MIPEP
entrez
4285
canonical
uniprot
Q99797
canonical
ensembl
ENSG00000027001
resolver
ensp
ENSP00000371607
resolver
ensp
ENSP00000749206
resolver
enst
ENST00000382172
resolver
genesymbol
MIPEP
resolver
genesymbol_syn
MIP
resolver
hgnc
HGNC:7104
resolver
uniprot
Q5JV15
resolver
uniprot
Q5T9Q9
resolver
uniprot
Q96G65
resolver
uniprot_entry
MIPEP_HUMAN
resolver
uniprot_sec
Q5JV15
resolver
uniprot_sec
Q5T9Q9
resolver
uniprot_sec
Q96G65
resolver
activity_regulation
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). {ECO:0000250}.
uniprot
proteins
amino_acid_sequence
MLCVGRLGGLGARAAALPPRRAGRGSLEAGIRARRVSTSWSPVGAAFNVKPQGSRLDLFGERRGLFGVPELSAPEGFHIAQEKALRKTELLVDRACSTPPGPQTVLIFDELSDSLCRVADLADFVKIAHPEPAFREAAEEACRSIGTMVEKLNTNVDLYQSLQKLLADKKLVDSLDPETRRVAELFMFDFEISGIHLDKEKRKRAVDLNVKILDLSSTFLMGTNFPNKIEKHLLPEHIRRNFTSAGDHIIIDGLHAESPDDLVREAAYKIFLYPNAGQLKCLEELLSSRDLLAKLVGYSTFSHRALQGTIAKNPETVMQFLEKLSDKLSERTLKDFEMIRGMKMKLNPQNSEVMPWDPPYYSGVIRAERYNIEPSLYCPFFSLGACMEGLNILLNRLLGISLYAEQPAKGEVWSEDVRKLAVVHESEGLLGYIYCDFFQRADKPHQDCHFTIRGGRLKEDGDYQLPVVVLMLNLPRSSRSSPTLLTPSMMENLFHEMGHAMHSMLGRTRYQHVTGTRCPTDFAEVPSILMEYFANDYRVVNQFARHYQTGQPLPKNMVSRLCESKKVCAAADMQLQVFYATLDQIYHGKHPLRNSTTDILKETQEKFYGLPYVPNTAWQLRFSHLVGYGARYYSYLMSRAVASMVWKECFLQDPFNRAAGERYRREMLAHGGGREPMLMVEGMLQKCPSVDDFVSALVSDLDLDFETFLMDSE
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]: An 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. {ECO:0000269|PubMed:27799064}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.24.59
uniprot
proteins
function
FUNCTION: Cleaves proteins, imported into the mitochondrion, to their mature size.
uniprot
proteins
mass_dalton
80641
uniprot
proteins
protein_family
Peptidase M3 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
27799064
uniprot
proteins
pubmed
9073519
uniprot
proteins
sequence_length
713
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix.
uniprot
proteins