Seroatlas · Human Serome Atlas

PAFAH1B3

Platelet-activating factor acetylhydrolase IB subunit alpha1

Also known as: PA1B3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q15102
Gene
PAFAH1B3
Ensembl
ENSG00000079462
Chromosome
19
Canonical length
231 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Intermediate filaments
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

231 residues, UniProt reviewed canonical sequence.

>Q15102|PAFAH1B3
     1  MSGEENPASK PTPVQDVQGD GRWMSLHHRF VADSKDKEPE VVFIGDSLVQ LMHQCEIWRE
    61  LFSPLHALNF GIGGDGTQHV LWRLENGELE HIRPKIVVVW VGTNNHGHTA EQVTGGIKAI
   121  VQLVNERQPQ ARVVVLGLLP RGQHPNPLRE KNRQVNELVR AALAGHPRAH FLDADPGFVH
   181  SDGTISHHDM YDYLHLSRLG YTPVCRALHS LLLRLLAQDQ GQGAPLLEPA P

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAFAH1B3 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
63 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 63 nTPM
  • hypothalamus: 45 nTPM
  • amygdala: 42 nTPM
  • basal ganglia: 40 nTPM
  • cerebral cortex: 36 nTPM
  • thymus: 35 nTPM

Single-cell type

  • differentiating spermatogonia: 258 nCPM
  • oocytes: 226 nCPM
  • esophageal basal cells: 165 nCPM
  • undifferentiated spermatogonia: 150 nCPM
  • hofbauer cells: 100 nCPM
  • gastric progenitor cells: 97 nCPM

Immune cell

  • T-reg: 58 nTPM
  • myeloid DC: 51 nTPM
  • naive B-cell: 49 nTPM
  • naive CD4 T-cell: 44 nTPM
  • memory B-cell: 38 nTPM
  • memory CD4 T-cell: 33 nTPM

Brain region

  • hypothalamus: 42 nTPM
  • cerebellum: 29 nTPM
  • basal ganglia: 26 nTPM
  • cerebral cortex: 26 nTPM
  • pons: 25 nTPM
  • midbrain: 22 nTPM

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)
0.98
gnomAD pLI
0
gnomAD missense Z
1.06
DepMap mean gene effect
0.04
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

InteractionsUniProt · HPA

Protein binding partners of PAFAH1B3 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 PAFAH1B3 as an antibody target. Whether an autoantibody or antibody against PAFAH1B3 could matter depends on whether native PAFAH1B3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PAFAH1B3 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 PAFAH1B3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PAFAH1B3. 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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