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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DPF1
double PHD fingers 1
Chromosome 19 · 19q13.2
NCBI Gene: 8193Ensembl: ENSG00000011332HGNC: HGNC:20225UniProt: A0A804CCM0
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingregulation of DNA-templated transcriptiontranscription coregulator activitynBAF complexneurodegenerative diseasesebaceous gland diseasehearing lossEpidermal Inclusion Cyst
✦AI Summary

DPF1 (double PHD fingers 1) is a neuron-specific chr19 remodeling component that plays a critical role in neural development and differentiation. As a subunit of the nBAF (neuron-specific BAF) complex, DPF1 participates in the developmental switch from proliferating neural progenitors to postmitotic neurons [UniProt]. During this transition, DPF1 replaces the progenitor-specific subunit ACTL6A/BAF53A in chr19 remodeling complexes, enabling neurons to establish their adult transcriptional programs and regulate genes essential for dendrite growth [UniProt]. DPF1 functions as a sequence-specific DNA-binding transcription coregulator within the nBAF complex, contributing to cell differentiation and regulating cell cycle transitions [GO Annotations]. Beyond neural development, DPF1 has emerging clinical significance in cancer biology. In glioblastoma, DPF1 and DPF3a link the SWI/SNF chr19 remodeling complex to a corepressor complex containing TLX and LSD1/RCOR2, maintaining the stemness properties of glioma initiating cells 1. Knockdown of DPF1 reduces sphere-forming and tumor-forming abilities in xenograft models 1. Additionally, DPF1 expression correlates with improved prognosis in metastatic cutaneous melanoma, with low expression associated with better outcomes 2. In hepatocellular carcinoma, DPF1 appears in prognostic gene signatures predicting overall survival 3. A genome-wide interaction study identified DPF1 variants as protective factors against depression through effects on neuroplasticity 4, and germline variants in DPF1 show inverse associations with multiple cancer types including prostate and ovarian carcinomas 5. These findings suggest DPF1 may be a therapeutic target in glioblastoma and other malignancies.

Sources cited
1
Low DPF1 expression is a prognostic biomarker associated with better outcomes in metastatic cutaneous melanoma across three independent cohorts
PMID: 33003118
2
DPF domain structure and histone modification recognition capabilities are important for SWI/SNF-dependent chromatin remodeling during transcription activation
PMID: 34681795
3
DPF1 and DPF3a maintain stemness in glioma initiating cells by linking SWI/SNF complex to a TLX/LSD1/RCOR2 corepressor complex; DPF1 knockdown reduces sphere-forming and tumor-forming ability
PMID: 28420882
4
DPF1 variants show genome-wide significant interaction with 5-HTTLPR on lifetime depression; DPF1 is brain-exclusively expressed as a major regulator of neuronal development and neuroplasticity
PMID: 35977647
5
DPF1 is part of a prognostic gene signature for hepatocellular carcinoma overall survival prediction using machine learning approaches
PMID: 40875626
6
DPF1 (d4-family protein) functions as an adaptor between NF-κB and SWI/SNF complex; inhibition of this interaction suppresses tumor formation in mouse xenograft models
PMID: 28924147
7
DPF1 rs12611084 variant is inversely associated with ER-negative breast, endometrioid ovarian, and prostate cancer risk
PMID: 28115406
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
sebaceous gland diseaseOpen Targets
0.18Weak
hearing lossOpen Targets
0.18Weak
Epidermal Inclusion CystOpen Targets
0.18Weak
aortic diseaseOpen Targets
0.12Weak
dementiaOpen Targets
0.12Weak
AtaxiaOpen Targets
0.12Weak
DysarthriaOpen Targets
0.12Weak
essential tremorOpen Targets
0.12Weak
Long eyelashesOpen Targets
0.12Weak
memory impairmentOpen Targets
0.12Weak
TremorOpen Targets
0.12Weak
Triangular faceOpen Targets
0.12Weak
Wide mouthOpen Targets
0.12Weak
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
prostate carcinomaOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
prostate cancerOpen Targets
0.04Suggestive
diverticular diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BCL7AProtein interaction100%SMARCA2Protein interaction100%SMARCA4Protein interaction100%SMARCB1Protein interaction100%SMARCC1Protein interaction100%SMARCD1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
7%
Ovary
3%
Lung
2%
Heart
2%
Liver
1%
Gene Interaction Network
Click a node to explore
DPF1BCL7ASMARCA2SMARCA4SMARCB1SMARCC1SMARCD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6PJ73
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.27 [0.18–0.41]
RankingsWhere DPF1 stands among ~20K protein-coding genes
  • #10,309of 20,598
    Most Researched39
  • #2,173of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedDPF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of prognostic mRNAs in metastatic cutaneous melanoma.
PMID: 33003118
Melanoma Res · 2020
1.00
2
Conserved Structure and Evolution of DPF Domain of PHF10-The Specific Subunit of PBAF Chromatin Remodeling Complex.
PMID: 34681795
Int J Mol Sci · 2021
0.90
3
The role of the SWI/SNF chromatin remodeling complex in maintaining the stemness of glioma initiating cells.
PMID: 28420882
Sci Rep · 2017
0.80
4
Genome-wide gene-gene interaction of the 5-HTTLPR promoter polymorphism emphasizes the important role of neuroplasticity in depression.
PMID: 35977647
Prog Neuropsychopharmacol Biol Psychiatry · 2022
0.70
5
Machine learning-based identification of diagnostic and prognostic mitotic cell cycle genes in hepatocellular carcinoma.
PMID: 40875626
PLoS One · 2025
0.60