COPS8 - COP9 signalosome subunit 8 Gene

Homo sapiens

Also known as COP9; CSN8; SGN8

Gene ID: 10920 | Gene type: protein coding

About COPS8

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:237,085,889-237,100,474 (from NCBI)

This gene has 7 transcripts (splice variants) and 141 orthologues. Ubiquitous expression in brain (RPKM 28.1), testis (RPKM 22.3) and 25 other tissues.

Summary

The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S Proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

COPS8 Products(2)

mRNA	Protein	Name
NM_006710.5	NP_006701.1	COP9 signalosome complex subunit 8 isoform 1
NM_198189.3	NP_937832.1	COP9 signalosome complex subunit 8 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20399188	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in activation of NF-kappaB-inducing kinase activity	IMP IMP: Inferred from mutant phenotype	22992343	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	23689509	GOA
involved in protein deneddylation	IDA IDA: Inferred from direct assay	19141280	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	9535219	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of COP9 signalosome	IDA IDA: Inferred from direct assay	9535219	GOA
part of COP9 signalosome	IPI IPI: Inferred from physical interaction	25043011	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	24421388	GOA
located in nucleus	IDA IDA: Inferred from direct assay	24421388	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	9535219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COPS8 Protein Structure

CSN8_PSD8_EIF3K

0
100
209 a.a.

Protein Preferred Names

Protein Names

COP9 signalosome complex subunit 8

COP9 constitutive photomorphogenic homolog subunit 8

Related Diseases

Diseases

Alias

Xeroderma Pigmentosum, Complementation Group E

Xeroderma Pigmentosum V	Xp5
Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype	Xpe
Xp, Group E	Xeroderma Pigmentosum, Type 5
Xeroderma Pigmentosum Complementation Group E	XP-E
Xp Group E

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03032	COPS8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	COPS8	VGNC	VGNC:71334
Mus musculus	COPS8	MGD	MGI:1915363
Felis catus	COPS8	VGNC	VGNC:61092
Bos taurus	COPS8	VGNC	VGNC:27606
Rattus norvegicus	COPS8	RGD	RGD:1311404

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