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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZBED1
zinc finger BED-type containing 1
Chromosome X|Y · X;Y
NCBI Gene: 9189Ensembl: ENSG00000214717.13HGNC: HGNC:447UniProt: O96006
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindinghost-mediated suppression of viral genome replicationpositive regulation of transcription by RNA polymerase IIprotein autosumoylationneurodegenerative diseaseneoplasmprostate cancerprostate neoplasm
✦AI Summary

ZBED1 is a zinc finger BED-domain transcription factor and SUMO E3 ligase encoded on the X chromosome X|Y regulates cell proliferation and multiple biological processes 1. As a chrX|Y-associated nuclear protein, ZBED1 binds DNA sequence-specifically and functions as both a transcriptional activator and repressor 2. ZBED1 is widely expressed across tissues derived from all three primary germ layers, though its expression patterns extend beyond simple proliferation markers 2. Mechanistically, ZBED1 coordinates complex regulatory networks: in glioblastoma stem cells, EGFR-mediated phosphorylation of ZBED1 at tyrosine residues enhances its interaction with UBC9, promoting SUMOylation-dependent stabilization and maintaining a self-reinforcing EGFR/ZBED1/PARK2 feedback loop 3. In placental trophoblasts, ZBED1 negatively regulates genes involved in cytotrophoblast differentiation, fusion, invasion, and immune tolerance 4. Clinically, ZBED1 dysregulation associates with disease pathogenesis: it is significantly upregulated in glioblastoma stem cells correlating with poor prognosis, and genetic ablation impairs stem cell proliferation and extends survival 3. ZBED1 appears upregulated in idiopathic pulmonary arterial hypertension, potentially contributing to pathologic cell growth 5. Additionally, ZBED1 methylation patterns differ in scleroderma-affected monozygotic twins, suggesting epigenetic involvement in autoimmune disease 6. X chromosome X|Y alterations modify ZBED1 expression across tissues, indicating its role in sex chrX|Y-mediated phenotypic effects 7.

Sources cited
1
ZBED1 regulates genes associated with cell proliferation, cell cycle regulation, chromatin remodeling, apoptosis, and differentiation
PMID: 32934705
2
EGFR phosphorylates ZBED1 at Y160/Y513, enhancing UBC9 interaction and SUMOylation; ZBED1 maintains EGFR through PARK2 repression, establishing a self-reinforcing circuit; ZBED1 upregulation in GSCs correlates with unfavorable prognosis
PMID: 40971867
3
ZBED1 is a chromatin-associated nuclear protein widely expressed in tissues from all three germ layers; expression extends beyond Ki-67-positive proliferating cells
PMID: 30304065
4
ZBED1 negatively regulates genes for trophoblast differentiation, fusion, invasion, and immune cell recruitment in placental biology
PMID: 35052473
5
ZBED1 is among top upregulated genes in idiopathic pulmonary arterial hypertension, contributing to cell growth and smooth muscle migration
PMID: 41352442
6
ZBED1 is among 14 X-chromosomal genes showing expression patterns consistent with X chromosome dosage compensation across tissues
PMID: 36978128
7
ZBED1 shows differential methylation patterns in X chromosome analysis of scleroderma-discordant monozygotic twins, suggesting epigenetic involvement
PMID: 22861365
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
neoplasmOpen Targets
0.10Weak
prostate cancerOpen Targets
0.06Suggestive
prostate neoplasmOpen Targets
0.06Suggestive
prostate intraepithelial neoplasiaOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.02Suggestive
cryopyrin-associated periodic syndromeOpen Targets
0.02Suggestive
viral diseaseOpen Targets
0.01Suggestive
prostatitisOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
adenocarcinomaOpen Targets
0.01Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
neuroendocrine carcinomaOpen Targets
0.01Suggestive
pachyonychia congenitaOpen Targets
0.01Suggestive
carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H1-0Protein interaction95%ASMTLProtein interaction88%DHRSXProtein interaction88%NFATC2IPShared pathway50%KIAA1586Shared pathway50%SUMO2Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Liver
99%
Lung
51%
Ovary
43%
Brain
35%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
ZBED1H1-0ASMTLDHRSXNFATC2IPKIAA1586SUMO2
PROTEIN STRUCTURE
Preparing viewer…
PDB2CT5 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.70Intermediate
Observed/Expected LoF0.38 [0.27–0.56]
RankingsWhere ZBED1 stands among ~20K protein-coding genes
  • #9,820of 20,598
    Most Researched43
  • #3,643of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedZBED1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ZBED1/DREF: A transcription factor that regulates cell proliferation.
PMID: 32934705
Oncol Lett · 2020
1.00
2
EGFR/ZBED1 reciprocal regulation promotes stemness and tumorigenesis in glioblastoma.
PMID: 40971867
Neuro Oncol · 2026
0.90
3
Meta-analysis of differential gene expression in idiopathic pulmonary arterial hypertension.
PMID: 41352442
Cardiovasc Pathol · 2026
0.80
4
Human DREF/ZBED1 is a nuclear protein widely expressed in multiple cell types derived from all three primary germ layers.
PMID: 30304065
PLoS One · 2018
0.70
5
ZBED1 Regulates Genes Important for Multiple Biological Processes of the Placenta.
PMID: 35052473
Genes (Basel) · 2022
0.60