PMPCA

Protein identityUniProt · HPA

UniProt accession

Q10713

Gene

PMPCA

Ensembl

ENSG00000165688

Chromosome

9

Canonical length

525 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

525 residues, UniProt reviewed canonical sequence.

>Q10713|PMPCA
     1  MAAVVLAATR LLRGSGSWGC SRLRFGPPAY RRFSSGGAYP NIPLSSPLPG VPKPVFATVD
    61  GQEKFETKVT TLDNGLRVAS QNKFGQFCTV GILINSGSRY EAKYLSGIAH FLEKLAFSST
   121  ARFDSKDEIL LTLEKHGGIC DCQTSRDTTM YAVSADSKGL DTVVALLADV VLQPRLTDEE
   181  VEMTRMAVQF ELEDLNLRPD PEPLLTEMIH EAAYRENTVG LHRFCPTENV AKINREVLHS
   241  YLRNYYTPDR MVLAGVGVEH EHLVDCARKY LLGVQPAWGS AEAVDIDRSV AQYTGGIAKL
   301  ERDMSNVSLG PTPIPELTHI MVGLESCSFL EEDFIPFAVL NMMMGGGGSF SAGGPGKGMF
   361  SRLYLNVLNR HHWMYNATSY HHSYEDTGLL CIHASADPRQ VREMVEIITK EFILMGGTVD
   421  TVELERAKTQ LTSMLMMNLE SRPVIFEDVG RQVLATRSRK LPHELCTLIR NVKPEDVKRV
   481  ASKMLRGKPA VAALGDLTDL PTYEHIQTAL SSKDGRLPRT YRLFR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PMPCA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

97 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PMPCA.

Disease | AllUniProt

Conditions PMPCA is implicated in, by any mechanism.

• Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) MIM:213200

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 290 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive spinocerebellar ataxia 2
• 13 conditions

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.07

gnomAD pLI

0

gnomAD missense Z

0.16

DepMap mean gene effect

-1.3

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• protein processing
• protein processing involved in protein targeting to mitochondrion

Molecular functions

• metal ion binding
• metalloendopeptidase activity

Cellular components

• extracellular space
• mitochondrial inner membrane
• mitochondrial matrix
• mitochondrial processing peptidase complex
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Peptidase M16, zinc-binding site
• Peptidase M16, C-terminal
• Metalloenzyme, LuxS/M16 peptidase-like
• Peptidase M16, N-terminal
• Mitochondrial Processing Peptidase/Ubiquinol-cytochrome c Reductase Complex
• Insulinase (Peptidase family M16)
• Peptidase M16 inactive domain

KeywordsUniProt

• Acetylation
• Intellectual disability
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Neurodegeneration
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of PMPCA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• H1-1
• NUDT8
• PMPCB