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    COPS7A COP9 signalosome subunit 7A [ Homo sapiens (human) ]

    Gene ID: 50813, updated on 3-Nov-2024

    Summary

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    Official Symbol
    COPS7Aprovided by HGNC
    Official Full Name
    COP9 signalosome subunit 7Aprovided by HGNC
    Primary source
    HGNC:HGNC:16758
    See related
    Ensembl:ENSG00000111652 MIM:616009; AllianceGenome:HGNC:16758
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSN7; CSN7A; SGN7a
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 27.2), thyroid (RPKM 23.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COPS7A in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6724046..6731865)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6734396..6742219)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6833212..6841031)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5875 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6808761-6809262 Neighboring gene PILR alpha associated neural protein Neighboring gene RNA, U6 small nuclear 781, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5880 Neighboring gene myeloid leukemia factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4181 Neighboring gene parathymosin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Long non-coding RNA KRT19P3 suppresses proliferation and metastasis through COPS7A-mediated NF-κB pathway in gastric cancer. Zheng J, et al. Oncogene, 2019 Nov. PMID 31409899
    2. Polyamine-modulated factor 1 binds to the human homologue of the 7a subunit of the Arabidopsis COP9 signalosome: implications in gene expression. Wang Y, et al. Biochem J, 2002 Aug 15. PMID 12020345, Free PMC Article
    3. Comprehensive prediction of robust synthetic lethality between paralog pairs in cancer cell lines. De Kegel B, et al. Cell Syst, 2021 Dec 15. PMID 34529928
    4. The organization of a CSN5-containing subcomplex of the COP9 signalosome. Kotiguda GG, et al. J Biol Chem, 2012 Dec 7. PMID 23086934, Free PMC Article
    5. The COP9 signalosome: more than a protease. Wei N, et al. Trends Biochem Sci, 2008 Dec. PMID 18926707

    See all (99) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC110877

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in COP9 signalosome assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein deneddylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein neddylation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of protein neddylation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of COP9 signalosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of COP9 signalosome IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    COP9 signalosome complex subunit 7a
    Names
    COP9 complex subunit 7a
    COP9 constitutive photomorphogenic homolog subunit 7A
    JAB1-containing signalosome subunit 7a
    dermal papilla-derived protein 10

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034023.1 RefSeqGene

      Range
      5063..12882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164093.2 → NP_001157565.1  COP9 signalosome complex subunit 7a

      See identical proteins and their annotated locations for NP_001157565.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 encode the same protein.
      Source sequence(s)
      AK292621, BC011789, BQ008460, DC355036
      Consensus CDS
      CCDS8558.1
      UniProtKB/Swiss-Prot
      A8K9A6, Q9NVX3, Q9UBW8, Q9UJW4
      UniProtKB/TrEMBL
      Q567U8
      Related
      ENSP00000446039.1, ENST00000534947.5
      Conserved Domains (2) summary
      smart00088
      Location:87 → 177
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:166 → 215
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    2. NM_001164094.2 → NP_001157566.1  COP9 signalosome complex subunit 7a

      See identical proteins and their annotated locations for NP_001157566.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.
      Source sequence(s)
      BC011789, BQ008460, DA043679
      Consensus CDS
      CCDS8558.1
      UniProtKB/Swiss-Prot
      A8K9A6, Q9NVX3, Q9UBW8, Q9UJW4
      UniProtKB/TrEMBL
      Q567U8
      Related
      ENSP00000438115.1, ENST00000543155.6
      Conserved Domains (2) summary
      smart00088
      Location:87 → 177
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:166 → 215
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    3. NM_001164095.3 → NP_001157567.1  COP9 signalosome complex subunit 7a

      See identical proteins and their annotated locations for NP_001157567.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.
      Source sequence(s)
      AB014764, AC125494, BC011789, BQ008460, HY087807
      Consensus CDS
      CCDS8558.1
      UniProtKB/Swiss-Prot
      A8K9A6, Q9NVX3, Q9UBW8, Q9UJW4
      UniProtKB/TrEMBL
      Q567U8
      Related
      ENSP00000441852.1, ENST00000539735.5
      Conserved Domains (2) summary
      smart00088
      Location:87 → 177
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:166 → 215
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    4. NM_016319.4 → NP_057403.1  COP9 signalosome complex subunit 7a

      See identical proteins and their annotated locations for NP_057403.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-4 encode the same protein.
      Source sequence(s)
      AC125494, AF210052, BC011789, BQ008460
      Consensus CDS
      CCDS8558.1
      UniProtKB/Swiss-Prot
      A8K9A6, Q9NVX3, Q9UBW8, Q9UJW4
      UniProtKB/TrEMBL
      Q567U8
      Related
      ENSP00000229251.3, ENST00000229251.7
      Conserved Domains (2) summary
      smart00088
      Location:87 → 177
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:166 → 215
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6724046..6731865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253694.3 → XP_005253751.1  COP9 signalosome complex subunit 7a isoform X1

      See identical proteins and their annotated locations for XP_005253751.1

      UniProtKB/Swiss-Prot
      A8K9A6, Q9NVX3, Q9UBW8, Q9UJW4
      UniProtKB/TrEMBL
      Q567U8
      Related
      ENSP00000438363.1, ENST00000534877.5
      Conserved Domains (2) summary
      smart00088
      Location:87 → 177
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:166 → 215
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6734396..6742219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372155.1 → XP_054228130.1  COP9 signalosome complex subunit 7a isoform X1

      UniProtKB/Swiss-Prot
      A8K9A6, Q9NVX3, Q9UBW8, Q9UJW4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBW8.1 GenPept UniProtKB/Swiss-Prot:Q9UBW8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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