PSMD12
26S proteasome non-ATPase regulatory subunit 12
Also known as: p55, PSD12_HUMAN, Rpn5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00232
- Gene
- PSMD12
- Ensembl
- ENSG00000197170
- Chromosome
- 17
- Canonical length
- 456 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Microtubules,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
456 residues, UniProt reviewed canonical sequence.
>O00232|PSMD12
1 MADGGSERAD GRIVKMEVDY SATVDQRLPE CAKLAKEGRL QEVIETLLSL EKQTRTASDM
61 VSTSRILVAV VKMCYEAKEW DLLNENIMLL SKRRSQLKQA VAKMVQQCCT YVEEITDLPI
121 KLRLIDTLRM VTEGKIYVEI ERARLTKTLA TIKEQNGDVK EAASILQELQ VETYGSMEKK
181 ERVEFILEQM RLCLAVKDYI RTQIISKKIN TKFFQEENTE KLKLKYYNLM IQLDQHEGSY
241 LSICKHYRAI YDTPCIQAES EKWQQALKSV VLYVILAPFD NEQSDLVHRI SGDKKLEEIP
301 KYKDLLKLFT TMELMRWSTL VEDYGMELRK GSLESPATDV FGSTEEGEKR WKDLKNRVVE
361 HNIRIMAKYY TRITMKRMAQ LLDLSVDESE AFLSNLVVNK TIFAKVDRLA GIINFQRPKD
421 PNNLLNDWSQ KLNSLMSLVN KTTHLIAKEE MIHNLQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PSMD12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 36 nTPM
- tongue: 27 nTPM
- liver: 26 nTPM
- midbrain: 16 nTPM
- cerebral cortex: 15 nTPM
- pancreas: 15 nTPM
Single-cell type
- late spermatids: 304 nCPM
- endometrial glandular cells: 227 nCPM
- erythrocyte progenitors: 204 nCPM
- early spermatids: 199 nCPM
- thymic myoid cells: 175 nCPM
- endometrial luminal cells: 166 nCPM
Immune cell
- non-classical monocyte: 20 nTPM
- intermediate monocyte: 17 nTPM
- basophil: 14 nTPM
- MAIT T-cell: 12 nTPM
- T-reg: 12 nTPM
- memory CD4 T-cell: 12 nTPM
Brain region
- cerebral cortex: 43 nTPM
- pons: 43 nTPM
- midbrain: 41 nTPM
- hypothalamus: 40 nTPM
- medulla oblongata: 39 nTPM
- thalamus: 36 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PSMD12.
Disease | AllUniProt
Conditions PSMD12 is implicated in, by any mechanism.
- Stankiewicz-Isidor syndrome (STISS) MIM:617516
Disease | GeneticClinVar
33 pathogenic / likely-pathogenic of 173 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Stankiewicz-Isidor syndrome
- Inborn genetic diseases
- Intellectual disability
- PSMD12-related disorder
- Craniosynostosis syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.16
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.87
- DepMap mean gene effect
- -1.87
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Proteasome component (PCI) domain
- Winged helix-like DNA-binding domain superfamily
- Winged helix DNA-binding domain superfamily
- 26S Proteasome non-ATPase regulatory subunit 12/COP9 signalosome complex subunit 4
- PSMD12/CSN4-like, N-terminal
- PCI domain
- PSMD12/CSN4, N-terminal
- 26S proteasome regulatory subunit RPN5, C-terminal domain
- 26S proteasome regulatory subunit RPN5 C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PSMD12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PSMD12 as an antibody target. Whether an autoantibody or antibody against PSMD12 could matter depends on whether native PSMD12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PSMD12 is annotated as secreted, so native PSMD12 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label PSMD12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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