PSMD12 - proteasome 26S subunit, non-ATPase 12 Gene

Homo sapiens

Also known as p55; Rpn5; STISS

Gene ID: 5718 | Gene type: protein coding

About PSMD12

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:67,337,916-67,366,577 (from NCBI)

This gene has 8 transcripts (splice variants), 210 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 12.2), bone marrow (RPKM 9.8) 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 a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

PSMD12 Products(3)

mRNA	Protein	Name
NM_001316341.2	NP_001303270.1	26S proteasome non-ATPase regulatory subunit 12 isoform 3
NM_002816.5	NP_002807.1	26S proteasome non-ATPase regulatory subunit 12 isoform 1
NM_174871.4	NP_777360.1	26S proteasome non-ATPase regulatory subunit 12 isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16990800	GOA

Cellular Component GO Annotation	Evidence	Reference	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

PSMD12 Protein Structure

PCI

0
100
200
300
400
456 a.a.

Protein Preferred Names

Protein Names

26S proteasome non-ATPase regulatory subunit 12

26S proteasome regulatory subunit RPN5

PSMD12 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PSMD12	O00232	PSMD4	Homo sapiens	P55036	Anti Tag CoIP	33961781
Intra	PSMD12	O00232	PSMD4	Homo sapiens	P55036	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Stankiewicz-Isidor Syndrome

STISS

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

17q24.2 Microdeletion Syndrome

Del(17)(Q24)

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

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

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-RS11320	PSMD12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PSMD12	VGNC	VGNC:45108
Mus musculus	PSMD12	MGD	MGI:1914247
Felis catus	PSMD12	VGNC	VGNC:69120
Bos taurus	PSMD12	VGNC	VGNC:33463
Macaca mulatta	PSMD12	VGNC	VGNC:76451
Rattus norvegicus	PSMD12	RGD	RGD:1359305

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