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Aliases for PMPCB Gene

Aliases for PMPCB Gene

  • Peptidase, Mitochondrial Processing Beta Subunit 2 3 5
  • Peptidase (Mitochondrial Processing) Beta 2 3
  • Beta-MPP 3 4
  • MPPB 3 4
  • P-52 3 4
  • Mitochondrial Processing Peptidase Beta Subunit 3
  • Mitochondrial-Processing Peptidase Subunit Beta 3
  • EC 3.4.24.64 4
  • MPPP52 3
  • MPP11 3

External Ids for PMPCB Gene

Previous GeneCards Identifiers for PMPCB Gene

  • GC07P101421
  • GC07P102484
  • GC07P102498
  • GC07P102532
  • GC07P102725
  • GC07P102937
  • GC07P097300

Summaries for PMPCB Gene

Entrez Gene Summary for PMPCB 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]

GeneCards Summary for PMPCB Gene

PMPCB (Peptidase, Mitochondrial Processing Beta Subunit) is a Protein Coding gene. Diseases associated with PMPCB include Multiple Mitochondrial Dysfunctions Syndrome 6. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is UQCRC1.

UniProtKB/Swiss-Prot for PMPCB Gene

  • Cleaves presequences (transit peptides) from mitochondrial protein precursors.

Gene Wiki entry for PMPCB Gene

Additional gene information for PMPCB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMPCB Gene

Genomics for PMPCB Gene

GeneHancer (GH) Regulatory Elements for PMPCB Gene

Promoters and enhancers for PMPCB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J103146 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 679.6 -147.8 -147759 7.3 DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D ZNF610 GLIS1 NBN NR2C1 PMPCB NAPEPLD GC07P103150 LOC105375434 RPL23AP95 CRYZP1 ENSG00000213385 POLR2J3 DPY19L2P2 POLR2J2
GH07J103296 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.5 466 2.3 PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 GC07M103298 PMPCB ORC5 ENSG00000213385 CRYZP1 PRKRIP1 DNAJC2 NAPEPLD ARMC10 RASA4
GH07J102571 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 41.1 -724.9 -724890 1.5 ARNT SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF213 E2F8 ZNF416 ZNF207 POLR2J3 CRYZP1 ENSG00000213385 PRKRIP1 DNAJC2 PMPCB ENSG00000239486 FAM185A NAPEPLD LRWD1
GH07J103343 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 31.1 +47.0 47007 2.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 SSRP1 DNAJC2 PSMC2 CRYZP1 ENSG00000213385 PMPCB ORC5 POLR2J3 ENSG00000239486 PRKRIP1 POLR2J2
GH07J103073 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.5 -222.3 -222327 2.7 HDGF CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ARMC10 FBXL13 ENSG00000213385 CRYZP1 PRKRIP1 PMPCB POLR2J2 POLR2J3 FAM185A DNAJC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMPCB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PMPCB gene promoter:
  • POU2F1a
  • POU2F1
  • c-Myb
  • GCNF-2
  • GCNF-1
  • GCNF
  • AML1a
  • p53
  • ITF-2
  • Tal-1beta

Genomic Locations for PMPCB Gene

Genomic Locations for PMPCB Gene
chr7:103,297,422-103,329,902
(GRCh38/hg38)
Size:
32,481 bases
Orientation:
Plus strand
chr7:102,937,869-102,969,958
(GRCh37/hg19)
Size:
32,090 bases
Orientation:
Plus strand

Genomic View for PMPCB Gene

Genes around PMPCB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMPCB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMPCB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMPCB Gene

Proteins for PMPCB Gene

  • Protein details for PMPCB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75439-MPPB_HUMAN
    Recommended name:
    Mitochondrial-processing peptidase subunit beta
    Protein Accession:
    O75439
    Secondary Accessions:
    • O60416
    • Q96FV4

    Protein attributes for PMPCB Gene

    Size:
    489 amino acids
    Molecular mass:
    54366 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Heterodimer of alpha and beta subunits.

neXtProt entry for PMPCB Gene

Post-translational modifications for PMPCB Gene

  • Ubiquitination at isoforms=472, isoforms=235, isoforms=224, and Lys95
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PMPCB Gene

Domains & Families for PMPCB Gene

Gene Families for PMPCB Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O75439

UniProtKB/Swiss-Prot:

MPPB_HUMAN :
  • Belongs to the peptidase M16 family.
Family:
  • Belongs to the peptidase M16 family.
genes like me logo Genes that share domains with PMPCB: view

Function for PMPCB Gene

Molecular function for PMPCB Gene

UniProtKB/Swiss-Prot Function:
Cleaves presequences (transit peptides) from mitochondrial protein precursors.
UniProtKB/Swiss-Prot CatalyticActivity:
Release of N-terminal transit peptides from precursor proteins imported into the mitochondrion, typically with Arg in position P2.
GENATLAS Biochemistry:
peptidase (mitochondrial processing) beta,M phase phosphoprotein

Enzyme Numbers (IUBMB) for PMPCB Gene

Phenotypes From GWAS Catalog for PMPCB Gene

Gene Ontology (GO) - Molecular Function for PMPCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IEA --
GO:0004222 metalloendopeptidase activity TAS,IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IBA --
genes like me logo Genes that share ontologies with PMPCB: view
genes like me logo Genes that share phenotypes with PMPCB: view

Animal Models for PMPCB Gene

MGI Knock Outs for PMPCB:
  • Pmpcb Pmpcb<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for PMPCB Gene

miRTarBase miRNAs that target PMPCB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMPCB

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PMPCB Gene

Localization for PMPCB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMPCB Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMPCB gene
Compartment Confidence
mitochondrion 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PMPCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS,IEA --
GO:0005750 mitochondrial respiratory chain complex III IBA --
GO:0005759 mitochondrial matrix IEA --
GO:0017087 mitochondrial processing peptidase complex IEA --
genes like me logo Genes that share ontologies with PMPCB: view

Pathways & Interactions for PMPCB Gene

genes like me logo Genes that share pathways with PMPCB: view

Pathways by source for PMPCB Gene

2 Reactome pathways for PMPCB Gene

Gene Ontology (GO) - Biological Process for PMPCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c IBA --
GO:0006508 proteolysis IEA --
GO:0006627 protein processing involved in protein targeting to mitochondrion IEA --
GO:0006851 mitochondrial calcium ion transmembrane transport TAS --
GO:0009060 aerobic respiration IBA --
genes like me logo Genes that share ontologies with PMPCB: view

No data available for SIGNOR curated interactions for PMPCB Gene

Drugs & Compounds for PMPCB Gene

No Compound Related Data Available

Transcripts for PMPCB Gene

mRNA/cDNA for PMPCB Gene

Unigene Clusters for PMPCB Gene

Peptidase (mitochondrial processing) beta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMPCB

Alternative Splicing Database (ASD) splice patterns (SP) for PMPCB Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5: - - - - - -
SP6:
SP7:
SP8:

Relevant External Links for PMPCB Gene

GeneLoc Exon Structure for
PMPCB
ECgene alternative splicing isoforms for
PMPCB

Expression for PMPCB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PMPCB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PMPCB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PMPCB Gene



Protein tissue co-expression partners for PMPCB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PMPCB Gene:

PMPCB

SOURCE GeneReport for Unigene cluster for PMPCB Gene:

Hs.184211

Evidence on tissue expression from TISSUES for PMPCB Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Blood(4.3)
  • Lung(2.8)
  • Intestine(2.5)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with PMPCB: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PMPCB Gene

Orthologs for PMPCB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PMPCB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMPCB 34 33
  • 99.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PMPCB 34 33
  • 92.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PMPCB 34 33
  • 90.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pmpcb 16 34 33
  • 85.48 (n)
rat
(Rattus norvegicus)
Mammalia Pmpcb 33
  • 83.71 (n)
oppossum
(Monodelphis domestica)
Mammalia PMPCB 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMPCB 34 33
  • 76.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMPCB 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pmpcb 33
  • 75.65 (n)
Str.15357 33
zebrafish
(Danio rerio)
Actinopterygii pmpcb 34 33
  • 70.54 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10147 33
fruit fly
(Drosophila melanogaster)
Insecta CG3731 34 35 33
  • 60.67 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000935 33
  • 58.66 (n)
worm
(Caenorhabditis elegans)
Secernentea mppb-1 34 33
  • 55.56 (n)
ManyToMany
ZC410.2 35
  • 50 (a)
ucr-1 34
  • 38 (a)
ManyToMany
F56D2.1 35
  • 38 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18095g 33
  • 54.21 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAS1 36 34 33
  • 52.94 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL138C 33
  • 51.69 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MPPBETA 33
  • 56.04 (n)
soybean
(Glycine max)
eudicotyledons Gma.1751 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6917 33
rice
(Oryza sativa)
Liliopsida Os03g0212700 33
  • 55 (n)
Os.4124 33
corn
(Zea mays)
Liliopsida Zm.5860 33
barley
(Hordeum vulgare)
Liliopsida Hv.5304 33
wheat
(Triticum aestivum)
Liliopsida Ta.27578 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3431 34
  • 63 (a)
OneToMany
Cin.4874 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes qcr1 33
  • 54.36 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02549 33
  • 53.68 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4874 33
Species where no ortholog for PMPCB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PMPCB Gene

ENSEMBL:
Gene Tree for PMPCB (if available)
TreeFam:
Gene Tree for PMPCB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PMPCB: view image

Paralogs for PMPCB Gene

Paralogs for PMPCB Gene

(3) SIMAP similar genes for PMPCB Gene using alignment to 8 proteins:

  • MPPB_HUMAN
  • E7ERZ4_HUMAN
  • F8WAZ6_HUMAN
  • F8WBE1_HUMAN
  • F8WEA6_HUMAN
  • F8WEC8_HUMAN
  • G3V0E4_HUMAN
  • Q96CP5_HUMAN
genes like me logo Genes that share paralogs with PMPCB: view

Variants for PMPCB Gene

Sequence variations from dbSNP and Humsavar for PMPCB Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000022831 -- 103,296,501(+) C/A upstream_transcript_variant
rs1000267442 -- 103,320,966(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000442108 -- 103,315,041(+) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000732248 -- 103,301,728(+) A/G intron_variant
rs1000784337 -- 103,321,271(+) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PMPCB Gene

Variant ID Type Subtype PubMed ID
nsv831084 CNV gain 17160897

Variation tolerance for PMPCB Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.11; 69.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PMPCB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMPCB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMPCB Gene

Disorders for PMPCB Gene

MalaCards: The human disease database

(1) MalaCards diseases for PMPCB Gene - From: OMIM and ClinVar

Disorder Aliases PubMed IDs
multiple mitochondrial dysfunctions syndrome 6
  • mmds6
- elite association - COSMIC cancer census association via MalaCards
Search PMPCB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PMPCB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PMPCB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PMPCB Gene

Publications for PMPCB Gene

  1. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58
  4. Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. (PMID: 9700204) Koutnikova H … Koenig M (Human molecular genetics 1998) 3 22 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for PMPCB Gene

Sources for PMPCB Gene

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