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PMPCB peptidase, mitochondrial processing subunit beta [ Homo sapiens (human) ]

Gene ID: 9512, updated on 25-Nov-2025
Official Symbol
PMPCBprovided by HGNC
Official Full Name
peptidase, mitochondrial processing subunit betaprovided by HGNC
Primary source
HGNC:HGNC:9119
See related
Ensembl:ENSG00000105819 MIM:603131; AllianceGenome:HGNC:9119
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MAS1; MPPB; P-52; MPP11; MPPP52; Beta-MPP
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 16.7), kidney (RPKM 15.9) and 25 other tissues See more
Orthologs
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See PMPCB in Genome Data Viewer
Location:
7q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (103297435..103347542)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104611886..104661980)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102937882..102955133)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375434 Neighboring gene ribosomal protein L23a pseudogene 95 Neighboring gene DPY19L2 pseudogene 2 Neighboring gene S100A11 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102921045-102921566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26441 Neighboring gene DnaJ heat shock protein family (Hsp40) member C2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26442 Neighboring gene ribosomal protein S29 pseudogene 16 Neighboring gene solute carrier family 26 member 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:103021047-103021334 Neighboring gene proteasome 26S subunit, ATPase 2 Neighboring gene Sharpr-MPRA regulatory region 10264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:103086027-103086603 Neighboring gene SLC26A5 antisense RNA 1

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. Koutnikova H, et al. Hum Mol Genet, 1998 Sep. PMID 9700204
  2. PMPCB Silencing Sensitizes HCC Tumor Cells to Sorafenib Therapy. Zheng JF, et al. Mol Ther, 2019 Oct 2. PMID 31337603, Free PMC Article
  3. The human silent information regulator (Sir)2 homologue hSIRT3 is a mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase. Schwer B, et al. J Cell Biol, 2002 Aug 19. PMID 12186850, Free PMC Article
  4. Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood. Vögtle FN, et al. Am J Hum Genet, 2018 Apr 5. PMID 29576218, Free PMC Article
  5. Mitochondrial Protein Quality Control Mechanisms. Jadiya P, et al. Genes (Basel), 2020 May 18. PMID 32443488, Free PMC Article

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Silencing PMPCB increased hepatocellular carcinoma (HCC) susceptibility to sorafenib, decreased tumor burden, and improved survival. These results suggest contributory role of the PMPCB in sorafenib resistance.
    Title: PMPCB Silencing Sensitizes HCC Tumor Cells to Sorafenib Therapy.
  2. biallelic mutations in PMPCB cause defects in MPP proteolytic activity leading to dysregulation of iron-sulfur cluster biogenesis and triggering a complex neurological phenotype of neurodegeneration in early childhood.
    Title: Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
  3. OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase.
    Title: OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase.
  4. These results highlight a new role for MPP in PINK1 import and mitochondrial quality control via the PINK1-Parkin pathway.
    Title: Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  6. maintained expression and even up-regulation of some (PNPT1, PMPCB, HMMR/RHAMM, BSG and ERCC1) tumor associated antigens in CD40-activated leukemic cells.
    Title: Acute lymphoblastic leukemia-derived dendritic cells express tumor associated antigens: PNPT1, PMPCB, RHAMM, BSG and ERCC1.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Multiple mitochondrial dysfunctions syndrome 6
MedGen: C4693741 OMIM: 617954 GeneReviews: Not available
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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metalloendopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables metalloendopeptidase activity TAS
Traceable Author Statement
more info
  
enables metallopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables signal peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in mitochondrial calcium ion transmembrane transport TAS
Traceable Author Statement
more info
  
involved_in protein processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein processing involved in protein targeting to mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein processing involved in protein targeting to mitochondrion IEA
Inferred from Electronic Annotation
more info
  
involved_in protein processing involved in protein targeting to mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
part_of mitochondrial processing peptidase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial processing peptidase complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 
Preferred Names
mitochondrial-processing peptidase subunit beta
Names
mitochondrial processing peptidase beta subunit
peptidase (mitochondrial processing) beta
peptidase, mitochondrial processing beta subunit
NP_001425160.1
NP_004270.2
XP_005250774.1
XP_006716244.1
XP_047277006.1
XP_047277008.1
XP_054215344.1
XP_054215345.1
XP_054215346.1
XP_054215348.1

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001438231.1 → NP_001425160.1  mitochondrial-processing peptidase subunit beta isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC004668
    UniProtKB/TrEMBL
    A0A9L9PX42, G3V0E4
    Related
    ENSP00000390035.1, ENST00000428154.5

  2. NM_004279.3 → NP_004270.2  mitochondrial-processing peptidase subunit beta isoform 1 precursor

    See identical proteins and their annotated locations for NP_004270.2

    Status: REVIEWED

    Source sequence(s)
    AC004668, AF054182, AI261792, AK000994, BC014079, BP311561
    Consensus CDS
    CCDS5730.1
    UniProtKB/Swiss-Prot
    O60416, O75439, Q96FV4
    UniProtKB/TrEMBL
    B3KM34
    Related
    ENSP00000249269.4, ENST00000249269.9
    Conserved Domains (3) summary
    COG0612
    Location:46 → 478
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:68 → 215
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:220 → 404
    Peptidase_M16_C; Peptidase M16 inactive domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    103297435..103347542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421050.1 → XP_047277006.1  mitochondrial-processing peptidase subunit beta isoform X3

    UniProtKB/TrEMBL
    A0A9L9PX42, A0A9L9PXH0

  2. XM_005250717.4 → XP_005250774.1  mitochondrial-processing peptidase subunit beta isoform X1

    UniProtKB/TrEMBL
    A0A9L9PX42, A0A9L9PXI7
    Related
    ENSP00000516392.1, ENST00000706454.1
    Conserved Domains (3) summary
    COG0612
    Location:46 → 469
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:68 → 215
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:220 → 404
    Peptidase_M16_C; Peptidase M16 inactive domain

  3. XM_006716181.5 → XP_006716244.1  mitochondrial-processing peptidase subunit beta isoform X2

    UniProtKB/TrEMBL
    A0A9L9PX42, A0A9L9PXH0
    Related
    ENSP00000516391.1, ENST00000706453.1
    Conserved Domains (3) summary
    COG0612
    Location:46 → 469
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:68 → 215
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:220 → 404
    Peptidase_M16_C; Peptidase M16 inactive domain

  4. XM_047421052.1 → XP_047277008.1  mitochondrial-processing peptidase subunit beta isoform X5

    UniProtKB/TrEMBL
    A0A9L9PX50, A0A9L9PXG6
    Related
    ENSP00000516381.1, ENST00000706439.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    104611886..104661980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359371.1 → XP_054215346.1  mitochondrial-processing peptidase subunit beta isoform X3

    UniProtKB/TrEMBL
    A0A9L9PX42, A0A9L9PXH0

  2. XM_054359369.1 → XP_054215344.1  mitochondrial-processing peptidase subunit beta isoform X1

    UniProtKB/TrEMBL
    A0A9L9PX42, A0A9L9PXI7

  3. XM_054359370.1 → XP_054215345.1  mitochondrial-processing peptidase subunit beta isoform X2

    UniProtKB/TrEMBL
    A0A9L9PX42, A0A9L9PXH0

  4. XM_054359373.1 → XP_054215348.1  mitochondrial-processing peptidase subunit beta isoform X5

    UniProtKB/TrEMBL
    A0A9L9PX50, A0A9L9PXG6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75439.2 GenPept UniProtKB/Swiss-Prot:O75439

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