Seroatlas · Human Serome Atlas

PABPN1

Polyadenylate-binding protein 2

Also known as: OPMD, PAB2, PABP2, PABP2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q86U42
Gene
PABPN1
Ensembl
ENSG00000100836
Chromosome
14
Canonical length
306 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear speckles
Quaternary structure
Homooligomer

OverviewNCBI Gene

This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

306 residues, UniProt reviewed canonical sequence.

>Q86U42|PABPN1
     1  MAAAAAAAAA AGAAGGRGSG PGRRRHLVPG AGGEAGEGAP GGAGDYGNGL ESEELEPEEL
    61  LLEPEPEPEP EEEPPRPRAP PGAPGPGPGS GAPGSQEEEE EPGLVEGDPG DGAIEDPELE
   121  AIKARVREME EEAEKLKELQ NEVEKQMNMS PPPGNAGPVI MSIEEKMEAD ARSIYVGNVD
   181  YGATAEELEA HFHGCGSVNR VTILCDKFSG HPKGFAYIEF SDKESVRTSL ALDESLFRGR
   241  QIKVIPKRTN RPGISTTDRG FPRARYRART TNYNSSRSRF YSGFNSRPRG RVYRGRARAT
   301  SWYSPY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PABPN1 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)
0.6
Highest tissue expression
273 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 273 nTPM
  • testis: 231 nTPM
  • fallopian tube: 200 nTPM
  • pituitary gland: 199 nTPM
  • liver: 195 nTPM
  • colon: 193 nTPM

Single-cell type

  • astrocytes: 193 nCPM
  • bergmann glia: 189 nCPM
  • podocytes: 184 nCPM
  • ependymal cells: 162 nCPM
  • oligodendrocytes: 138 nCPM
  • oligodendrocyte progenitor cells: 132 nCPM

Immune cell

  • basophil: 16 nTPM
  • plasmacytoid DC: 14 nTPM
  • NK-cell: 11 nTPM
  • neutrophil: 10 nTPM
  • naive B-cell: 9.6 nTPM
  • eosinophil: 8.9 nTPM

Brain region

  • cerebral cortex: 142 nTPM
  • hypothalamus: 131 nTPM
  • white matter: 129 nTPM
  • cerebellum: 123 nTPM
  • thalamus: 121 nTPM
  • medulla oblongata: 121 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PABPN1.

Disease | AllUniProt

Conditions PABPN1 is implicated in, by any mechanism.

  • Oculopharyngeal muscular dystrophy 1 (OPMD1) MIM:164300

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 88 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)
0.57
gnomAD pLI
0.39
gnomAD missense Z
1.81
DepMap mean gene effect
-1.57
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 PABPN1 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 PABPN1 as an antibody target. Whether an autoantibody or antibody against PABPN1 could matter depends on whether native PABPN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PABPN1 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 PABPN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PABPN1. 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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