs.
MA554533 - JP 2018138019-A/126459: Polycomb-Associated Non-Coding RNAs.
MA554534 - JP 2018138019-A/126460: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99627 (Reactome details) participates in the following event(s):

R-HSA-8863721 NEDD8-STON binds TOR1 hexamer and COP9 complex
R-HSA-5691006 XPC:RAD23:CETN2 and UV-DDB bind distorted dsDNA site
R-HSA-6781833 ERCC8 (CSA) binds stalled RNA Pol II
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956045 COP9 signalosome deneddylates nuclear CRL4 E3 ubiquitin ligase complex
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-5696394 DNA Damage Recognition in GG-NER
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8951664 Neddylation
R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER)
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-199991 Membrane Trafficking
R-HSA-597592 Post-translational protein modification
R-HSA-5696398 Nucleotide Excision Repair
R-HSA-5653656 Vesicle-mediated transport
R-HSA-392499 Metabolism of proteins
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: A8K1H6, CSN8, CSN8_HUMAN, ENST00000354371.1, ENST00000354371.2, ENST00000354371.3, ENST00000354371.4, ENST00000354371.5, ENST00000354371.6, NM_006710, Q53QS9, Q99627, uc317yoz.1, uc317yoz.2
UCSC ID: ENST00000354371.7_4
RefSeq Accession: NM_006710.5
Protein: Q99627 (aka CSN8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.