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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZSCAN1
zinc finger and SCAN domain containing 1
Chromosome 19 · 19q13.43
NCBI Gene: 284312Ensembl: ENSG00000152467.10HGNC: HGNC:23712UniProt: Q8NBB4
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingregulation of transcription by RNA polymerase IInucleuselevated lactate dehydrogenaseUrinary incontinencebreast cancerrapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
✦AI Summary

ZSCAN1 (zinc finger and SCAN domain containing 1) is a transcriptional regulator that functions as a sequence-specific DNA-binding protein involved in RNA polymerase II-mediated transcription 1. The protein contains zinc finger and SCAN domains, enabling its chr19-associated regulatory activity in the nucleus. Mechanistically, ZSCAN1 acts as a transcriptional repressor of stemness-related genes in cancer. In breast cancer, ZSCAN1 directly binds to the WWTR1 (TAZ) promoter region and suppresses its transcription, thereby inhibiting cancer stem cell properties 1. ZSCAN1 is aberrantly suppressed in breast cancer, with loss of expression correlating with poor prognosis and enhanced tumor-initiating capacity 1. Clinically, ZSCAN1 has emerged as a critical autoantigen in ROHHAD (Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) syndrome, a severe pediatric disorder affecting hypothalamic function. Anti-ZSCAN1 autoantibodies are detected in both paraneoplastic and non-paraneoplastic ROHHAD cases, with ZSCAN1 expressed in hypothalamic regions including the subfornical organ 23. High-titer anti-ZSCAN1 antibodies correlate with disease severity and may aid early diagnosis 4. Additionally, ZSCAN1 DNA methylation serves as a biomarker for cervical cancer screening in HPV-positive populations 56.

Sources cited
1
ZSCAN1 functions as a transcriptional repressor that directly binds the WWTR1/TAZ promoter and is suppressed in breast cancer with prognostic significance
PMID: 36923432
2
Anti-ZSCAN1 autoantibodies are detected in pediatric paraneoplastic ROHHAD syndrome patients and ZSCAN1 is expressed in brain tissue
PMID: 35466441
3
Anti-ZSCAN1 autoantibodies are present in >85% of ROHHAD syndrome patients regardless of tumor association and ZSCAN1 is co-expressed in hypothalamic subfornical organs
PMID: 38339072
4
High-titer anti-ZSCAN1 antibodies correlate with disease severity in early-onset ROHHAD syndrome and may predict clinical course
PMID: 38474067
5
ZSCAN1 autoantibodies are detected primarily in cerebrospinal fluid of non-paraneoplastic ROHHAD patients and occur in adult cases
PMID: 38917381
6
ZSCAN1 DNA methylation serves as a biomarker for cervical lesion detection in HPV-positive screening cohorts
PMID: 30259973
7
ZSCAN1 methylation panels show enhanced methylation with cervical lesion severity and diagnostic utility in Chinese populations
PMID: 33300604
Disease Associationsⓘ20
elevated lactate dehydrogenaseOpen Targets
0.11Weak
Urinary incontinenceOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.07Suggestive
rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndromeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndromeOpen Targets
0.05Suggestive
Down syndromeOpen Targets
0.04Suggestive
hyperuricemiaOpen Targets
0.04Suggestive
kidney cancerOpen Targets
0.04Suggestive
HypernatremiaOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
neuroendocrine neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Abnormal autonomic nervous system physiologyOpen Targets
0.01Suggestive
Central hypoventilationOpen Targets
0.00Suggestive
Autoimmune HepatitisOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
dysautonomiaOpen Targets
0.00Suggestive
ganglioneuromaOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF174Protein interaction79%ZNF213Protein interaction79%ZSCAN18Protein interaction79%PGBD1Protein interaction79%ZNF24Protein interaction74%MZF1Protein interaction74%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
81%
Ovary
64%
Heart
51%
Lung
13%
Liver
8%
Gene Interaction Network
Click a node to explore
ZSCAN1ZNF174ZNF213ZSCAN18PGBD1ZNF24MZF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NBB4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.35LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.68–1.35]
RankingsWhere ZSCAN1 stands among ~20K protein-coding genes
  • #14,620of 20,598
    Most Researched19
  • #14,152of 17,882
    Most Constrained (LOEUF)1.35
Genes detectedZSCAN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ZSCAN1 Autoantibodies Are Associated with Pediatric Paraneoplastic ROHHAD.
PMID: 35466441
Ann Neurol · 2022
1.00
2
Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.
PMID: 38917381
Neurol Neuroimmunol Neuroinflamm · 2024
0.90
3
Autoimmunity related to anti-Na
PMID: 38972727
Endocr J · 2024
0.80
4
DNA methylation markers as triage test for the early identification of cervical lesions in a Chinese population.
PMID: 33300604
Int J Cancer · 2021
0.70
5
Zinc finger and SCAN domain containing 1, ZSCAN1, is a novel stemness-related tumor suppressor and transcriptional repressor in breast cancer targeting TAZ.
PMID: 36923432
Front Oncol · 2023
0.60