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

    Gene ID: 9512, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See PMPCB in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (103297435..103347542)
    RS_2024_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

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    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. 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
    4. 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
    5. Mitochondrial Protein Quality Control Mechanisms. Jadiya P, et al. Genes (Basel), 2020 May 18. PMID 32443488, Free PMC Article

    See all (80) 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

    Phenotypes

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    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein processing involved in protein targeting to mitochondrion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial processing peptidase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondrial-processing peptidase subunit beta
    Names
    mitochondrial processing peptidase beta subunit
    peptidase (mitochondrial processing) beta
    peptidase, mitochondrial processing beta subunit
    NP_004270.2
    XP_005250774.1
    XP_006716244.1
    XP_047277006.1
    XP_047277007.1
    XP_047277008.1
    XP_054215344.1
    XP_054215345.1
    XP_054215346.1
    XP_054215347.1
    XP_054215348.1

    NCBI Reference Sequences (RefSeq)

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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_004279.3 → NP_004270.2  mitochondrial-processing peptidase subunit beta 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_2024_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_047421051.1 → XP_047277007.1  mitochondrial-processing peptidase subunit beta isoform X4

      UniProtKB/TrEMBL
      A0A9L9PX42, G3V0E4
      Related
      ENSP00000390035.1, ENST00000428154.5

    5. 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_054359372.1 → XP_054215347.1  mitochondrial-processing peptidase subunit beta isoform X4

      UniProtKB/TrEMBL
      A0A9L9PX42, G3V0E4

    5. 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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