Seroatlas · Human Serome Atlas

POLH

DNA polymerase eta

Also known as: POLH_HUMAN, RAD30A, XP-V

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

Protein identityUniProt · HPA

UniProt accession
Q9Y253
Gene
POLH
Ensembl
ENSG00000170734
Chromosome
6
Canonical length
713 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

Canonical amino-acid sequenceUniProt

713 residues, UniProt reviewed canonical sequence.

>Q9Y253|POLH
     1  MATGQDRVVA LVDMDCFFVQ VEQRQNPHLR NKPCAVVQYK SWKGGGIIAV SYEARAFGVT
    61  RSMWADDAKK LCPDLLLAQV RESRGKANLT KYREASVEVM EIMSRFAVIE RASIDEAYVD
   121  LTSAVQERLQ KLQGQPISAD LLPSTYIEGL PQGPTTAEET VQKEGMRKQG LFQWLDSLQI
   181  DNLTSPDLQL TVGAVIVEEM RAAIERETGF QCSAGISHNK VLAKLACGLN KPNRQTLVSH
   241  GSVPQLFSQM PIRKIRSLGG KLGASVIEIL GIEYMGELTQ FTESQLQSHF GEKNGSWLYA
   301  MCRGIEHDPV KPRQLPKTIG CSKNFPGKTA LATREQVQWW LLQLAQELEE RLTKDRNDND
   361  RVATQLVVSI RVQGDKRLSS LRRCCALTRY DAHKMSHDAF TVIKNCNTSG IQTEWSPPLT
   421  MLFLCATKFS ASAPSSSTDI TSFLSSDPSS LPKVPVTSSE AKTQGSGPAV TATKKATTSL
   481  ESFFQKAAER QKVKEASLSS LTAPTQAPMS NSPSKPSLPF QTSQSTGTEP FFKQKSLLLK
   541  QKQLNNSSVS SPQQNPWSNC KALPNSLPTE YPGCVPVCEG VSKLEESSKA TPAEMDLAHN
   601  SQSMHASSAS KSVLEVTQKA TPNPSLLAAE DQVPCEKCGS LVPVWDMPEH MDYHFALELQ
   661  KSFLQPHSSN PQVVSAVSHQ GKRNPKSPLA CTNKRPRPEG MQTLESFFKP LTH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POLH 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)
0.42
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • tonsil: 13 nTPM
  • lymph node: 12 nTPM
  • thymus: 12 nTPM
  • testis: 9.9 nTPM
  • skeletal muscle: 8 nTPM
  • skin: 8 nTPM

Single-cell type

  • cone photoreceptor cells: 66 nCPM
  • choroid plexus epithelial cells: 56 nCPM
  • myonuclei: 56 nCPM
  • endometrial luminal cells: 47 nCPM
  • medullary thymic epithelial cells: 46 nCPM
  • epicardial cells: 46 nCPM

Immune cell

  • memory B-cell: 5 nTPM
  • naive B-cell: 4.9 nTPM
  • T-reg: 4.6 nTPM
  • gdT-cell: 4.2 nTPM
  • NK-cell: 4.2 nTPM
  • basophil: 4 nTPM

Brain region

  • choroid plexus: 16 nTPM
  • cerebellum: 14 nTPM
  • white matter: 12 nTPM
  • medulla oblongata: 10 nTPM
  • basal ganglia: 10 nTPM
  • pons: 9.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POLH.

Disease | AllUniProt

Conditions POLH is implicated in, by any mechanism.

  • Xeroderma pigmentosum variant type (XPV) MIM:278750

Disease | GeneticClinVar

58 pathogenic / likely-pathogenic of 652 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)
0.84
gnomAD pLI
0
gnomAD missense Z
0.82
DepMap mean gene effect
-0.2
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 POLH 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 POLH as an antibody target. Whether an autoantibody or antibody against POLH could matter depends on whether native POLH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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