id: A0A9L0TK01
gene_symbol: DNMT3A
taxon:
  id: NCBITaxon:9796
  label: Equus caballus
status: COMPLETE
description: Nuclear localization and gene-expression regulation are supported; the PWWP-region deletion
  limits more specific targeting claims.
source_documents:
- projects/PROTNLM_EVALUATION/mammal-benchmark/horse40-predictions.csv
- projects/PROTNLM_EVALUATION/mammal-benchmark/predictions.jsonl.gz
- projects/PROTNLM_EVALUATION/mammal-benchmark/paired-sequences/DNMT3A.json
references:
- id: PMID:29414941
  title: Structural basis for DNMT3A-mediated de novo DNA methylation.
  full_text_unavailable: false
  findings: []
- id: PMID:23042785
  title: Control of epigenetic states by WT1 via regulation of de novo DNA methyltransferase 3A.
  full_text_unavailable: true
  findings: []
- id: PMID:30478443
  title: Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated
    regions.
  full_text_unavailable: false
  findings: []
- id: file:HORSE/DNMT3A/DNMT3A-bioinformatics/RESULTS.md
  title: HORSE/DNMT3A/DNMT3A-bioinformatics/RESULTS.md
  findings: []
- id: PMID:12138111
  title: A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its
    expression correlates with active de novo methylation.
  full_text_unavailable: true
  findings: []
- id: PMID:38705424
  title: Different expression patterns of DNA methyltransferases during horse testis development.
  full_text_unavailable: true
  findings: []
predictions:
- source_method: ProtNLM2
  source_version: UniProt API snapshot 2026-09-08
  predicted_term:
    id: GO:0010468
    label: regulation of gene expression
  predicted_term_type: GO_BP
  review:
    assessment: CNN
    confidence_score: 2
    summary: Gene-expression regulation follows from the conserved DNA methyltransferase mechanism and
      is already present in frozen horse GOA. The PWWP-region deletion can alter which loci are methylated
      without abolishing the broad function. This known-target classification denotes overlap with the
      frozen annotation snapshot, not verified presence in ProtNLM training data.
    supported_by:
    - reference_id: PMID:29414941
      supporting_text: 'the

        DNMT3A-DNMT3L-DNA complex in which two DNMT3A monomers simultaneously attack two

        cytosine-phosphate-guanine (CpG) dinucleotides'
    - reference_id: PMID:23042785
      supporting_text: "DNMT3A \nrecruitment is increased, with hypermethylation being associated with\
        \ silencing \nof gene expression."
    - reference_id: PMID:30478443
      supporting_text: 'Substitutions in the PWWP domain abrogate binding to the histone

        modifications H3K36me2 and H3K36me3, and alter DNA methylation in patient cells.'
    - &id001
      reference_id: file:HORSE/DNMT3A/DNMT3A-bioinformatics/RESULTS.md
      supporting_text: share 97.3% identity among 873 paired residues.
    - &id002
      reference_id: file:HORSE/DNMT3A/DNMT3A-bioinformatics/RESULTS.md
      supporting_text: The ADD domain (human 482–614) and C-terminal methyltransferase domain (634–912)
        are retained.
- source_method: ProtNLM2
  source_version: UniProt API snapshot 2026-09-08
  predicted_term:
    id: GO:0005634
    label: nucleus
  predicted_term_type: GO_CC
  review:
    assessment: LSP
    confidence_score: 2
    summary: Human imaging directly establishes a nuclear DNMT3A pool, and the horse model retains the
      chromatin-associated ADD/catalytic apparatus. The frozen horse GOA contains the more specific nucleoplasm
      term, supported by this same biological rationale. Horse testis protein-expression evidence is relevant
      but does not identify this accession or resolve precise compartments in the cached abstract.
    supported_by:
    - reference_id: PMID:23042785
      supporting_text: "co-expression of WT1 and DNMT3A proteins in nuclei of blastemal \ncells in human\
        \ fetal kidney and Wilms' tumours."
    - reference_id: PMID:12138111
      supporting_text: 'Unlike Dnmt3a, which was

        concentrated on heterochromatin, Dnmt3a2 displayed a localization pattern

        suggestive of euchromatin association.'
    - *id001
    - *id002
    - reference_id: PMID:38705424
      supporting_text: 'Immunofluorescence of DNMT1, DNMT3a and DNMT3b on

        testis samples confirmed the differential expression and localization of these

        three DNA methylation transferases during horse development.'
