Seroatlas · Human Serome Atlas

PREPL

Prolyl endopeptidase-like

Also known as: KIAA0436, PPCEL_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q4J6C6
Gene
PREPL
Ensembl
ENSG00000138078
Chromosome
2
Canonical length
727 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

727 residues, UniProt reviewed canonical sequence.

>Q4J6C6|PREPL
     1  MQQKTKLFLQ ALKYSIPHLG KCMQKQHLNH YNFADHCYNR IKLKKYHLTK CLQNKPKISE
    61  LARNIPSRSF SCKDLQPVKQ ENEKPLPENM DAFEKVRTKL ETQPQEEYEI INVEVKHGGF
   121  VYYQEGCCLV RSKDEEADND NYEVLFNLEE LKLDQPFIDC IRVAPDEKYV AAKIRTEDSE
   181  ASTCVIIKLS DQPVMEASFP NVSSFEWVKD EEDEDVLFYT FQRNLRCHDV YRATFGDNKR
   241  NERFYTEKDP SYFVFLYLTK DSRFLTINIM NKTTSEVWLI DGLSPWDPPV LIQKRIHGVL
   301  YYVEHRDDEL YILTNVGEPT EFKLMRTAAD TPAIMNWDLF FTMKRNTKVI DLDMFKDHCV
   361  LFLKHSNLLY VNVIGLADDS VRSLKLPPWA CGFIMDTNSD PKNCPFQLCS PIRPPKYYTY
   421  KFAEGKLFEE TGHEDPITKT SRVLRLEAKS KDGKLVPMTV FHKTDSEDLQ KKPLLVHVYG
   481  AYGMDLKMNF RPERRVLVDD GWILAYCHVR GGGELGLQWH ADGRLTKKLN GLADLEACIK
   541  TLHGQGFSQP SLTTLTAFSA GGVLAGALCN SNPELVRAVT LEAPFLDVLN TMMDTTLPLT
   601  LEELEEWGNP SSDEKHKNYI KRYCPYQNIK PQHYPSIHIT AYENDERVPL KGIVSYTEKL
   661  KEAIAEHAKD TGEGYQTPNI ILDIQPGGNH VIEDSHKKIT AQIKFLYEEL GLDSTSVFED
   721  LKKYLKF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PREPL 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)
0.26
Highest tissue expression
143 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 143 nTPM
  • retina: 115 nTPM
  • cerebellum: 114 nTPM
  • basal ganglia: 99 nTPM
  • hypothalamus: 98 nTPM
  • hippocampal formation: 70 nTPM

Single-cell type

  • brain inhibitory neurons: 295 nCPM
  • other brain neurons: 257 nCPM
  • brain excitatory neurons: 257 nCPM
  • lactotrophs: 251 nCPM
  • myonuclei: 246 nCPM
  • somatotrophs: 245 nCPM

Immune cell

  • MAIT T-cell: 11 nTPM
  • NK-cell: 11 nTPM
  • naive CD4 T-cell: 11 nTPM
  • T-reg: 8.8 nTPM
  • naive CD8 T-cell: 8.7 nTPM
  • memory B-cell: 8.5 nTPM

Brain region

  • cerebral cortex: 387 nTPM
  • hypothalamus: 313 nTPM
  • basal ganglia: 252 nTPM
  • white matter: 231 nTPM
  • hippocampal formation: 210 nTPM
  • pons: 209 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PREPL.

Disease | AllUniProt

Conditions PREPL is implicated in, by any mechanism.

  • Hypotonia-cystinuria syndrome (HCS) MIM:606407
  • Myasthenic syndrome, congenital, 22 (CMS22) MIM:616224

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 811 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)
0.99
gnomAD pLI
0
gnomAD missense Z
-2.5
DepMap mean gene effect
-0.16
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 PREPL as an antibody target. Whether an autoantibody or antibody against PREPL could matter depends on whether native PREPL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

Canonical record: https://seroatlas.com/gene/PREPL. 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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