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    COPS9 COP9 signalosome subunit 9 [ Homo sapiens (human) ]

    Gene ID: 150678, updated on 28-Oct-2024

    Summary

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    Official Symbol
    COPS9provided by HGNC
    Official Full Name
    COP9 signalosome subunit 9provided by HGNC
    Primary source
    HGNC:HGNC:21314
    See related
    Ensembl:ENSG00000172428 MIM:619349; AllianceGenome:HGNC:21314
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSNAP; MYEOV2
    Summary
    Involved in several processes, including cellular response to UV; cytoplasmic sequestering of protein; and negative regulation of protein neddylation. Located in chromatin; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 12.9), fat (RPKM 12.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COPS9 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240126548..240136347, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (240619322..240629121, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241065980..241075764, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 9 subfamily S member 24 pseudogene Neighboring gene olfactory receptor family 5 subfamily S member 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241078745-241079469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241079470-241080193 Neighboring gene otospiralin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241094499-241094998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241107126-241107741 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:241137725-241137897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241139753-241140254 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:241144761-241145650 Neighboring gene uncharacterized LOC107985836

    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. CSNAP, the smallest CSN subunit, modulates proteostasis through cullin-RING ubiquitin ligases. Füzesi-Levi MG, et al. Cell Death Differ, 2020 Mar. PMID 31367012, Free PMC Article
    2. The disordered PCI-binding human proteins CSNAP and DSS1 have diverged in structure and function. Ruidiaz SF, et al. Protein Sci, 2021 Oct. PMID 34272906, Free PMC Article
    3. CSNAP Is a Stoichiometric Subunit of the COP9 Signalosome. Rozen S, et al. Cell Rep, 2015 Oct 20. PMID 26456823, Free PMC Article
    4. Myeloma overexpressed 2 (Myeov2) regulates L11 subnuclear localization through Nedd8 modification. Ebina M, et al. PLoS One, 2013. PMID 23776465, Free PMC Article
    5. Structural dynamics of the human COP9 signalosome revealed by cross-linking mass spectrometry and integrative modeling. Gutierrez C, et al. Proc Natl Acad Sci U S A, 2020 Feb 25. PMID 32034103, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The disordered PCI-binding human proteins CSNAP and DSS1 have diverged in structure and function.
      Title: The disordered PCI-binding human proteins CSNAP and DSS1 have diverged in structure and function.
    2. CSNAP, the smallest CSN subunit, modulates proteostasis through cullin-RING ubiquitin ligases.
      Title: CSNAP, the smallest CSN subunit, modulates proteostasis through cullin-RING ubiquitin ligases.
    3. Myeloma overexpressed 2 (Myeov2) regulates L11 subnuclear localization through Nedd8 modification.
      Title: Myeloma overexpressed 2 (Myeov2) regulates L11 subnuclear localization through Nedd8 modification.
    Submit: New GeneRIF Correction

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 cellular response to UV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytoplasmic sequestering of protein IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein neddylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    COP9 signalosome complex subunit 9
    Names
    CSN acidic protein
    helicase/primase complex protein
    myeloma overexpressed 2
    myeloma-overexpressed gene 2 protein

    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.

    mRNA and Protein(s)

    1. NM_001163424.2 → NP_001156896.1  COP9 signalosome complex subunit 9 isoform 2

      See identical proteins and their annotated locations for NP_001156896.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment near the N-terminus and has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC013469, AF487338, CN304277
      Consensus CDS
      CCDS63183.1
      UniProtKB/Swiss-Prot
      Q8N110, Q8WXC6
      Related
      ENSP00000475979.1, ENST00000607357.2
      Conserved Domains (1) summary
      pfam15004
      Location:1 → 50
      MYEOV2; Myeloma-overexpressed-like

    2. NM_138336.1 → NP_612209.1  COP9 signalosome complex subunit 9 isoform 1

      See identical proteins and their annotated locations for NP_612209.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF453951
      Consensus CDS
      CCDS2532.1
      UniProtKB/Swiss-Prot
      Q8WXC6
      Related
      ENSP00000304147.3, ENST00000307266.7
      Conserved Domains (1) summary
      pfam15004
      Location:25 → 76
      MYEOV2; Myeloma-overexpressed-like

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      240126548..240136347 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003411.2 → XP_016858900.2  COP9 signalosome complex subunit 9 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      240619322..240629121 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340658.1 → XP_054196633.1  COP9 signalosome complex subunit 9 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXC6.3 GenPept UniProtKB/Swiss-Prot:Q8WXC6

    Gene LinkOut

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

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