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Protein

Mitochondrial-processing peptidase subunit beta

Gene

PMPCB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins (PubMed:29576218). Most MPP cleavage sites follow an arginine at position -2 (By similarity).By similarity1 Publication

Catalytic activityi

Release of N-terminal transit peptides from precursor proteins imported into the mitochondrion, typically with Arg in position P2.

Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi101ZincPROSITE-ProRule annotation1
Active sitei104Proton acceptorPROSITE-ProRule annotation1
Metal bindingi105ZincPROSITE-ProRule annotation1
Metal bindingi181ZincPROSITE-ProRule annotation1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • metalloendopeptidase activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import
R-HSA-8949664 Processing of SMDT1
SignaLinkiO75439

Protein family/group databases

MEROPSiM16.003

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial-processing peptidase subunit beta (EC:3.4.24.64)
Alternative name(s):
Beta-MPP
P-52
Gene namesi
Name:PMPCB
Synonyms:MPPB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000105819.13
HGNCiHGNC:9119 PMPCB
MIMi603131 gene
neXtProtiNX_O75439

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Multiple mitochondrial dysfunctions syndrome 6 (MMDS6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, neurodegenerative disorder characterized by basal ganglia lesions, cerebellar atrophy, and neurologic regression in the first year of life. Common features include truncal hypotonia, lack of independent ambulation, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity.
See also OMIM:617954
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080804175R → C in MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast. 1 PublicationCorresponds to variant dbSNP:rs145596167EnsemblClinVar.1
Natural variantiVAR_080805175R → H in MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast. 1 PublicationCorresponds to variant dbSNP:rs200188353EnsemblClinVar.1
Natural variantiVAR_080806177V → G in MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast. 1 PublicationCorresponds to variant dbSNP:rs1436866272Ensembl.1
Natural variantiVAR_080807201A → P in MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast. 1 PublicationCorresponds to variant dbSNP:rs146343535EnsemblClinVar.1
Natural variantiVAR_080808422I → T in MMDS6; small decrease in protein level; impaired frataxin/FXN processing, leading to the accumulation of an intermediate form, called iFXN. 1 PublicationCorresponds to variant dbSNP:rs1461200360Ensembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi9512
MalaCardsiPMPCB
MIMi617954 phenotype
OpenTargetsiENSG00000105819
PharmGKBiPA33445

Polymorphism and mutation databases

BioMutaiPMPCB

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 45Mitochondrion1 PublicationAdd BLAST45
ChainiPRO_000002677746 – 489Mitochondrial-processing peptidase subunit betaAdd BLAST444

Proteomic databases

EPDiO75439
MaxQBiO75439
PaxDbiO75439
PeptideAtlasiO75439
PRIDEiO75439
ProteomicsDBi50007

PTM databases

iPTMnetiO75439
PhosphoSitePlusiO75439

Expressioni

Gene expression databases

BgeeiENSG00000105819 Expressed in 230 organ(s), highest expression level in right adrenal gland cortex
CleanExiHS_PMPCB
ExpressionAtlasiO75439 baseline and differential
GenevisibleiO75439 HS

Organism-specific databases

HPAiHPA040674
HPA074168

Interactioni

Subunit structurei

Heterodimer of PMPCA (alpha) and PMPCB (beta) subunits, forming the mitochondrial processing protease (MPP) in which PMPCA is involved in substrate recognition and binding and PMPCB is the catalytic subunit.By similarity

Protein-protein interaction databases

BioGridi114889, 82 interactors
IntActiO75439, 35 interactors
MINTiO75439
STRINGi9606.ENSP00000249269

Structurei

3D structure databases

ProteinModelPortaliO75439
SMRiO75439
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase M16 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0960 Eukaryota
COG0612 LUCA
GeneTreeiENSGT00550000074701
HOGENOMiHOG000242450
HOVERGENiHBG006393
InParanoidiO75439
KOiK17732
PhylomeDBiO75439
TreeFamiTF105032

Family and domain databases

InterProiView protein in InterPro
IPR011249 Metalloenz_LuxS/M16
IPR037718 MPP_beat
IPR011765 Pept_M16_N
IPR001431 Pept_M16_Zn_BS
IPR007863 Peptidase_M16_C
PANTHERiPTHR11851:SF103 PTHR11851:SF103, 1 hit
PfamiView protein in Pfam
PF00675 Peptidase_M16, 1 hit
PF05193 Peptidase_M16_C, 1 hit
SUPFAMiSSF63411 SSF63411, 2 hits
PROSITEiView protein in PROSITE
PS00143 INSULINASE, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

O75439-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAAAARVVL SSAARRRLWG FSESLLIRGA AGRSLYFGEN RLRSTQAATQ
60 70 80 90 100
VVLNVPETRV TCLESGLRVA SEDSGLSTCT VGLWIDAGSR YENEKNNGTA
110 120 130 140 150
HFLEHMAFKG TKKRSQLDLE LEIENMGAHL NAYTSREQTV YYAKAFSKDL
160 170 180 190 200
PRAVEILADI IQNSTLGEAE IERERGVILR EMQEVETNLQ EVVFDYLHAT
210 220 230 240 250
AYQNTALGRT ILGPTENIKS ISRKDLVDYI TTHYKGPRIV LAAAGGVSHD
260 270 280 290 300
ELLDLAKFHF GDSLCTHKGE IPALPPCKFT GSEIRVRDDK MPLAHLAIAV
310 320 330 340 350
EAVGWAHPDT ICLMVANTLI GNWDRSFGGG MNLSSKLAQL TCHGNLCHSF
360 370 380 390 400
QSFNTSYTDT GLWGLYMVCE SSTVADMLHV VQKEWMRLCT SVTESEVARA
410 420 430 440 450
RNLLKTNMLL QLDGSTPICE DIGRQMLCYN RRIPIPELEA RIDAVNAETI
460 470 480
REVCTKYIYN RSPAIAAVGP IKQLPDFKQI RSNMCWLRD
Length:489
Mass (Da):54,366
Last modified:April 11, 2003 - v2
Checksum:i79250D016E60CFEE
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V0E4G3V0E4_HUMAN
Mitochondrial-processing peptidase ...
PMPCB hCG_18192
490Annotation score:
F8WAZ6F8WAZ6_HUMAN
Mitochondrial-processing peptidase ...
PMPCB
202Annotation score:
F8WEA6F8WEA6_HUMAN
Mitochondrial-processing peptidase ...
PMPCB
119Annotation score:
F8WBE1F8WBE1_HUMAN
Mitochondrial-processing peptidase ...
PMPCB
122Annotation score:
F8WEC8F8WEC8_HUMAN
Mitochondrial-processing peptidase ...
PMPCB
122Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti16 – 17RR → GG in AAC39915 (PubMed:9653160).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080804175R → C in MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast. 1 PublicationCorresponds to variant dbSNP:rs145596167EnsemblClinVar.1
Natural variantiVAR_080805175R → H in MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast. 1 PublicationCorresponds to variant dbSNP:rs200188353EnsemblClinVar.1
Natural variantiVAR_080806177V → G in MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast. 1 PublicationCorresponds to variant dbSNP:rs1436866272Ensembl.1
Natural variantiVAR_080807201A → P in MMDS6; exhibits temperature-sensitive defect in presequence processing activity, when tested in yeast. 1 PublicationCorresponds to variant dbSNP:rs146343535EnsemblClinVar.1
Natural variantiVAR_051572396E → D. Corresponds to variant dbSNP:rs3087615Ensembl.1
Natural variantiVAR_080808422I → T in MMDS6; small decrease in protein level; impaired frataxin/FXN processing, leading to the accumulation of an intermediate form, called iFXN. 1 PublicationCorresponds to variant dbSNP:rs1461200360Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF054182 mRNA Translation: AAC39915.1
AC004668 Genomic DNA No translation available.
CCDSiCCDS5730.1
RefSeqiNP_004270.2, NM_004279.2
UniGeneiHs.184211

Genome annotation databases

EnsembliENST00000249269; ENSP00000249269; ENSG00000105819
GeneIDi9512
KEGGihsa:9512
UCSCiuc003vbl.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF054182 mRNA Translation: AAC39915.1
AC004668 Genomic DNA No translation available.
CCDSiCCDS5730.1
RefSeqiNP_004270.2, NM_004279.2
UniGeneiHs.184211

3D structure databases

ProteinModelPortaliO75439
SMRiO75439
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114889, 82 interactors
IntActiO75439, 35 interactors
MINTiO75439
STRINGi9606.ENSP00000249269

Protein family/group databases

MEROPSiM16.003

PTM databases

iPTMnetiO75439
PhosphoSitePlusiO75439

Polymorphism and mutation databases

BioMutaiPMPCB

Proteomic databases

EPDiO75439
MaxQBiO75439
PaxDbiO75439
PeptideAtlasiO75439
PRIDEiO75439
ProteomicsDBi50007

Protocols and materials databases

DNASUi9512
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000249269; ENSP00000249269; ENSG00000105819
GeneIDi9512
KEGGihsa:9512
UCSCiuc003vbl.4 human

Organism-specific databases

CTDi9512
DisGeNETi9512
EuPathDBiHostDB:ENSG00000105819.13
GeneCardsiPMPCB
H-InvDBiHIX0006969
HGNCiHGNC:9119 PMPCB
HPAiHPA040674
HPA074168
MalaCardsiPMPCB
MIMi603131 gene
617954 phenotype
neXtProtiNX_O75439
OpenTargetsiENSG00000105819
PharmGKBiPA33445
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0960 Eukaryota
COG0612 LUCA
GeneTreeiENSGT00550000074701
HOGENOMiHOG000242450
HOVERGENiHBG006393
InParanoidiO75439
KOiK17732
PhylomeDBiO75439
TreeFamiTF105032

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import
R-HSA-8949664 Processing of SMDT1
SignaLinkiO75439

Miscellaneous databases

ChiTaRSiPMPCB human
GeneWikiiPMPCB
GenomeRNAii9512
PROiPR:O75439
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105819 Expressed in 230 organ(s), highest expression level in right adrenal gland cortex
CleanExiHS_PMPCB
ExpressionAtlasiO75439 baseline and differential
GenevisibleiO75439 HS

Family and domain databases

InterProiView protein in InterPro
IPR011249 Metalloenz_LuxS/M16
IPR037718 MPP_beat
IPR011765 Pept_M16_N
IPR001431 Pept_M16_Zn_BS
IPR007863 Peptidase_M16_C
PANTHERiPTHR11851:SF103 PTHR11851:SF103, 1 hit
PfamiView protein in Pfam
PF00675 Peptidase_M16, 1 hit
PF05193 Peptidase_M16_C, 1 hit
SUPFAMiSSF63411 SSF63411, 2 hits
PROSITEiView protein in PROSITE
PS00143 INSULINASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMPPB_HUMAN
AccessioniPrimary (citable) accession number: O75439
Secondary accession number(s): O60416, Q96FV4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: April 11, 2003
Last modified: November 7, 2018
This is version 166 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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