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

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; AllianceGenome:HGNC:2239
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: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (17246616..17281246, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (17192637..17227324, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (17149930..17184560, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The COPS3-FOXO3 positive feedback loop regulates autophagy to promote cisplatin resistance in osteosarcoma.
Title: The COPS3-FOXO3 positive feedback loop regulates autophagy to promote cisplatin resistance in osteosarcoma.
COPS3 may be closely related to the progress of PCa. Knockdown of COPS3 inhibited the progress of PCa through reducing the levels of phosphorylated P38 MAPK and impaired the epithelial-mesenchymal transition process.
Title: Knockdown of COPS3 inhibits the progress of prostate cancer through reducing phosphorylated p38 MAPK expression and impairs the epithelial-mesenchymal transition process.
these data reveal a novel function of COPS3 in the regulation of autophagy and highlight the relationship between autophagy and metastasis in osteosarcoma cells.
Title: Novel oncogene COPS3 interacts with Beclin1 and Raf-1 to regulate metastasis of osteosarcoma through autophagy.
COPS3 may be a new potential target of clear cell renal cell carcinoma.
Title: Overexpression of COPS3 promotes clear cell renal cell carcinoma progression via regulation of Phospho-AKT(Thr308), Cyclin D1 and Caspase-3.
Here the authors identify a potential mechanism by which desmosomes assist the de-neddylating COP9 signalosome (CSN) in attenuating EGFR through an association between the Cops3 subunit of the CSN and desmosomal components, Desmoglein1 (Dsg1) and Desmoplakin (Dp), to promote epidermal differentiation.
Title: Epidermal Growth Factor Receptor neddylation is regulated by a desmosomal-COP9 (Constitutive Photomorphogenesis 9) signalosome complex.
this study demonstrates Csn3 as an oncogene that regulates the tumorigenesis process in hepatocellular carcinoma (HCC) cells.
Title: Inhibition of Csn3 expression induces growth arrest and apoptosis of hepatocellular carcinoma cells.
of the COPS3 gene might have important roles in metastasis of osteosarcoma cells.
Title: RNAi-mediated COPS3 gene silencing inhibits metastasis of osteogenic sarcoma cells.

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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)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S71 (e-PCR)
- UniSTS:147212

D17S1925 (e-PCR)
- UniSTS:82246

D17S71 (e-PCR)
- UniSTS:147582

STS-W80395 (e-PCR)
- UniSTS:38060

D17S1462E (e-PCR)
- UniSTS:150503

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 in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in protein deneddylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein neddylation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein neddylation	NAS Non-traceable Author Statement more info	PubMed
involved_in response to light stimulus	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

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	IPI Inferred from Physical Interaction more info	PubMed
part_of COP9 signalosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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)

NM_001199125.1 → NP_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/TrEMBL

H7C3P9

Related

ENSP00000437606.2, ENST00000539941.6

Conserved Domains (1) summary

pfam01399
Location:239 → 342

PCI; PCI domain
NM_001316354.2 → NP_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)

AC055811, AK297706, BC001891, BP260214, BU952436, DB493356

UniProtKB/TrEMBL

B4DN01

Conserved Domains (1) summary

pfam01399
Location:129 → 232

PCI; PCI domain
NM_001316355.2 → NP_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)

AC055811, AF031647, BC001891, BI520077, BP260214, BU952436, DB493356

UniProtKB/TrEMBL

H7C3P9

Conserved Domains (1) summary

smart00088
Location:251 → 325

PINT; motif in proteasome subunits, Int-6, Nip-1 and TRIP-15
NM_001316356.2 → NP_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)

AC055811, AF031647, BC001891, BP260214, BU171304, BU952436, DB493356

UniProtKB/TrEMBL

B4DN01

Conserved Domains (1) summary

pfam01399
Location:192 → 295

PCI; PCI domain
NM_001316357.2 → NP_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)

AC055811, AF031647, BC001891, BU154357, BU952436

UniProtKB/TrEMBL

B4DN01

Conserved Domains (1) summary

pfam01399
Location:154 → 257

PCI; PCI domain
NM_001316358.2 → NP_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/TrEMBL

B4DN01

Conserved Domains (1) summary

pfam01399
Location:154 → 257

PCI; PCI domain
NM_003653.4 → NP_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

B2R683, B4DY81, O43191, Q7LDR6, Q9UNS2

UniProtKB/TrEMBL

H7C3P9

Related

ENSP00000268717.5, ENST00000268717.10

Conserved Domains (1) summary

pfam01399
Location:259 → 362

PCI; PCI domain