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    COPS7B COP9 signalosome subunit 7B [ Homo sapiens (human) ]

    Gene ID: 64708, updated on 26-Nov-2024

    Summary

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    Official Symbol
    COPS7Bprovided by HGNC
    Official Full Name
    COP9 signalosome subunit 7Bprovided by HGNC
    Primary source
    HGNC:HGNC:16760
    See related
    Ensembl:ENSG00000144524 MIM:616010; AllianceGenome:HGNC:16760
    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
    CSN7B; SGN7b
    Summary
    Involved in protein deneddylation. Located in nucleoplasm. Part of COP9 signalosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 9.9), lymph node (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COPS7B in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231781671..231809253)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232266242..232293824)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (232646381..232673963)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232579381-232579910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232579911-232580440 Neighboring gene Sharpr-MPRA regulatory region 12341 Neighboring gene microRNA 1244-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17315 Neighboring gene prothymosin alpha Neighboring gene Sharpr-MPRA regulatory region 13150 Neighboring gene phosphodiesterase 6D Neighboring gene RNA, U6 small nuclear 1342, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:232645182-232645405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12449 Neighboring gene ribosomal protein L28 pseudogene 2 Neighboring gene guanidinoacetate N-methyltransferase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12450 Neighboring gene microRNA 1471

    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
    • 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. CSN7B defines a variant COP9 signalosome complex with distinct function in DNA damage response. Wang J, et al. Cell Rep, 2021 Jan 26. PMID 33503427
    2. The IGF2BP3-COPS7B Axis Facilitates mRNA Translation to Drive Colorectal Cancer Progression. Tang J, et al. Cancer Res, 2023 Nov 1. PMID 37560971
    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. 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
    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 (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The IGF2BP3-COPS7B Axis Facilitates mRNA Translation to Drive Colorectal Cancer Progression.
      Title: The IGF2BP3-COPS7B Axis Facilitates mRNA Translation to Drive Colorectal Cancer Progression.
    2. CSN7B defines a variant COP9 signalosome complex with distinct function in DNA damage response.
      Title: CSN7B defines a variant COP9 signalosome complex with distinct function in DNA damage response.
    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

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    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 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    COP9 signalosome complex subunit 7b
    Names
    COP9 constitutive photomorphogenic homolog subunit 7B
    JAB1-containing signalosome subunit 7b
    signalosome subunit 7b

    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_001282949.3 → NP_001269878.1  COP9 signalosome complex subunit 7b isoform c

      See identical proteins and their annotated locations for NP_001269878.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and lacks an exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has distinct N- and C-termini and is shorter than isoform a.
      Source sequence(s)
      AA126041, AC073476, AK307486, BE504900, DA754035
      Consensus CDS
      CCDS63152.1
      UniProtKB/TrEMBL
      J3KQ34
      Related
      ENSP00000386438.1, ENST00000409295.5
      Conserved Domains (1) summary
      smart00088
      Location:54 → 143
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15

    2. NM_001282950.3 → NP_001269879.1  COP9 signalosome complex subunit 7b isoform a

      See identical proteins and their annotated locations for NP_001269879.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform (a).
      Source sequence(s)
      AA126041, AC073476, BC091493, BE504900, HY051259
      Consensus CDS
      CCDS63153.1
      UniProtKB/Swiss-Prot
      Q9H9Q2
      Related
      ENSP00000362710.3, ENST00000373608.7
      Conserved Domains (2) summary
      smart00088
      Location:88 → 177
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:166 → 212
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    3. NM_001282951.3 → NP_001269880.1  COP9 signalosome complex subunit 7b isoform d

      See identical proteins and their annotated locations for NP_001269880.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks two exons that result in the loss of an in-frame segment in the 5' coding region, and lacks an exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AA126041, AC073476, BE504900, BI906506, DA754035
      Consensus CDS
      CCDS74668.1
      UniProtKB/TrEMBL
      A0A087X1P5
      Related
      ENSP00000484363.1, ENST00000611614.4
      Conserved Domains (2) summary
      smart00088
      Location:46 → 122
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:111 → 160
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    4. NM_001282952.3 → NP_001269881.1  COP9 signalosome complex subunit 7b isoform e

      See identical proteins and their annotated locations for NP_001269881.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks a portion of the 5' coding region, initiates translation at a downstream in-frame start codon, and lacks an exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AA126041, AC073476, AK024273, BE504900
      Consensus CDS
      CCDS63154.1
      UniProtKB/TrEMBL
      B3KV02, B3KW51
      Related
      ENSP00000484579.1, ENST00000620578.4
      Conserved Domains (2) summary
      smart00088
      Location:2 → 70
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:59 → 108
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    5. NM_001308381.2 → NP_001295310.1  COP9 signalosome complex subunit 7b isoform f

      See identical proteins and their annotated locations for NP_001295310.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice acceptor site in the central coding region, compared to variant 1. The encoded isoform (f) has the same N- and C-termini, but is longer than isoform a.
      Source sequence(s)
      AA126041, AC073476, AK126326, BE504900, BX333333, HY051259
      Consensus CDS
      CCDS77539.1
      UniProtKB/TrEMBL
      J3KQ41
      Related
      ENSP00000386880.1, ENST00000410017.5
      Conserved Domains (2) summary
      smart00088
      Location:88 → 177
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:166 → 214
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    6. NM_001369483.1 → NP_001356412.1  COP9 signalosome complex subunit 7b isoform b

      Status: VALIDATED

      Source sequence(s)
      AC073476
      Consensus CDS
      CCDS2488.1
      UniProtKB/Swiss-Prot
      Q53S22, Q5BJG3, Q9H7V6, Q9H9Q2
      UniProtKB/TrEMBL
      Q53GQ2
      Related
      ENSP00000386567.1, ENST00000410024.5
      Conserved Domains (2) summary
      smart00088
      Location:88 → 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

    7. NM_022730.4 → NP_073567.1  COP9 signalosome complex subunit 7b isoform b

      See identical proteins and their annotated locations for NP_073567.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AA126041, AC073476, AK022674, BE504900, HY051259
      Consensus CDS
      CCDS2488.1
      UniProtKB/Swiss-Prot
      Q53S22, Q5BJG3, Q9H7V6, Q9H9Q2
      UniProtKB/TrEMBL
      Q53GQ2
      Related
      ENSP00000272995.5, ENST00000350033.8
      Conserved Domains (2) summary
      smart00088
      Location:88 → 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      231781671..231809253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712693.3 → XP_006712756.1  COP9 signalosome complex subunit 7b isoform X1

      See identical proteins and their annotated locations for XP_006712756.1

      UniProtKB/TrEMBL
      J3KQ41
      Conserved Domains (2) summary
      smart00088
      Location:88 → 177
      PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
      pfam18392
      Location:166 → 214
      CSN7a_helixI; COP9 signalosome complex subunit 7a helix I domain

    2. XM_047445433.1 → XP_047301389.1  COP9 signalosome complex subunit 7b isoform X2

    3. XM_047445434.1 → XP_047301390.1  COP9 signalosome complex subunit 7b isoform X3

      UniProtKB/TrEMBL
      Q6ZTQ7

    4. XM_011511638.3 → XP_011509940.1  COP9 signalosome complex subunit 7b isoform X3

      See identical proteins and their annotated locations for XP_011509940.1

      UniProtKB/TrEMBL
      Q6ZTQ7
      Conserved Domains (1) summary
      smart00753
      Location:2 → 70
      PAM; PCI/PINT associated module

    RNA

    1. XR_001738900.3 RNA Sequence

    2. XR_007080108.1 RNA Sequence

      Related
      ENST00000413197.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      232266242..232293824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343397.1 → XP_054199372.1  COP9 signalosome complex subunit 7b isoform X1

      UniProtKB/TrEMBL
      J3KQ41

    2. XM_054343398.1 → XP_054199373.1  COP9 signalosome complex subunit 7b isoform X2

    3. XM_054343400.1 → XP_054199375.1  COP9 signalosome complex subunit 7b isoform X3

      UniProtKB/TrEMBL
      Q6ZTQ7

    4. XM_054343399.1 → XP_054199374.1  COP9 signalosome complex subunit 7b isoform X3

      UniProtKB/TrEMBL
      Q6ZTQ7

    RNA

    1. XR_008486490.1 RNA Sequence

    2. XR_008486491.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H9Q2.1 GenPept UniProtKB/Swiss-Prot:Q9H9Q2

    Gene LinkOut

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

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