1. Gene
  2. PSMC1 - proteasome 26S subunit, ATPase 1 Gene

PSMC1 - proteasome 26S subunit, ATPase 1 Gene

Homo sapiens

Also known as S4; p56; RPT2; P26S4; NEDGTH

Gene ID: 5700 | Gene type: protein coding

About PSMC1

Cytogenetic location: 14q32.11 Genomic coordinates (GRCh38): 14:90,256,553-90,275,429 (from NCBI)

This gene has 7 transcripts (splice variants), 285 orthologues and 5 paralogues. Ubiquitous expression in testis (RPKM 27.5), fat (RPKM 23.0) and 25 other tissues.

Summary

The 26S Proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave Peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified Proteasome, the immunoproteasome, is the processing of class I MHC Peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the Proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the Proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]

PSMC1 Products(2)

mRNA Protein Name
NM_001330212.2 NP_001317141.1 26S proteasome regulatory subunit 4 isoform b
NM_002802.3 NP_002793.2 26S proteasome regulatory subunit 4 isoform a

PSMC1 Protein Structure

AAA

AAA: ATPase family associated with various cellular activities (AAA) (222 - 355)

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  • 440 a.a.
Protein Preferred Names Protein Names

26S proteasome regulatory subunit 4

26S protease regulatory subunit 4

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss

NEDGTH

Borna Disease

Enzootic Encephalomyelitis

Bjornstad Syndrome

BJS

Pili Torti And Nerve Deafness

Ptd

Pili Torti-Deafness Syndrome

Deafness-Pili Torti-Hypogonadism Syndrome

Deafness And Pili Torti, Bjornstad Type

Pili Torti-Sensorineural Hearing Loss

Björnstad Syndrome

Ptnd

Hearing Loss-Pili Torti-Hypogonadism Syndrome

Bjoernstad Syndrome

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
Bos taurus PSMC1 VGNC VGNC:33454
Mus musculus PSMC1 MGD MGI:106054
Rattus norvegicus PSMC1 RGD RGD:621097
Canis familiaris PSMC1 VGNC VGNC:45101