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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COPS6 Gene

protein-coding   GIFtS: 56
GCID: GC07P099686

COP9 Signalosome Subunit 6

(Previous name: COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis))
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
COP9 Signalosome Subunit 61 2     COP9 Subunit 6 (MOV34 Homolog1
Signalosome Subunit 62 3     H_NH0506M12.122
Vpr-Interacting Protein2 3     MOV34-34KD2
CSN62 3     COP9 Constitutive Photomorphogenic Homolog Subunit 62
SGN62 3     COP9 Signalosome Complex Subunit 62
hVIP2 3     COP9 Subunit 6 (MOV34 Homolog, 34 KD)2
JAB1-Containing Signalosome Subunit 62 3     MOV34 Homolog, 34 KD2
34 KD)1     HVIP3
COP9 Constitutive Photomorphogenic Homolog Subunit 6 (Arabidopsis)1     MOV34 Homolog3

External Ids:    HGNC: 217491   Entrez Gene: 109802   Ensembl: ENSG000001680907   OMIM: 6147295   UniProtKB: Q7L5N13   

Export aliases for COPS6 gene to outside databases

Previous GC identifers: GC07P098221 GC07P099284 GC07P099298 GC07P099297 GC07P099331 GC07P099524 GC07P094322


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COPS6 Gene:
The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein
complex that functions as an important regulator in multiple signaling pathways. The structure and function of
COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been
shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases.
This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of
cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. (provided by RefSeq, Jul
2008)

GeneCards Summary for COPS6 Gene: 
COPS6 (COP9 signalosome subunit 6) is a protein-coding gene. Diseases associated with COPS6 include microphthalmia syndromic 6, and hereditary renal cell carcinoma, and among its related super-pathways are NOD-like receptor signaling pathway. GO annotations related to this gene include protein binding. An important paralog of this gene is PSMD7.

UniProtKB/Swiss-Prot: CSN6_HUMAN, Q7L5N1
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

Gene Wiki entry for COPS6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COPS6 gene promoter:
         Pax-6   Arnt   NF-AT   NF-AT4   POU2F1   NF-AT2   POU2F1a   SEF-1 (1)   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOPS6 promoter sequence
   Search SABiosciences Chromatin IP Primers for COPS6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COPS6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

COPS6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COPS6 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P099686:  view genomic region     (about GC identifiers)

Start:
99,686,577 bp from pter      End:
99,689,823 bp from pter
Size:
3,247 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 99,046,703-99,049,943     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CSN6_HUMAN, Q7L5N1 (See protein sequence)
Recommended Name: COP9 signalosome complex subunit 6  
Size: 327 amino acids; 36163 Da
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
Subcellular location: Nucleus. Cytoplasm. Note=The interaction with HIV-1 Vpr protein possibly leads its
translocation to a perinuclear region
Caution: Although related to the peptidase M67A family, it lacks the JAMM motif that probably constitutes the
catalytic center and therefore it probably does not have a protease activity
Sequence caution: Sequence=AAD03469.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A4D2A3 O15387

Explore the universe of human proteins at neXtProt for COPS6: NX_Q7L5N1

Explore proteomics data for COPS6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7L5N1

  • COPS6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COPS6 Protein Expression
    REFSEQ proteins: NP_006824.2  
    ENSEMBL proteins: 
     ENSP00000304102   ENSP00000388865   ENSP00000400617   ENSP00000413702  

    Human Recombinant Protein Products for COPS6: 
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    Novus Biologicals COPS6 Proteins
    Novus Biologicals COPS6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COPS6 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0008180COP9 signalosome IDA18850735

    COPS6 for ontologies           About GeneDecksing



    COPS6 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR000555 JAB1_Mov34_MPN_PAD1
     IPR024969 Rpn11/EIF3F_C

    Graphical View of Domain Structure for InterPro Entry Q7L5N1

    ProtoNet protein and cluster: Q7L5N1

    1 Blocks protein domain: IPB000555 Mov34 family

    UniProtKB/Swiss-Prot: CSN6_HUMAN, Q7L5N1
    Similarity: Belongs to the peptidase M67A family. CSN6 subfamily
    Similarity: Contains 1 MPN (JAB/Mov34) domain


    COPS6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CSN6_HUMAN, Q7L5N1
    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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16169070
         
    COPS6 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for COPS6:
     Decreased influenza A virus in  Decreased nuclei size in G2M  Decreased viability  Increased S DNA content 
     Increased cell death HMECs cel 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cops6):
     cellular  embryogenesis  growth/size  hematopoietic system  immune system 
     mortality/aging  tumorigenesis 

    COPS6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COPS6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COPS6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COPS6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COPS6 

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate COPS6:
    hsa-miR-185* hsa-miR-342-5p hsa-miR-26a hsa-miR-26b hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidCOPS6 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COPS6


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COPS6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    NOD pathway0.33


    1 BioSystems Pathway for COPS6
        NOD pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COPS6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/770 Interacting proteins for COPS6 (Q7L5N11, 2, 3 ENSP000003041024) via UniProtKB, MINT, STRING, and/or I2D (see all 770)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225987P404252, 3, ENSP000004039484MINT-62745 MINT-62669 MINT-62571 I2D: score=4 STRING: ENSP00000403948
    ENSG00000237344P404252, 3, ENSP000003971774MINT-62745 MINT-62669 MINT-62571 I2D: score=4 STRING: ENSP00000397177
    PBX2P404252, 3, ENSP000003641904MINT-62745 MINT-62669 MINT-62571 I2D: score=4 STRING: ENSP00000364190
    ENSG00000206315P404252, 3MINT-62745 MINT-62669 MINT-62571 I2D: score=4 
    ENSG00000224952P404252, 3MINT-62745 MINT-62669 MINT-62571 I2D: score=4 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010388cullin deneddylation IDA19141280
    GO:0019048modulation by virus of host morphology or physiology IEA--

    COPS6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COPS6 (CSN6)

    Search CenterWatch for drugs/clinical trials and news about COPS6 / CSN6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for COPS6 gene: 
    NM_006833.4  

    Unigene Cluster for COPS6:

    COP9 signalosome subunit 6
    Hs.15591  [show with all ESTs]
    Unigene Representative Sequence: BM542040
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303904(uc003usu.3) ENST00000465027(uc011kjf.1) ENST00000419210
    ENST00000418625 ENST00000472107 ENST00000468499 ENST00000496358 ENST00000474823
    ENST00000426712 ENST00000483891
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate COPS6:
    hsa-miR-185* hsa-miR-342-5p hsa-miR-26a hsa-miR-26b hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidCOPS6 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COPS6

    Additional mRNA sequence: 

    AK295237.1 AK312024.1 BC002520.2 U70735.1 

    14 DOTS entries:

    DT.95170955  DT.95315984  DT.453098  DT.100815364  DT.95170972  DT.121065250  DT.100815360  DT.121065372 
    DT.95170970  DT.121065332  DT.100815361  DT.91960947  DT.95170966  DT.95170967 

    24/470 AceView cDNA sequences (see all 470):

    AA888141 AA514938 CB114235 BQ276375 BF980601 BM743982 BM542490 BU169753 
    BQ685521 AA584932 AA812714 BE794682 BG749733 BQ675009 BQ668663 CA775312 
    BM782744 BM911834 CR593213 AI191351 AA748364 AW780069 BG111544 BU195976 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for COPS6 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10
    SP1:                          -     -                       -                                                   
    SP2:                          -     -                       -                                                   
    SP3:                          -     -                       -     -                                             
    SP4:                    -     -     -     -     -           -     -                                             
    SP5:                          -     -                                                                           


    ECgene alternative splicing isoforms for COPS6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COPS6 expression in normal human tissues (normalized intensities)      COPS6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCAGTTTG
    COPS6 Expression
    About this image


    COPS6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   

    See COPS6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COPS6

    SOURCE GeneReport for Unigene cluster: Hs.15591

    UniProtKB/Swiss-Prot: CSN6_HUMAN, Q7L5N1
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Array including COPS6: 
              HIV Host Response in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COPS6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COPS6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for COPS6 gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cops61 , 5 COP9 (constitutive photomorphogenic) homolog, subunit more1, 5 92.88(n)1
    98.45(a)1
      5 (76.97 cM)5
    268931  NM_012002.31  NP_036132.11 
     1381610715 
    lizard
    (Anolis carolinensis)
    Reptilia COPS66
    --
    Uncharacterized protein
    98(a)
    74(a)
    1 ↔ 1
    possible ortholog
    GL343882.1(32-3055)
    LGc(2365534-2370031)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.241802 Xenopus laevis transcribed sequence with moderate similarity more 79.98(n)    CA987326.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cops61 COP9 constitutive photomorphogenic homolog subunit more 81.26(n)
    91.92(a)
      550465  NM_001017768.1  NP_001017768.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CSN61 COP9 complex homolog subunit 6 62.02(n)
    58.51(a)
      42661  NM_079727.2  NP_524451.1 
    worm
    (Caenorhabditis elegans)
    Secernentea csn-61 Protein CSN-6 47.56(n)
    35.98(a)
      178289  NM_070156.6  NP_502557.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPN86
    Essential, non-ATPase regulatory subunit of the 26...
    19(a)
    1 → many
    XV(815915-816931)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CSN6A1 COP9 signalosome complex subunit 6a 51.47(n)
    41.7(a)
      835727  NM_125011.3  NP_568839.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g05000001 hypothetical protein 51.54(n)
    40.43(a)
      4345944  NM_001068687.1  NP_001062152.2 


    ENSEMBL Gene Tree for COPS6 (if available)
    TreeFam Gene Tree for COPS6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COPS6 gene
    PSMD72  EIF3F2  

    COPS6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/140 SNPs in COPS6 are shown (see all 140)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1888501701,2
    --99684613(+) GTGTTA/CAGTAA 1 -- us2k10--------
    rs1499398921,2
    --99684868(+) AAGCAA/GTTTGT 1 -- us2k10--------
    rs1821771261,2
    --99684893(+) GGGGAC/GGTATA 1 -- us2k10--------
    rs1871486501,2
    --99685026(+) TCGGCA/GTGCCT 1 -- us2k10--------
    rs1383023751,2
    C--99685198(+) TTATC-/TTCT  
            
    TTCTT
    1 -- us2k10--------
    rs667101501,2
    C--99685220(-) AAAAA-/AAAG/G
            
    AAAGA
    1 -- us2k11NA 2
    rs1123777081,2
    C--99685220(+) TCTTTT/CTTTTT 1 -- us2k12Minor allele frequency- C:0.25NA CSA 4
    rs1440278731,2
    C--99685309(+) TCCACC/TTCCCG 1 -- us2k10--------
    rs1904639201,2
    --99685577(+) AAGCAC/TGAGAC 1 -- us2k10--------
    rs1486524041,2
    --99685708(+) ATTCCC/TTCATT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for COPS6 (99686577 - 99689823 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for COPS6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    nsv469687CNV Loss16826518
    nsv510966CNV Complex20534489

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614729    OMIM disorders: --

    6 diseases for COPS6:    About MalaCards
    microphthalmia syndromic 6    hereditary renal cell carcinoma    kidney cancer    microphthalmia
    xeroderma pigmentosum    renal cell carcinoma


    COPS6 for disorders           About GeneDecksing


    Export disorders for COPS6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COPS6 gene, integrated from 9 sources (see all 78):
    (articles sorted by number of sources associating them with COPS6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Carboxyl terminus of hVIP/mov34 is critical for HIV-1-Vpr interaction and glucocorticoid-mediated signaling. (PubMed id 12237292)1, 2, 9 Ramanathan M.P.... Weiner D.B. (2002)
    2. Association of the mammalian proto-oncoprotein Int-6 with the three protein complexes eIF3, COP9 signalosome and 26S proteasome. (PubMed id 12220626)1, 2, 9 Hoareau Alves K.... Jalinot P. (2002)
    3. HIV-1 Vpr interacts with a human 34-kDa mov34 homologue, a cellular factor linked to the G2/M phase transition of the mammalian cell cycle. (PubMed id 9520381)1, 2, 9 Mahalingam S.... Weiner D.B. (1998)
    4. A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. (PubMed id 9535219)1, 2, 9 Seeger M....Dubiel W. (1998)
    5. COP9 signalosome subunit 6 stabilizes COP1, which fun ctions as an E3 ubiquitin ligase for 14-3-3I8. (PubMed id 21625211)1, 2 Choi H.H....Lee M.H. (2011)
    6. Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PubMed id 18850735)1, 2 Fang L.... Huang L. (2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    9. Protein kinase CK2 and protein kinase D are associated with the COP9 signalosome. (PubMed id 12628923)1, 2 Uhle S....Dubiel W. (2003)
    10. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. (PubMed id 12732143)1, 2 Groisman R.... Nakatani Y. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10980 HGNC: 21749 AceView: COPS6 Ensembl:ENSG00000168090 euGenes: HUgn10980
    ECgene: COPS6 H-InvDB: COPS6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COPS6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COPS6 gene:
    Search GeneIP for patents involving COPS6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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