1. Gene
  2. COPS3 - COP9 signalosome subunit 3 Gene

COPS3 - COP9 signalosome subunit 3 Gene

Homo sapiens

Also known as CSN3; SGN3

Gene ID: 8533 | Gene type: protein coding

About COPS3

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,246,616-17,281,246 (from NCBI)

This gene has 18 transcripts (splice variants), 212 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 49.1), bone marrow (RPKM 38.5) and 25 other tissues.

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]

COPS3 Products(7)

mRNA Protein Name
NM_001199125.1 NP_001186054.1 COP9 signalosome complex subunit 3 isoform 2
NM_001316354.2 NP_001303283.1 COP9 signalosome complex subunit 3 isoform 3
NM_001316355.2 NP_001303284.1 COP9 signalosome complex subunit 3 isoform 4
NM_001316356.2 NP_001303285.1 COP9 signalosome complex subunit 3 isoform 5
NM_001316357.2 NP_001303286.1 COP9 signalosome complex subunit 3 isoform 6
NM_001316358.2 NP_001303287.1 COP9 signalosome complex subunit 3 isoform 6
NM_003653.4 NP_003644.2 COP9 signalosome complex subunit 3 isoform 1

COPS3 Protein Structure

PCI

PCI: PCI domain (259 - 361)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 423 a.a.
Protein Preferred Names Protein Names

COP9 signalosome complex subunit 3

COP9 complex subunit 3

Related Diseases

Diseases Alias
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

Bone Angioendothelial Sarcoma

Osseous Hemangiosarcoma

Bone Angiosarcoma

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

Parosteal Osteosarcoma

Juxtacortical Osteosarcoma

Parosteal Osteogenic Sarcoma

Osteosarcoma, Juxtacortical

Peripheral Osteosarcoma

Surface Osteosarcoma

Bone Surface Osteosarcoma

Telangiectatic Osteogenic Sarcoma

Telangiectatic Osteosarcoma

Conventional Osteosarcoma

Intracortical Osteosarcoma

Conventional Central Osteosarcoma

Intracortical Osteogenic Sarcoma

Medullary Osteosarcoma

Bone Osteosarcoma

Osteosarcoma Of Bone

Primary Osteosarcoma Of Bone

Potocki-Lupski Syndrome

PTLS

Chromosome 17p11.2 Duplication Syndrome

17p11.2 Microduplication Syndrome

Duplication 17p11.2 Syndrome

Trisomy 17p11.2

Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))

17p11.2 Duplication Syndrome

Dup(17)(P11.2p11.2)

Pls

Chromosome 17, Trisomy 17p11 2

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

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
Felis catus COPS3 VGNC VGNC:61088
Rattus norvegicus COPS3 RGD RGD:1303002
Macaca mulatta COPS3 VGNC VGNC:71316
Mus musculus COPS3 MGD MGI:1349409
Canis familiaris COPS3 VGNC VGNC:39510
Bos taurus COPS3 VGNC VGNC:27600