Q99797 · MIPEP_HUMAN
- ProteinMitochondrial intermediate peptidase
- GeneMIPEP
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids713 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Cleaves proteins, imported into the mitochondrion, to their mature size.
Catalytic activity
Cofactor
Note: Binds 1 zinc ion.
Activity regulation
Activity is divalent cation-dependent. It is stimulated by manganese, magnesium or calcium ions and reversibly inhibited by zinc, cobalt and iron (By similarity).
Features
Showing features for binding site, active site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial matrix | |
Cellular Component | mitochondrion | |
Molecular Function | metal ion binding | |
Molecular Function | metalloendopeptidase activity | |
Biological Process | peptide metabolic process | |
Biological Process | protein processing involved in protein targeting to mitochondrion |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameMitochondrial intermediate peptidase
- EC number
- Short namesMIP
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ99797
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Combined oxidative phosphorylation deficiency 31 (COXPD31)
- Note
- DescriptionAn autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood.
- See alsoMIM:617228
Natural variants in COXPD31
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_078009 | 71 | L>Q | in COXPD31; dbSNP:rs1057518740 | |
VAR_078010 | 306 | L>F | in COXPD31; dbSNP:rs143912947 | |
VAR_078011 | 343 | K>E | in COXPD31; dbSNP:rs1057518741 | |
VAR_078012 | 512 | H>D | in COXPD31; uncertain significance; dbSNP:rs779598020 | |
VAR_078013 | 582 | L>R | in COXPD31; uncertain significance; dbSNP:rs1057518739 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_078009 | 71 | in COXPD31; dbSNP:rs1057518740 | |||
Sequence: L → Q | ||||||
Natural variant | VAR_038934 | 137 | in dbSNP:rs2312296 | |||
Sequence: A → V | ||||||
Natural variant | VAR_078010 | 306 | in COXPD31; dbSNP:rs143912947 | |||
Sequence: L → F | ||||||
Natural variant | VAR_038935 | 340 | in dbSNP:rs11551114 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_078011 | 343 | in COXPD31; dbSNP:rs1057518741 | |||
Sequence: K → E | ||||||
Natural variant | VAR_038936 | 453 | in dbSNP:rs12858248 | |||
Sequence: R → H | ||||||
Natural variant | VAR_038937 | 488 | in dbSNP:rs7333040 | |||
Sequence: S → G | ||||||
Natural variant | VAR_078012 | 512 | in COXPD31; uncertain significance; dbSNP:rs779598020 | |||
Sequence: H → D | ||||||
Natural variant | VAR_078013 | 582 | in COXPD31; uncertain significance; dbSNP:rs1057518739 | |||
Sequence: L → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 866 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transit peptide | 1-35 | Mitochondrion | ||||
Sequence: MLCVGRLGGLGARAAALPPRRAGRGSLEAGIRARR | ||||||
Chain | PRO_0000028579 | 36-713 | Mitochondrial intermediate peptidase | |||
Sequence: VSTSWSPVGAAFNVKPQGSRLDLFGERRGLFGVPELSAPEGFHIAQEKALRKTELLVDRACSTPPGPQTVLIFDELSDSLCRVADLADFVKIAHPEPAFREAAEEACRSIGTMVEKLNTNVDLYQSLQKLLADKKLVDSLDPETRRVAELFMFDFEISGIHLDKEKRKRAVDLNVKILDLSSTFLMGTNFPNKIEKHLLPEHIRRNFTSAGDHIIIDGLHAESPDDLVREAAYKIFLYPNAGQLKCLEELLSSRDLLAKLVGYSTFSHRALQGTIAKNPETVMQFLEKLSDKLSERTLKDFEMIRGMKMKLNPQNSEVMPWDPPYYSGVIRAERYNIEPSLYCPFFSLGACMEGLNILLNRLLGISLYAEQPAKGEVWSEDVRKLAVVHESEGLLGYIYCDFFQRADKPHQDCHFTIRGGRLKEDGDYQLPVVVLMLNLPRSSRSSPTLLTPSMMENLFHEMGHAMHSMLGRTRYQHVTGTRCPTDFAEVPSILMEYFANDYRVVNQFARHYQTGQPLPKNMVSRLCESKKVCAAADMQLQVFYATLDQIYHGKHPLRNSTTDILKETQEKFYGLPYVPNTAWQLRFSHLVGYGARYYSYLMSRAVASMVWKECFLQDPFNRAAGERYRREMLAHGGGREPMLMVEGMLQKCPSVDDFVSALVSDLDLDFETFLMDSE | ||||||
Modified residue | 126 | N6-acetyllysine | ||||
Sequence: K |
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Subunit
Monomer.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q99797 | INA Q16352 | 2 | EBI-3893060, EBI-366258 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length713
- Mass (Da)80,641
- Last updated2008-02-26 v2
- Checksum9DBB26B74355B9C1
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 63-64 | in Ref. 1; AAC51231 | ||||
Sequence: RG → AR | ||||||
Sequence conflict | 200 | in Ref. 1; AAC51231 | ||||
Sequence: E → Q | ||||||
Sequence conflict | 348 | in Ref. 1; AAC51231 | ||||
Sequence: P → A | ||||||
Sequence conflict | 467 | in Ref. 1; AAC51231 | ||||
Sequence: V → L |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U80034 EMBL· GenBank· DDBJ | AAC51231.1 EMBL· GenBank· DDBJ | mRNA | ||
AK291923 EMBL· GenBank· DDBJ | BAF84612.1 EMBL· GenBank· DDBJ | mRNA | ||
AL157368 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL139080 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL445985 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC009934 EMBL· GenBank· DDBJ | AAH09934.1 EMBL· GenBank· DDBJ | mRNA |