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

Gene ID: 150678, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 12.9), fat (RPKM 12.7) and 25 other tissues See more
Orthologs
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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.

Chemical Information
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