Seroatlas · Human Serome Atlas

PSMC1

26S proteasome regulatory subunit 4

Also known as: p56, PRS4_HUMAN, RPT2, S4

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P62191
Gene: PSMC1
Ensembl: ENSG00000100764
Chromosome: 14
Canonical length: 440 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,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 one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

440 residues, UniProt reviewed canonical sequence.

>P62191|PSMC1
     1  MGQSQSGGHG PGGGKKDDKD KKKKYEPPVP TRVGKKKKKT KGPDAASKLP LVTPHTQCRL
    61  KLLKLERIKD YLLMEEEFIR NQEQMKPLEE KQEEERSKVD DLRGTPMSVG TLEEIIDDNH
   121  AIVSTSVGSE HYVSILSFVD KDLLEPGCSV LLNHKVHAVI GVLMDDTDPL VTVMKVEKAP
   181  QETYADIGGL DNQIQEIKES VELPLTHPEY YEEMGIKPPK GVILYGPPGT GKTLLAKAVA
   241  NQTSATFLRV VGSELIQKYL GDGPKLVREL FRVAEEHAPS IVFIDEIDAI GTKRYDSNSG
   301  GEREIQRTML ELLNQLDGFD SRGDVKVIMA TNRIETLDPA LIRPGRIDRK IEFPLPDEKT
   361  KKRIFQIHTS RMTLADDVTL DDLIMAKDDL SGADIKAICT EAGLMALRER RMKVTNEDFK
   421  KSKENVLYKK QEGTPEGLYL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PSMC1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.38
Highest tissue expression: 295 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 295 nTPM
tongue: 133 nTPM
heart muscle: 109 nTPM
blood vessel: 89 nTPM
bone marrow: 81 nTPM
testis: 78 nTPM

Single-cell type

syncytiotrophoblasts: 103 nCPM
hepatocytes: 89 nCPM
epididymal principal cells: 83 nCPM
late primary spermatocytes: 77 nCPM
late spermatids: 73 nCPM
early spermatids: 71 nCPM

Immune cell

eosinophil: 160 nTPM
total PBMC: 117 nTPM
non-classical monocyte: 111 nTPM
neutrophil: 110 nTPM
classical monocyte: 102 nTPM
T-reg: 102 nTPM

Brain region

hypothalamus: 42 nTPM
pons: 41 nTPM
midbrain: 37 nTPM
cerebral cortex: 36 nTPM
white matter: 36 nTPM
cerebellum: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PSMC1.

Disease | AllUniProt

Conditions PSMC1 is implicated in, by any mechanism.

Birk-Aharoni syndrome (BKAH) MIM:620071

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 24 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

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): 0.14
gnomAD pLI: 1
gnomAD missense Z: 3.95
DepMap mean gene effect: -1.39
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

proteasome-mediated ubiquitin-dependent protein catabolic process

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PSMC1 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 PSMC1 as an antibody target. Whether an autoantibody or antibody against PSMC1 could matter depends on whether native PSMC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PSMC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PSMC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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