PSMC4 - proteasome 26S subunit, ATPase 4 Gene

Also Known as S6; RPT3; TBP7; TBP-7; MIP224

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5704

About PSMC4

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:39,971,165-39,981,764 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 198 orthologues and 5 paralogues. Ubiquitous expression in thyroid (RPKM 29.3), brain (RPKM 25.9) 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. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S Proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

PSMC4 Products (2)

mRNA Protein Name
NM_006503.4 NP_006494.1 26S proteasome regulatory subunit 6B isoform 1
NM_153001.3 NP_694546.1 26S proteasome regulatory subunit 6B isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12525503 GOA
Cellular Component GO Annotation Evidence References Source
part of proteasome complex IDA
IDA: Inferred from direct assay
17323924 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

PSMC4 Protein Structure

AAA

AAA: ATPase family associated with various cellular activities (AAA) (202 - 335)

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

26S proteasome regulatory subunit 6B

  • 26S protease regulatory subunit 6B

PSMC4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PSMC4 P43686 NEK7 Homo sapiens Q8TDX7 32814053
Intra
PSMC4 P43686 NEK7 Homo sapiens Q8TDX7 32814053
Intra
PSMC4 P43686 NEK7 Homo sapiens Q8TDX7 32814053
Intra
PSMC4 P43686 PSMC1 Homo sapiens P62191 33961781
Intra
PSMC4 P43686 PSMC1 Homo sapiens P62191 35271311
Intra
PSMC4 P43686 PSMC1 Homo sapiens P62191 17353931
Intra
PSMC4 P43686 PSMC1 Homo sapiens P62191 19490896
Intra
PSMC4 P43686 PSMC6 Homo sapiens P62333 33961781
Intra
PSMC4 P43686 PSMC6 Homo sapiens P62333 35271311
Intra
PSMC4 P43686 PSMC6 Homo sapiens P62333 19490896
Intra
PSMC4 P43686 PSMC5 Homo sapiens P62195 32296183
Intra
PSMC4 P43686 PSMC5 Homo sapiens P62195 35271311
Intra
PSMC4 P43686 PSMC5 Homo sapiens P62195 17353931
Intra
PSMC4 P43686 PSMC5 Homo sapiens P62195 16189514
Intra
PSMC4 P43686 PSMC5 Homo sapiens P62195 32296183
Intra
PSMC4 P43686 PSMC5 Homo sapiens P62195 32296183
Intra
PSMC4 P43686 PSMC5 Homo sapiens P62195 19490896
Intra
PSMC4 P43686 PSMC5 Homo sapiens P62195 29892012
Intra
PSMC4 P43686 PSMD4 Homo sapiens P55036 33961781
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 25416956
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 24338975
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 16189514
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 12525503
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 25416956
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 33961781
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 32296183
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 32296183
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 25416956
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832
Y2H
12525503
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 35271311
Intra
PSMC4 P43686 PSMD10 Homo sapiens O75832 17353931
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Episodic Ataxia, Type 2
  • Episodic Ataxia Type 2

  • EA2

  • Apca

  • Capa

  • Cerebellopathy, Hereditary Paroxysmal

  • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

  • Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

  • Episodic Ataxia With Nystagmus

  • Ataxia, Episodic, With Nystagmus

  • Episodic Ataxia, Nystagmus-Associated

  • Ataxia, Familial Paroxysmal

  • Acetazolamide-Responsive Episodic Ataxia Syndrome

  • Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

  • Ataxia, Familial, Paroxysmal

  • Nystagmus-Associated Episodic Ataxia

  • Familial Paroxysmal Ataxia

  • Episodic Ataxia 2

  • Ea-2

  • Episodic Ataxia Nystagmus-Associated

  • Hereditary Paroxysmal Cerebellopathy

  • Ataxia, Episodic, Type 2

Timothy Syndrome
  • Long Qt Syndrome With Syndactyly

  • TS

  • Lqt8

  • Long Qt Syndrome 8

  • Long Qt Syndrome Type 8

  • Long Qt Syndrome-Syndactyly Syndrome

Myotonia
Erythromelalgia
  • Primary Erythromelalgia

  • Erythermalgia

  • Primary Erythermalgia

  • Mitchell Disease

  • Familial Erythromelalgia

Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

Brugada Syndrome
  • Sudden Unexpected Nocturnal Death Syndrome

  • Sudden Unexplained Nocturnal Death Syndrome

  • Bangungut

  • Brugada Type Idiopathic Ventricular Fibrillation

  • Pokkuri Death Syndrome

  • Sunds

  • Idiopathic Ventricular Fibrillation, Brugada Type

  • Sudden Unexplained Death

  • Dream Disease

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sudden Unexplained Death Syndrome

  • Suds

  • Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

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 PSMC4 VGNC VGNC:33458
Canis familiaris PSMC4 VGNC VGNC:45104
Felis catus PSMC4 VGNC VGNC:69115
Rattus norvegicus PSMC4 RGD RGD:621102
Mus musculus PSMC4 MGD MGI:1346093
Macaca mulatta PSMC4 VGNC VGNC:76448
Others PSMC4 NCBI