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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q22.1
Chromosome location (bp)
103297407 - 103331818
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (Probable) 1. 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 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Metalloprotease, Protease
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Hydrolases Peptidases Metallopeptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
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GO:0004222[metalloendopeptidase activity] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006508[proteolysis] GO:0006627[protein processing involved in protein targeting to mitochondrion] GO:0017087[mitochondrial processing peptidase complex] GO:0046872[metal ion binding]
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
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GO:0004222[metalloendopeptidase activity] GO:0006508[proteolysis] GO:0006627[protein processing involved in protein targeting to mitochondrion] GO:0017087[mitochondrial processing peptidase complex] GO:0046872[metal ion binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004222[metalloendopeptidase activity] GO:0006508[proteolysis] GO:0006627[protein processing involved in protein targeting to mitochondrion] GO:0017087[mitochondrial processing peptidase complex] GO:0046872[metal ion binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004222[metalloendopeptidase activity] GO:0006508[proteolysis] GO:0006627[protein processing involved in protein targeting to mitochondrion] GO:0017087[mitochondrial processing peptidase complex] GO:0046872[metal ion binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004222[metalloendopeptidase activity] GO:0006508[proteolysis] GO:0006627[protein processing involved in protein targeting to mitochondrion] GO:0017087[mitochondrial processing peptidase complex] GO:0046872[metal ion binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004222[metalloendopeptidase activity] GO:0006508[proteolysis] GO:0006627[protein processing involved in protein targeting to mitochondrion] GO:0017087[mitochondrial processing peptidase complex] GO:0046872[metal ion binding]
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004222[metalloendopeptidase activity] GO:0006508[proteolysis] GO:0006627[protein processing involved in protein targeting to mitochondrion] GO:0017087[mitochondrial processing peptidase complex] GO:0046872[metal ion binding]
The Human Protein Atlas project is funded
