Seroatlas · Human Serome Atlas

POLR1D

DNA-directed RNA polymerases I and III subunit RPAC2

Also known as: AC19, MGC9850, RPA16, RPA9, RPAC2, RPAC2_HUMAN, RPO1-3

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

Protein identityUniProt · HPA

UniProt accession
P0DPB6
Gene
POLR1D
Ensembl
ENSG00000186184
Chromosome
13
Canonical length
133 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, RNA polymerase related proteins
Subcellular location
Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

Canonical amino-acid sequenceUniProt

133 residues, UniProt reviewed canonical sequence.

>P0DPB6|POLR1D
     1  MEEDQELERK ISGLKTSMAE GERKTALEMV QAAGTDRHCV TFVLHEEDHT LGNSLRYMIM
    61  KNPEVEFCGY TTTHPSESKI NLRIQTRGTL PAVEPFQRGL NELMNVCQHV LDKFEASIKD
   121  YKDQKASRNE STF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POLR1D 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)
0.41
Highest tissue expression
294 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 294 nTPM
  • skin: 160 nTPM
  • esophagus: 156 nTPM
  • stomach: 148 nTPM
  • bone marrow: 142 nTPM
  • adrenal gland: 140 nTPM

Single-cell type

  • esophageal apical cells: 1,419 nCPM
  • late spermatids: 1,306 nCPM
  • late primary spermatocytes: 572 nCPM
  • esophageal suprabasal cells: 502 nCPM
  • esophageal basal cells: 490 nCPM
  • early spermatids: 429 nCPM

Immune cell

  • T-reg: 180 nTPM
  • myeloid DC: 131 nTPM
  • intermediate monocyte: 125 nTPM
  • naive CD4 T-cell: 122 nTPM
  • classical monocyte: 116 nTPM
  • memory CD4 T-cell: 115 nTPM

Brain region

  • cerebellum: 91 nTPM
  • choroid plexus: 70 nTPM
  • hippocampal formation: 50 nTPM
  • basal ganglia: 49 nTPM
  • cerebral cortex: 49 nTPM
  • hypothalamus: 48 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POLR1D.

Disease | AllUniProt

Conditions POLR1D is implicated in, by any mechanism.

Disease | GeneticClinVar

19 pathogenic / likely-pathogenic of 125 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)
1.01
gnomAD pLI
0.36
gnomAD missense Z
0.17
DepMap mean gene effect
-0.46
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 POLR1D 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 POLR1D as an antibody target. Whether an autoantibody or antibody against POLR1D could matter depends on whether native POLR1D is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POLR1D 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 POLR1D as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/POLR1D. 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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