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Details on Person UniProt:Q10713 PMPCA

Class:IdReferenceGeneProduct:59533
_chainChangeLogtransit peptide:1-33 added on Fri February 6 2015;chain:34-525 added on Fri February 6 2015
_displayNameUniProt:Q10713 PMPCA
_timestamp2024-11-03 20:01:53
chaintransit peptide:1-33
chain:34-525
checksum2751E7FCDC864E3F
commentFUNCTION Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.SUBUNIT 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.INTERACTION Ubiquitously expressed with highest expression in fetal tissues and adult brain, cerebellum and cerebellar vermis.MASS SPECTROMETRY The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the peptidase M16 family.CAUTION Does not seem to have protease activity as it lacks the zinc-binding site.
descriptionrecommendedName: Mitochondrial-processing peptidase subunit alpha alternativeName: Alpha-MPP alternativeName: fullName evidence="8"Inactive zinc metalloprotease alpha alternativeName: P-55
geneNamePMPCA
INPP5E
KIAA0123
MPPA
identifierQ10713
isSequenceChangedFALSE
keywordAcetylation
Alternative splicing
Disease variant
Intellectual disability
Membrane
Mitochondrion
Mitochondrion inner membrane
Neurodegeneration
Proteomics identification
Reference proteome
Transit peptide
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
namePMPCA
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8999004] ENSEMBL:ENSG00000165688 PMPCA [Homo sapiens]
secondaryIdentifierMPPA_HUMAN
B4DKL3
E7ET61
Q16639
Q5SXM9
Q8N513
sequenceLength525
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:8972942] UniProt:Q10713-1 PMPCA [Homo sapiens]
[ReferenceIsoform:8972943] UniProt:Q10713-2 PMPCA [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:1299450] PMPCA [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q10713 PMPCA (59533)