Seroatlas · Human Serome Atlas

MIPEP

Mitochondrial intermediate peptidase

Also known as: MIP, MIPEP_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q99797
Gene: MIPEP
Ensembl: ENSG00000027001
Chromosome: 13
Canonical length: 713 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

713 residues, UniProt reviewed canonical sequence.

>Q99797|MIPEP
     1  MLCVGRLGGL GARAAALPPR RAGRGSLEAG IRARRVSTSW SPVGAAFNVK PQGSRLDLFG
    61  ERRGLFGVPE LSAPEGFHIA QEKALRKTEL LVDRACSTPP GPQTVLIFDE LSDSLCRVAD
   121  LADFVKIAHP EPAFREAAEE ACRSIGTMVE KLNTNVDLYQ SLQKLLADKK LVDSLDPETR
   181  RVAELFMFDF EISGIHLDKE KRKRAVDLNV KILDLSSTFL MGTNFPNKIE KHLLPEHIRR
   241  NFTSAGDHII IDGLHAESPD DLVREAAYKI FLYPNAGQLK CLEELLSSRD LLAKLVGYST
   301  FSHRALQGTI AKNPETVMQF LEKLSDKLSE RTLKDFEMIR GMKMKLNPQN SEVMPWDPPY
   361  YSGVIRAERY NIEPSLYCPF FSLGACMEGL NILLNRLLGI SLYAEQPAKG EVWSEDVRKL
   421  AVVHESEGLL GYIYCDFFQR ADKPHQDCHF TIRGGRLKED GDYQLPVVVL MLNLPRSSRS
   481  SPTLLTPSMM ENLFHEMGHA MHSMLGRTRY QHVTGTRCPT DFAEVPSILM EYFANDYRVV
   541  NQFARHYQTG QPLPKNMVSR LCESKKVCAA ADMQLQVFYA TLDQIYHGKH PLRNSTTDIL
   601  KETQEKFYGL PYVPNTAWQL RFSHLVGYGA RYYSYLMSRA VASMVWKECF LQDPFNRAAG
   661  ERYRREMLAH GGGREPMLMV EGMLQKCPSV DDFVSALVSD LDLDFETFLM DSE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MIPEP 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

kidney: 24 nTPM
skin: 20 nTPM
choroid plexus: 19 nTPM
heart muscle: 17 nTPM
fallopian tube: 16 nTPM
tongue: 16 nTPM

Single-cell type

ependymal cells: 317 nCPM
respiratory ciliated cells: 306 nCPM
choroid plexus epithelial cells: 224 nCPM
fallopian tube ciliated cells: 138 nCPM
cone photoreceptor cells: 135 nCPM
endometrial ciliated cells: 132 nCPM

Immune cell

non-classical monocyte: 12 nTPM
NK-cell: 10 nTPM
MAIT T-cell: 9.4 nTPM
memory B-cell: 8.8 nTPM
gdT-cell: 7.4 nTPM
memory CD4 T-cell: 7.2 nTPM

Brain region

hippocampal formation: 31 nTPM
choroid plexus: 30 nTPM
cerebral cortex: 12 nTPM
midbrain: 12 nTPM
white matter: 11 nTPM
medulla oblongata: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MIPEP.

Disease | AllUniProt

Conditions MIPEP is implicated in, by any mechanism.

Combined oxidative phosphorylation deficiency 31 (COXPD31) MIM:617228

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 340 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Cardiomyopathy
Left ventricular noncompaction
Floppy infant
Inborn genetic diseases

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): 1.03
gnomAD pLI: 0
gnomAD missense Z: 0.22
DepMap mean gene effect: -0.31
DepMap dependency class: selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Peptidase M3A/M3B catalytic domain
Neurolysin/Thimet oligopeptidase, domain 2
Metallopeptidase, catalytic domain superfamily
Peptidase M3A/M3B
Peptidase family M3
Mitochondrial intermediate peptidase

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MIPEP as an antibody target. Whether an autoantibody or antibody against MIPEP could matter depends on whether native MIPEP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MIPEP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MIPEP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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