PSMD12 (proteasome 26S subunit, non-ATPase 12)

Gene

• Entrez ID: 5718
• Gene name: Proteasome 26S subunit, non-ATPase 12
• Gene symbol: PSMD12
• Synonyms: Rpn5, STISS, p55
• Chromosome: 17
• Chromosome location: 17q24.2
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs895130488	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs1114167442	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1114167443	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1114167444	T>C	Pathogenic	Splice acceptor variant, non coding transcript variant
rs1403781576	C>A,G	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs1567954436	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1567955779	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1598560094	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598563750	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598574154	GA>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021584	hsa-miR-142-3p	Microarray	17612493
MIRT021773	hsa-miR-132-3p	Microarray	17612493
MIRT031616	hsa-miR-16-5p	Proteomics	18668040
MIRT764767	hsa-miR-3117-5p	PAR-CLIP	27292025
MIRT770189	hsa-miR-4537	PAR-CLIP	27292025
MIRT776340	hsa-miR-6499-3p	PAR-CLIP	27292025

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0000502	Component	Proteasome complex	IDA	17323924
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0005515	Function	Protein binding	IPI	16990800, 26030138, 28514442
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	TAS	9426256
GO:0006521	Process	Regulation of cellular amino acid metabolic process	TAS
GO:0008541	Component	Proteasome regulatory particle, lid subcomplex	IBA	21873635
GO:0010972	Process	Negative regulation of G2/M transition of mitotic cell cycle	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016579	Process	Protein deubiquitination	TAS
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0031145	Process	Anaphase-promoting complex-dependent catabolic process	TAS
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	TAS
GO:0031595	Component	Nuclear proteasome complex	IBA	21873635
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	TAS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0038061	Process	NIK/NF-kappaB signaling	TAS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0043687	Process	Post-translational protein modification	TAS
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0055085	Process	Transmembrane transport	TAS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0061418	Process	Regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	TAS
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	TAS
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 604450
• HGNC: 9557
• e!Ensembl: ENSG00000197170

Protein

• UniProt ID: O00232
• Protein name: 26S proteasome non-ATPase regulatory subunit 12 (26S proteasome regulatory subunit RPN5) (26S proteasome regulatory subunit p55)
• Protein function: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.
• PDB: 5GJQ, 5GJR, 5L4K, 5LN3, 5M32, 5T0C, 5T0G, 5T0H, 5T0I, 5T0J, 5VFP, 5VFQ, 5VFR, 5VFS, 5VFT, 5VFU, 5VGZ, 5VHF, 5VHH, 5VHI, 5VHS, 6MSB, 6MSD, 6MSE, 6MSG, 6MSH, 6MSJ, 6MSK, 6WJD, 6WJN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01399	PCI	300 → 417	PCI domain	Domain
  PF18098	RPN5_C	422 → 454	26S proteasome regulatory subunit RPN5 C-terminal domain	Domain

• Sequence:

  MADGGSERADGRIVKMEVDYSATVDQRLPECAKLAKEGRLQEVIETLLSLEKQTRTASDM
  VSTSRILVAVVKMCYEAKEWDLLNENIMLLSKRRSQLKQAVAKMVQQCCTYVEEITDLPI
  KLRLIDTLRMVTEGKIYVEIERARLTKTLATIKEQNGDVKEAASILQELQVETYGSMEKK
  ERVEFILEQMRLCLAVKDYIRTQIISKKINTKFFQEENTEKLKLKYYNLMIQLDQHEGSY
  LSICKHYRAIYDTPCIQAESEKWQQALKSVVLYVILAPFDNEQSDLVHRISGDKKLEEIP
  KYKDLLKLFTTMELMRWSTLVEDYGMELRKGSLESPATDVFGSTEEGEKRWKDLKNRVVE
  HNIRIMAKYYTRITMKRMAQLLDLSVDESEAFLSNLVVNKTIFAKVDRLAGIINFQRPKD
  PNNLLNDWSQKLNSLMSLVNKTTHLIAKEEMIHNLQ

• Sequence length: 456