Seroatlas · Human Serome Atlas

PITRM1

Presequence protease, mitochondrial

Also known as: hMP1, KIAA1104, MP1, PreP, PREP_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q5JRX3
Gene: PITRM1
Ensembl: ENSG00000107959
Chromosome: 10
Canonical length: 1037 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Mitochondria
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]

Canonical amino-acid sequenceUniProt

1037 residues, UniProt reviewed canonical sequence.

>Q5JRX3|PITRM1
     1  MWRCGGRQGL CVLRRLSGGH AHHRAWRWNS NRACERALQY KLGDKIHGFT VNQVTSVPEL
    61  FLTAVKLTHD DTGARYLHLA REDTNNLFSV QFRTTPMDST GVPHILEHTV LCGSQKYPCR
   121  DPFFKMLNRS LSTFMNAFTA SDYTLYPFST QNPKDFQNLL SVYLDATFFP CLRELDFWQE
   181  GWRLEHENPS DPQTPLVFKG VVFNEMKGAF TDNERIFSQH LQNRLLPDHT YSVVSGGDPL
   241  CIPELTWEQL KQFHATHYHP SNARFFTYGN FPLEQHLKQI HEEALSKFQK IEPSTVVPAQ
   301  TPWDKPREFQ ITCGPDSFAT DPSKQTTISV SFLLPDITDT FEAFTLSLLS SLLTSGPNSP
   361  FYKALIESGL GTDFSPDVGY NGYTREAYFS VGLQGIAEKD IETVRSLIDR TIDEVVEKGF
   421  EDDRIEALLH KIEIQMKHQS TSFGLMLTSY IASCWNHDGD PVELLKLGNQ LAKFRQCLQE
   481  NPKFLQEKVK QYFKNNQHKL TLSMRPDDKY HEKQAQVEAT KLKQKVEALS PGDRQQIYEK
   541  GLELRSQQSK PQDASCLPAL KVSDIEPTIP VTELDVVLTA GDIPVQYCAQ PTNGMVYFRA
   601  FSSLNTLPEE LRPYVPLFCS VLTKLGCGLL DYREQAQQIE LKTGGMSASP HVLPDDSHMD
   661  TYEQGVLFSS LCLDRNLPDM MQLWSEIFNN PCFEEEEHFK VLVKMTAQEL ANGIPDSGHL
   721  YASIRAGRTL TPAGDLQETF SGMDQVRLMK RIAEMTDIKP ILRKLPRIKK HLLNGDNMRC
   781  SVNATPQQMP QTEKAVEDFL RSIGRSKKER RPVRPHTVEK PVPSSSGGDA HVPHGSQVIR
   841  KLVMEPTFKP WQMKTHFLMP FPVNYVGECI RTVPYTDPDH ASLKILARLM TAKFLHTEIR
   901  EKGGAYGGGA KLSHNGIFTL YSYRDPNTIE TLQSFGKAVD WAKSGKFTQQ DIDEAKLSVF
   961  STVDAPVAPS DKGMDHFLYG LSDEMKQAHR EQLFAVSHDK LLAVSDRYLG TGKSTHGLAI
  1021  LGPENPKIAK DPSWIIQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PITRM1 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): 0.21
Highest tissue expression: 68 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 68 nTPM
tongue: 56 nTPM
retina: 46 nTPM
adrenal gland: 43 nTPM
heart muscle: 41 nTPM
thymus: 40 nTPM

Single-cell type

early spermatids: 217 nCPM
late spermatids: 131 nCPM
late primary spermatocytes: 89 nCPM
oocytes: 78 nCPM
alveolar cells type 1: 78 nCPM
pituicytes/fscs: 66 nCPM

Immune cell

NK-cell: 14 nTPM
myeloid DC: 13 nTPM
T-reg: 13 nTPM
non-classical monocyte: 13 nTPM
naive CD8 T-cell: 11 nTPM
memory CD8 T-cell: 11 nTPM

Brain region

cerebral cortex: 49 nTPM
white matter: 44 nTPM
midbrain: 42 nTPM
pons: 42 nTPM
thalamus: 41 nTPM
medulla oblongata: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PITRM1.

Disease | AllUniProt

Conditions PITRM1 is implicated in, by any mechanism.

Spinocerebellar ataxia, autosomal recessive, 30 (SCAR30) MIM:619405

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 502 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spinocerebellar ataxia, autosomal recessive 30
Infantile onset spinocerebellar ataxia

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): 0.94
gnomAD pLI: 0
gnomAD missense Z: -0.84
DepMap mean gene effect: -0.27
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 M16, C-terminal
Metalloenzyme, LuxS/M16 peptidase-like
Peptidase M16, N-terminal
Insulinase (Peptidase family M16)
Peptidase M16 inactive domain
Peptidase M16C associated
Presequence protease, mitochondrial-type, C-terminal domain
Peptidase M16C associated
PreP C-terminal domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PITRM1 as an antibody target. Whether an autoantibody or antibody against PITRM1 could matter depends on whether native PITRM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PITRM1 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 PITRM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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