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

Also Known as p55; Rpn5; STISS

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 5718

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
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
16990800 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
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

PCI: PCI domain (300 - 416)

  • 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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
PSMD12 O00232 PSMD4 Homo sapiens P55036 33961781
Intra
PSMD12 O00232 PSMD4 Homo sapiens P55036 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Orthologs Information

生物種 Symbol 由来 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
Others PSMD12 NCBI