Seroatlas · Human Serome Atlas

PPTC7

Protein phosphatase PTC7 homolog

Also known as: PPTC7_HUMAN, TA-PP2C

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

Protein identityUniProt · HPA

UniProt accession: Q8NI37
Gene: PPTC7
Ensembl: ENSG00000196850
Chromosome: 12
Canonical length: 304 aa
Protein class: Enzymes, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

Enables protein serine/threonine phosphatase activity and protein-macromolecule adaptor activity. Involved in negative regulation of mitophagy and positive regulation of ubiquinone biosynthetic process. Located in mitochondrial matrix. Is active in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

304 residues, UniProt reviewed canonical sequence.

>Q8NI37|PPTC7
     1  MFSVLSYGRL VARAVLGGLS QTDPRAGGGG GGDYGLVTAG CGFGKDFRKG LLKKGACYGD
    61  DACFVARHRS ADVLGVADGV GGWRDYGVDP SQFSGTLMRT CERLVKEGRF VPSNPIGILT
   121  TSYCELLQNK VPLLGSSTAC IVVLDRTSHR LHTANLGDSG FLVVRGGEVV HRSDEQQHYF
   181  NTPFQLSIAP PEAEGVVLSD SPDAADSTSF DVQLGDIILT ATDGLFDNMP DYMILQELKK
   241  LKNSNYESIQ QTARSIAEQA HELAYDPNYM SPFAQFACDN GLNVRGGKPD DITVLLSIVA
   301  EYTD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPTC7 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): 0.29
Highest tissue expression: 131 nTPM

Expression across tissuesHPA

Tissue

tongue: 131 nTPM
skeletal muscle: 83 nTPM
bone marrow: 49 nTPM
heart muscle: 37 nTPM
parathyroid gland: 29 nTPM
adrenal gland: 24 nTPM

Single-cell type

myonuclei: 319 nCPM
thymic myoid cells: 180 nCPM
salivary basal cells: 174 nCPM
salivary duct cells: 170 nCPM
ocular epithelial cells: 151 nCPM
conjunctival goblet cells: 147 nCPM

Immune cell

neutrophil: 2.1 nTPM
gdT-cell: 0.8 nTPM
MAIT T-cell: 0.8 nTPM
naive B-cell: 0.7 nTPM
naive CD4 T-cell: 0.7 nTPM
classical monocyte: 0.6 nTPM

Brain region

hypothalamus: 32 nTPM
thalamus: 29 nTPM
medulla oblongata: 29 nTPM
midbrain: 29 nTPM
cerebellum: 27 nTPM
pons: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PPTC7.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 31 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypomyelinating leukodystrophy

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): 0.36
gnomAD pLI: 0.94
gnomAD missense Z: 2.89
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

negative regulation of mitophagy
regulation of ubiquinone biosynthetic process
positive regulation of ubiquinone biosynthetic process

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

PPM-type phosphatase-like domain
PPM-type phosphatase-like domain superfamily
Protein phosphatase PTC7 homolog
Stage II sporulation protein E (SpoIIE)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PPTC7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PPTC7 as an antibody target. Whether an autoantibody or antibody against PPTC7 could matter depends on whether native PPTC7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PPTC7 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 PPTC7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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