Human Gene COPS6 (ENST00000303904.8_10) from GENCODE V47lift37
  Description: COP9 signalosome subunit 6 (from RefSeq NM_006833.5)
Gencode Transcript: ENST00000303904.8_10
Gencode Gene: ENSG00000168090.10_13
Transcript (Including UTRs)
   Position: hg19 chr7:99,686,592-99,689,810 Size: 3,219 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr7:99,686,614-99,689,412 Size: 2,799 Coding Exon Count: 10 

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 (chr7:99,686,592-99,689,810)mRNA (may differ from genome)Protein (327 aa)
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-  Comments and Description Text from UniProtKB
  ID: CSN6_HUMAN
DESCRIPTION: RecName: Full=COP9 signalosome complex subunit 6; Short=SGN6; Short=Signalosome subunit 6; AltName: Full=JAB1-containing signalosome subunit 6; AltName: Full=MOV34 homolog; AltName: Full=Vpr-interacting protein; Short=hVIP;
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, 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. Has some glucocorticoid receptor- responsive activity. Stabilizes RFWD2/COP1 through reducing RFWD2 auto-ubiquitination and decelerating RFWD2 turnover rate, hence regulates the ubiquitination of RFWD2 targets.
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 COPS2, COPS4, COPS5 and COPS7 (COPS7A or COPS7B). Interacts with the translation initiation factor EIF3S6. Interacts weakly with RBX1. Interacts with the HIV-1 protein Vpr. Directly interacts with RFWD2 and 14-3-3 protein sigma/SFN.
INTERACTION: Q9BX70:BTBD2; NbExp=2; IntAct=EBI-486838, EBI-710091; Q8NHY2:RFWD2; NbExp=3; IntAct=EBI-486838, EBI-1176214; P31947:SFN; NbExp=7; IntAct=EBI-486838, EBI-476295;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The interaction with HIV-1 Vpr protein possibly leads its translocation to a perinuclear region.
TISSUE SPECIFICITY: Widely expressed.
MISCELLANEOUS: Although strongly related to metalloprotease proteins, it lacks the JAMM motif that probably constitutes the catalytic center. Its function as protease is therefore unsure.
SIMILARITY: Belongs to the peptidase M67A family. CSN6 subfamily.
SIMILARITY: Contains 1 MPN (JAB/Mov34) domain.
SEQUENCE CAUTION: Sequence=AAD03469.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

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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: COPS6
Diseases sorted by gene-association score: hiv-1 (6)

-  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: 65.58 RPKM in Pituitary
Total median expression: 2716.23 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 -4.2022-0.191 Picture PostScript Text
3' UTR -119.70398-0.301 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
IPR000555 - JAB1_Mov34_MPN_PAD1
IPR024969 - Rpn11/EIF3F_C

Pfam Domains:
PF01398 - JAB1/Mov34/MPN/PAD-1 ubiquitin protease
PF13012 - Maintenance of mitochondrial structure and function

ModBase Predicted Comparative 3D Structure on Q7L5N1
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-  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 DetailsGene 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:0016032 viral process
GO:0043687 post-translational protein modification

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0008180 COP9 signalosome


-  Descriptions from all associated GenBank mRNAs
  LF384057 - JP 2014500723-A/191560: Polycomb-Associated Non-Coding RNAs.
AK312024 - Homo sapiens cDNA, FLJ92300, Homo sapiens COP9 subunit 6 (MOV34 homolog, 34 kD) (COPS6), mRNA.
AK295237 - Homo sapiens cDNA FLJ57370 complete cds, highly similar to COP9 signalosome complex subunit 6.
BC002520 - Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis), mRNA (cDNA clone MGC:1263 IMAGE:3140042), complete cds.
KJ893191 - Synthetic construct Homo sapiens clone ccsbBroadEn_02585 COPS6 gene, encodes complete protein.
CU678014 - Synthetic construct Homo sapiens gateway clone IMAGE:100020670 5' read COPS6 mRNA.
LF359979 - JP 2014500723-A/167482: Polycomb-Associated Non-Coding RNAs.
JD482336 - Sequence 463360 from Patent EP1572962.
U70735 - Homo sapiens 34 kDa Mov34 homolog mRNA, complete cds.
DQ894927 - Synthetic construct Homo sapiens clone IMAGE:100009387; FLH181644.01L; RZPDo839F08135D COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6) gene, encodes complete protein.
DQ891943 - Synthetic construct clone IMAGE:100004573; FLH181648.01X; RZPDo839F08136D COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6) gene, encodes complete protein.
LF359980 - JP 2014500723-A/167483: Polycomb-Associated Non-Coding RNAs.
JD556082 - Sequence 537106 from Patent EP1572962.
MA619634 - JP 2018138019-A/191560: Polycomb-Associated Non-Coding RNAs.
MA595556 - JP 2018138019-A/167482: Polycomb-Associated Non-Coding RNAs.
MA595557 - JP 2018138019-A/167483: Polycomb-Associated Non-Coding RNAs.

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

Protein Q7L5N1 (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: A4D2A3, CSN6, CSN6_HUMAN, ENST00000303904.1, ENST00000303904.2, ENST00000303904.3, ENST00000303904.4, ENST00000303904.5, ENST00000303904.6, ENST00000303904.7, HVIP, NM_006833, O15387, Q7L5N1, uc317nhz.1, uc317nhz.2
UCSC ID: ENST00000303904.8_10
RefSeq Accession: NM_006833.5
Protein: Q7L5N1 (aka CSN6_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.