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COPS3 COP9 signalosome subunit 3 [ Homo sapiens (human) ]

Gene ID: 8533, updated on 6-Jan-2019

Summary

Official Symbol
COPS3provided by HGNC
Official Full Name
COP9 signalosome subunit 3provided by HGNC
Primary source
HGNC:HGNC:2239
See related
Ensembl:ENSG00000141030 MIM:604665
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
CSN3; SGN3
Summary
The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Expression
Ubiquitous expression in testis (RPKM 49.1), bone marrow (RPKM 38.5) and 25 other tissues See more
Orthologs

Genomic context

See COPS3 in Genome Data Viewer
Location:
17p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (17246624..17281303, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17149938..17184617, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene folliculin Neighboring gene actin gamma 1 pseudogene 24 Neighboring gene 5',3'-nucleotidase, mitochondrial Neighboring gene ribosomal protein L13 pseudogene 12

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr is identified to have a physical interaction with COP9 constitutive photomorphogenic homolog subunit 3 (COPS3; CSN3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • DNA Damage Recognition in GG-NER, organism-specific biosystem (from REACTOME)
    DNA Damage Recognition in GG-NER, organism-specific biosystemIn global genome nucleotide excision repair (GG-NER), the DNA damage is recognized by two protein complexes. The first complex consists of XPC, RAD23A or RAD23B, and CETN2. This complex probes the DN...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Formation of TC-NER Pre-Incision Complex, organism-specific biosystem (from REACTOME)
    Formation of TC-NER Pre-Incision Complex, organism-specific biosystemFormation of TC-NER pre-incision complex is initiated when the RNA polymerase II (RNA Pol II) complex stalls at a DNA damage site. The stalling is caused by misincorporation of a ribonucleotide oppos...
  • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
    Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair, DNA damage recognition TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein deneddylation IDA
Inferred from Direct Assay
more info
PubMed 
response to light stimulus TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
COP9 signalosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
COP9 signalosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
COP9 signalosome complex subunit 3
Names
COP9 complex subunit 3
COP9 constitutive photomorphogenic homolog subunit 3
JAB1-containing signalosome subunit 3
signalosome subunit 3

NCBI Reference Sequences (RefSeq)

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_001199125.1NP_001186054.1  COP9 signalosome complex subunit 3 isoform 2

    See identical proteins and their annotated locations for NP_001186054.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC055811, AK302304, BU952436
    Consensus CDS
    CCDS56022.1
    UniProtKB/Swiss-Prot
    Q9UNS2
    Related
    ENSP00000437606.2, ENST00000539941.6
    Conserved Domains (1) summary
    pfam01399
    Location:239342
    PCI; PCI domain
  2. NM_001316354.1NP_001303283.1  COP9 signalosome complex subunit 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains two alternate splice junctions compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK297706, BC001891, BP260214, BU952436, DB493356
    UniProtKB/Swiss-Prot
    Q9UNS2
    UniProtKB/TrEMBL
    B4DN01
    Conserved Domains (1) summary
    pfam01399
    Location:129232
    PCI; PCI domain
  3. NM_001316355.1NP_001303284.1  COP9 signalosome complex subunit 3 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF031647, BC001891, BI520077, BP260214, BU952436, DB493356
    UniProtKB/Swiss-Prot
    Q9UNS2
    Conserved Domains (1) summary
    smart00088
    Location:251325
    PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
  4. NM_001316356.1NP_001303285.1  COP9 signalosome complex subunit 3 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks a 5' exon compared to variant 1. This difference causes translation initiation at a downstream AUG and results in an isoform (5) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF031647, BC001891, BP260214, BU171304, BU952436, DB493356
    UniProtKB/Swiss-Prot
    Q9UNS2
    Conserved Domains (1) summary
    pfam01399
    Location:192295
    PCI; PCI domain
  5. NM_001316357.1NP_001303286.1  COP9 signalosome complex subunit 3 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon compared to variant 1. The resulting isoform (6) has a shorter and distinct N-terminus compared to isoform 1. Variants 6 and 7 both encode the same isoform (6).
    Source sequence(s)
    AF031647, BC001891, BP260214, BU154357, BU952436
    UniProtKB/Swiss-Prot
    Q9UNS2
    Conserved Domains (1) summary
    pfam01399
    Location:154257
    PCI; PCI domain
  6. NM_001316358.1NP_001303287.1  COP9 signalosome complex subunit 3 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two alternate exons compared to variant 1. The resulting isoform (6) has a shorter and distinct N-terminus compared to isoform 1. Variants 6 and 7 both encode the same isoform (6).
    Source sequence(s)
    AC055811, AF031647, BC001891, BG030374, BP260214, BU952436
    UniProtKB/Swiss-Prot
    Q9UNS2
    Conserved Domains (1) summary
    pfam01399
    Location:154257
    PCI; PCI domain
  7. NM_003653.4NP_003644.2  COP9 signalosome complex subunit 3 isoform 1

    See identical proteins and their annotated locations for NP_003644.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC055811, BC001891, BU952436
    Consensus CDS
    CCDS11183.1
    UniProtKB/Swiss-Prot
    Q9UNS2
    Related
    ENSP00000268717.5, ENST00000268717.9
    Conserved Domains (1) summary
    pfam01399
    Location:259362
    PCI; PCI domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    17246624..17281303 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256837.4XP_005256894.1  COP9 signalosome complex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_005256894.1

    UniProtKB/Swiss-Prot
    Q9UNS2
    Conserved Domains (1) summary
    pfam01399
    Location:239342
    PCI; PCI domain
  2. XM_005256840.3XP_005256897.1  COP9 signalosome complex subunit 3 isoform X3

    See identical proteins and their annotated locations for XP_005256897.1

    Conserved Domains (1) summary
    pfam01399
    Location:129232
    PCI; PCI domain
  3. XM_005256842.4XP_005256899.1  COP9 signalosome complex subunit 3 isoform X3

    See identical proteins and their annotated locations for XP_005256899.1

    Conserved Domains (1) summary
    pfam01399
    Location:129232
    PCI; PCI domain
  4. XM_017025246.1XP_016880735.1  COP9 signalosome complex subunit 3 isoform X2

    Conserved Domains (1) summary
    pfam01399
    Location:154257
    PCI; PCI domain
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