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

Gene ID: 64708, updated on 7-Apr-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 9.9), lymph node (RPKM 6.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2q37.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231781671..231809253)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232266242..232293824)
105.20220307 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. 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
  3. 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
  4. 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
  5. Dynamic regulation of the COP9 signalosome in response to DNA damage. Füzesi-Levi MG, et al. Mol Cell Biol, 2014 Mar. PMID 24421388, Free PMC Article

See all (83) 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)

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

  • FLJ12612, MGC111077

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_2023_10

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

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