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

Gene ID: 9512, updated on 5-May-2024

Summary

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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Genomic context

See PMPCB in Genome Data Viewer
Location:
7q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (103297435..103347542)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104611886..104661980)
105.20220307 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

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
part_of mitochondrial processing peptidase complex NAS
Non-traceable Author Statement
more info
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

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_004279.3NP_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:46478
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:68215
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:220404
    Peptidase_M16_C; Peptidase M16 inactive domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_047421050.1XP_047277006.1  mitochondrial-processing peptidase subunit beta isoform X3

    UniProtKB/TrEMBL
    A0A9L9PXH0
  2. XM_005250717.4XP_005250774.1  mitochondrial-processing peptidase subunit beta isoform X1

    UniProtKB/TrEMBL
    A0A9L9PX42, A0A9L9PXI7
    Related
    ENSP00000516392.1, ENST00000706454.1
    Conserved Domains (3) summary
    COG0612
    Location:46469
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:68215
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:220404
    Peptidase_M16_C; Peptidase M16 inactive domain
  3. XM_006716181.5XP_006716244.1  mitochondrial-processing peptidase subunit beta isoform X2

    UniProtKB/TrEMBL
    A0A9L9PX42, A0A9L9PXH0
    Related
    ENSP00000516391.1, ENST00000706453.1
    Conserved Domains (3) summary
    COG0612
    Location:46469
    PqqL; Predicted Zn-dependent peptidase [General function prediction only]
    pfam00675
    Location:68215
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:220404
    Peptidase_M16_C; Peptidase M16 inactive domain
  4. XM_047421051.1XP_047277007.1  mitochondrial-processing peptidase subunit beta isoform X4

    UniProtKB/TrEMBL
    G3V0E4
    Related
    ENSP00000390035.1, ENST00000428154.5
  5. XM_047421052.1XP_047277008.1  mitochondrial-processing peptidase subunit beta isoform X5

    UniProtKB/TrEMBL
    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_054359371.1XP_054215346.1  mitochondrial-processing peptidase subunit beta isoform X3

    UniProtKB/TrEMBL
    A0A9L9PXH0
  2. XM_054359369.1XP_054215344.1  mitochondrial-processing peptidase subunit beta isoform X1

    UniProtKB/TrEMBL
    A0A9L9PXI7
  3. XM_054359370.1XP_054215345.1  mitochondrial-processing peptidase subunit beta isoform X2

    UniProtKB/TrEMBL
    A0A9L9PXH0
  4. XM_054359372.1XP_054215347.1  mitochondrial-processing peptidase subunit beta isoform X4

    UniProtKB/TrEMBL
    G3V0E4
  5. XM_054359373.1XP_054215348.1  mitochondrial-processing peptidase subunit beta isoform X5

    UniProtKB/TrEMBL
    A0A9L9PXG6