Seroatlas · Human Serome Atlas

PMPCB

Mitochondrial-processing peptidase subunit beta

Also known as: beta-MPP, MAS1, MPPB, MPPB_HUMAN, MPPP52

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

Protein identityUniProt · HPA

UniProt accession: O75439
Gene: PMPCB
Ensembl: ENSG00000105819
Chromosome: 7
Canonical length: 489 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

489 residues, UniProt reviewed canonical sequence.

>O75439|PMPCB
     1  MAAAAARVVL SSAARRRLWG FSESLLIRGA AGRSLYFGEN RLRSTQAATQ VVLNVPETRV
    61  TCLESGLRVA SEDSGLSTCT VGLWIDAGSR YENEKNNGTA HFLEHMAFKG TKKRSQLDLE
   121  LEIENMGAHL NAYTSREQTV YYAKAFSKDL PRAVEILADI IQNSTLGEAE IERERGVILR
   181  EMQEVETNLQ EVVFDYLHAT AYQNTALGRT ILGPTENIKS ISRKDLVDYI TTHYKGPRIV
   241  LAAAGGVSHD ELLDLAKFHF GDSLCTHKGE IPALPPCKFT GSEIRVRDDK MPLAHLAIAV
   301  EAVGWAHPDT ICLMVANTLI GNWDRSFGGG MNLSSKLAQL TCHGNLCHSF QSFNTSYTDT
   361  GLWGLYMVCE SSTVADMLHV VQKEWMRLCT SVTESEVARA RNLLKTNMLL QLDGSTPICE
   421  DIGRQMLCYN RRIPIPELEA RIDAVNAETI REVCTKYIYN RSPAIAAVGP IKQLPDFKQI
   481  RSNMCWLRD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PMPCB 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): 0.28
Highest tissue expression: 44 nTPM

Expression across tissuesHPA

Tissue

liver: 44 nTPM
heart muscle: 43 nTPM
kidney: 42 nTPM
bone marrow: 41 nTPM
parathyroid gland: 39 nTPM
adrenal gland: 38 nTPM

Single-cell type

late primary spermatocytes: 231 nCPM
cytotrophoblasts: 161 nCPM
syncytiotrophoblasts: 151 nCPM
epicardial cells: 136 nCPM
decidual stromal cells: 114 nCPM
erythrocyte progenitors: 109 nCPM

Immune cell

T-reg: 33 nTPM
naive CD4 T-cell: 28 nTPM
memory B-cell: 28 nTPM
myeloid DC: 27 nTPM
total PBMC: 24 nTPM
intermediate monocyte: 24 nTPM

Brain region

choroid plexus: 27 nTPM
thalamus: 17 nTPM
white matter: 16 nTPM
cerebral cortex: 15 nTPM
basal ganglia: 15 nTPM
medulla oblongata: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PMPCB.

Disease | AllUniProt

Conditions PMPCB is implicated in, by any mechanism.

Multiple mitochondrial dysfunctions syndrome 6 (MMDS6) MIM:617954

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 192 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Multiple mitochondrial dysfunctions syndrome 6
Inborn genetic diseases
PMPCB-related mitochondrial disorder
PMPCB-related ataxia
Lung cancer

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): 0.9
gnomAD pLI: 0
gnomAD missense Z: -0.22
DepMap mean gene effect: -1.66
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PMPCB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

PMPCA

Antibody and autoantibody relevanceSeroatlas analysis

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

PMPCB 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 PMPCB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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