Seroatlas · Human Serome Atlas

PRODH

Proline dehydrogenase 1, mitochondrial

Also known as: HSPOX2, PIG6, PROD_HUMAN, PRODH1, PRODH2, TP53I6

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

Protein identityUniProt · HPA

UniProt accession
O43272
Gene
PRODH
Ensembl
ENSG00000100033
Chromosome
22
Canonical length
600 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles,Mitochondria

OverviewNCBI Gene

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

Canonical amino-acid sequenceUniProt

600 residues, UniProt reviewed canonical sequence.

>O43272|PRODH
     1  MALRRALPAL RPCIPRFVPL STAPASREQP AAGPAAVPGG GSATAVRPPV PAVDFGNAQE
    61  AYRSRRTWEL ARSLLVLRLC AWPALLARHE QLLYVSRKLL GQRLFNKLMK MTFYGHFVAG
   121  EDQESIQPLL RHYRAFGVSA ILDYGVEEDL SPEEAEHKEM ESCTSAAERD GSGTNKRDKQ
   181  YQAHWAFGDR RNGVISARTY FYANEAKCDS HMETFLRCIE ASGRVSDDGF IAIKLTALGR
   241  PQFLLQFSEV LAKWRCFFHQ MAVEQGQAGL AAMDTKLEVA VLQESVAKLG IASRAEIEDW
   301  FTAETLGVSG TMDLLDWSSL IDSRTKLSKH LVVPNAQTGQ LEPLLSRFTE EEELQMTRML
   361  QRMDVLAKKA TEMGVRLMVD AEQTYFQPAI SRLTLEMQRK FNVEKPLIFN TYQCYLKDAY
   421  DNVTLDVELA RREGWCFGAK LVRGAYLAQE RARAAEIGYE DPINPTYEAT NAMYHRCLDY
   481  VLEELKHNAK AKVMVASHNE DTVRFALRRM EELGLHPADH RVYFGQLLGM CDQISFPLGQ
   541  AGYPVYKYVP YGPVMEVLPY LSRRALENSS LMKGTHRERQ LLWLELLRRL RTGNLFHRPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRODH 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)
0.27
Highest tissue expression
64 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 64 nTPM
  • amygdala: 60 nTPM
  • cerebral cortex: 57 nTPM
  • basal ganglia: 55 nTPM
  • skeletal muscle: 47 nTPM
  • midbrain: 41 nTPM

Single-cell type

  • astrocytes: 13 nCPM
  • choroid plexus epithelial cells: 12 nCPM
  • bergmann glia: 10 nCPM
  • respiratory basal cells: 7.1 nCPM
  • enterocytes: 5.9 nCPM
  • melanocytes: 4.5 nCPM

Immune cell

  • NK-cell: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • choroid plexus: 78 nTPM
  • medulla oblongata: 24 nTPM
  • thalamus: 24 nTPM
  • hippocampal formation: 21 nTPM
  • basal ganglia: 21 nTPM
  • amygdala: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRODH.

Disease | AllUniProt

Conditions PRODH is implicated in, by any mechanism.

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 473 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.1
gnomAD pLI
0
gnomAD missense Z
0.06
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

Canonical record: https://seroatlas.com/gene/PRODH. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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