Seroatlas · Human Serome Atlas

PAFAH1B1

Platelet-activating factor acetylhydrolase IB subunit beta

Also known as: LIS1, LIS1_HUMAN, MDCR, MDS, NudF, PAFAH

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

Protein identityUniProt · HPA

UniProt accession
P43034
Gene
PAFAH1B1
Ensembl
ENSG00000007168
Chromosome
17
Canonical length
410 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Centrosome,Mid piece
Quaternary structure
Homodimer

OverviewNCBI Gene

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

Canonical amino-acid sequenceUniProt

410 residues, UniProt reviewed canonical sequence.

>P43034|PAFAH1B1
     1  MVLSQRQRDE LNRAIADYLR SNGYEEAYSV FKKEAELDVN EELDKKYAGL LEKKWTSVIR
    61  LQKKVMELES KLNEAKEEFT SGGPLGQKRD PKEWIPRPPE KYALSGHRSP VTRVIFHPVF
   121  SVMVSASEDA TIKVWDYETG DFERTLKGHT DSVQDISFDH SGKLLASCSA DMTIKLWDFQ
   181  GFECIRTMHG HDHNVSSVAI MPNGDHIVSA SRDKTIKMWE VQTGYCVKTF TGHREWVRMV
   241  RPNQDGTLIA SCSNDQTVRV WVVATKECKA ELREHEHVVE CISWAPESSY SSISEATGSE
   301  TKKSGKPGPF LLSGSRDKTI KMWDVSTGMC LMTLVGHDNW VRGVLFHSGG KFILSCADDK
   361  TLRVWDYKNK RCMKTLNAHE HFVTSLDFHK TAPYVVTGSV DQTVKVWECR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAFAH1B1 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
98 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 98 nTPM
  • skeletal muscle: 74 nTPM
  • tongue: 68 nTPM
  • parathyroid gland: 53 nTPM
  • cerebellum: 52 nTPM
  • heart muscle: 48 nTPM

Single-cell type

  • late spermatids: 3,383 nCPM
  • neutrophils: 948 nCPM
  • late primary spermatocytes: 643 nCPM
  • early spermatids: 614 nCPM
  • myonuclei: 578 nCPM
  • neutrophil progenitors: 429 nCPM

Immune cell

  • MAIT T-cell: 5.3 nTPM
  • T-reg: 5.2 nTPM
  • naive CD4 T-cell: 5 nTPM
  • gdT-cell: 4.7 nTPM
  • memory CD4 T-cell: 4.2 nTPM
  • naive CD8 T-cell: 3.8 nTPM

Brain region

  • pons: 151 nTPM
  • hypothalamus: 148 nTPM
  • cerebral cortex: 142 nTPM
  • basal ganglia: 135 nTPM
  • medulla oblongata: 135 nTPM
  • hippocampal formation: 131 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAFAH1B1.

Disease | AllUniProt

Conditions PAFAH1B1 is implicated in, by any mechanism.

Disease | GeneticClinVar

186 pathogenic / likely-pathogenic of 588 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)
0.11
gnomAD pLI
1
gnomAD missense Z
3.53
DepMap mean gene effect
-2.22
DepMap dependency class
pan

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PAFAH1B1 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 PAFAH1B1 as an antibody target. Whether an autoantibody or antibody against PAFAH1B1 could matter depends on whether native PAFAH1B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PAFAH1B1 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 PAFAH1B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PAFAH1B1. 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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