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Entry version 181 (07 Oct 2020)
Sequence version 2 (11 Apr 2003)
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Protein

Mitochondrial-processing peptidase subunit beta

Gene

PMPCB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (PubMed:29576218) (Probable). Preferentially, cleaves after an arginine at position P2 (By similarity). Required for PINK1 turnover by coupling PINK1 mitochondrial import and cleavage, which results in subsequent PINK1 proteolysis (PubMed:22354088).By similarity1 Publication2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Binding to PMPCA is required for catalytic activity.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi101Zinc; via tele nitrogenPROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei104Proton acceptorPROSITE-ProRule annotation1
Metal bindingi105Zinc; via tele nitrogenPROSITE-ProRule annotation1
Metal bindingi181ZincPROSITE-ProRule annotation1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei191Required for the specific determination of the substrate cleavage siteBy similarity1
Sitei195Required for the specific determination of the substrate cleavage siteBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
O75439

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1268020, Mitochondrial protein import
R-HSA-8949664, Processing of SMDT1

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
O75439

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O75439

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M16.003

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mitochondrial-processing peptidase subunit beta (EC:3.4.24.641 Publication)
Alternative name(s):
Beta-MPP
P-52
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PMPCB
Synonyms:MPPB
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000105819.13

Human Gene Nomenclature Database

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HGNCi
HGNC:9119, PMPCB

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603131, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75439

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs1436866272EnsemblClinVar.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:rs1461200360EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
9512

MalaCards human disease database

More...
MalaCardsi
PMPCB
MIMi617954, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000105819

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
569290, Multiple mitochondrial dysfunctions syndrome type 6

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33445

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O75439, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PMPCB

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 43Mitochondrion1 PublicationAdd BLAST43
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002677744 – 489Mitochondrial-processing peptidase subunit betaAdd BLAST446

Proteomic databases

The CPTAC Assay portal

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CPTACi
CPTAC-427

Encyclopedia of Proteome Dynamics

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EPDi
O75439

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O75439

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O75439

MaxQB - The MaxQuant DataBase

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MaxQBi
O75439

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O75439

PeptideAtlas

More...
PeptideAtlasi
O75439

PRoteomics IDEntifications database

More...
PRIDEi
O75439

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
50007

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O75439

MetOSite database of methionine sulfoxide sites

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MetOSitei
O75439

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O75439

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O75439

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000105819, Expressed in right adrenal gland cortex and 239 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75439, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75439, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000105819, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
114889, 117 interactors

Protein interaction database and analysis system

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IntActi
O75439, 56 interactors

Molecular INTeraction database

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MINTi
O75439

STRING: functional protein association networks

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STRINGi
9606.ENSP00000249269

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O75439, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O75439

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase M16 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0960, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000156608

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_009902_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O75439

KEGG Orthology (KO)

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KOi
K17732

Database of Orthologous Groups

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OrthoDBi
638125at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O75439

TreeFam database of animal gene trees

More...
TreeFami
TF105032

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011249, Metalloenz_LuxS/M16
IPR037718, MPP_beat
IPR011765, Pept_M16_N
IPR001431, Pept_M16_Zn_BS
IPR007863, Peptidase_M16_C

The PANTHER Classification System

More...
PANTHERi
PTHR11851:SF103, PTHR11851:SF103, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00675, Peptidase_M16, 1 hit
PF05193, Peptidase_M16_C, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF63411, SSF63411, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00143, INSULINASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i79250D016E60CFEE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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
Beta-MPP
PMPCB hCG_18192
490Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAZ6F8WAZ6_HUMAN
Mitochondrial-processing peptidase ...
PMPCB
202Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WBE1F8WBE1_HUMAN
Mitochondrial-processing peptidase ...
PMPCB
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEA6F8WEA6_HUMAN
Mitochondrial-processing peptidase ...
PMPCB
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEC8F8WEC8_HUMAN
Mitochondrial-processing peptidase ...
PMPCB
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs1436866272EnsemblClinVar.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:rs1461200360EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF054182 mRNA Translation: AAC39915.1
AC004668 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5730.1

NCBI Reference Sequences

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RefSeqi
NP_004270.2, NM_004279.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000249269; ENSP00000249269; ENSG00000105819

Database of genes from NCBI RefSeq genomes

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GeneIDi
9512

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9512

UCSC genome browser

More...
UCSCi
uc003vbl.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiO75439
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114889, 117 interactors
IntActiO75439, 56 interactors
MINTiO75439
STRINGi9606.ENSP00000249269

Protein family/group databases

MEROPSiM16.003

PTM databases

iPTMnetiO75439
MetOSiteiO75439
PhosphoSitePlusiO75439
SwissPalmiO75439

Polymorphism and mutation databases

BioMutaiPMPCB

Proteomic databases

CPTACiCPTAC-427
EPDiO75439
jPOSTiO75439
MassIVEiO75439
MaxQBiO75439
PaxDbiO75439
PeptideAtlasiO75439
PRIDEiO75439
ProteomicsDBi50007

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31179, 172 antibodies

The DNASU plasmid repository

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DNASUi
9512

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9512
DisGeNETi9512
EuPathDBiHostDB:ENSG00000105819.13

GeneCards: human genes, protein and diseases

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GeneCardsi
PMPCB
HGNCiHGNC:9119, PMPCB
HPAiENSG00000105819, Low tissue specificity
MalaCardsiPMPCB
MIMi603131, gene
617954, phenotype
neXtProtiNX_O75439
OpenTargetsiENSG00000105819
Orphaneti569290, Multiple mitochondrial dysfunctions syndrome type 6
PharmGKBiPA33445

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0960, Eukaryota
GeneTreeiENSGT00940000156608
HOGENOMiCLU_009902_4_0_1
InParanoidiO75439
KOiK17732
OrthoDBi638125at2759
PhylomeDBiO75439
TreeFamiTF105032

Enzyme and pathway databases

PathwayCommonsiO75439
ReactomeiR-HSA-1268020, Mitochondrial protein import
R-HSA-8949664, Processing of SMDT1
SignaLinkiO75439
SIGNORiO75439

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9512, 685 hits in 873 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PMPCB, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PMPCB

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9512
PharosiO75439, Tbio

Protein Ontology

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PROi
PR:O75439
RNActiO75439, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000105819, Expressed in right adrenal gland cortex and 239 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMPPB_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75439
Secondary accession number(s): O60416, Q96FV4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: April 11, 2003
Last modified: October 7, 2020
This is version 181 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

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