1. Gene
  2. COPS8 - COP9 signalosome subunit 8 Gene

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

COPS8 Protein Structure

CSN8_PSD8_EIF3K

CSN8_PSD8_EIF3K: CSN8/PSMD8/EIF3K family (33 - 165)

  • 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

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