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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CIZ1
CDKN1A interacting zinc finger protein 1
Chromosome 9 · 9q34.11
NCBI Gene: 25792Ensembl: ENSG00000148337.22HGNC: HGNC:16744UniProt: B4E0A3
67PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusnucleoplasmzinc ion bindingdevelopmental and epileptic encephalopathy, 31ALennox-Gastaut syndromegenetic disorderdevelopmental and epileptic encephalopathy, 31B
✦AI Summary

CIZ1 (CDKN1A interacting zinc finger protein 1) is a nuclear protein that plays critical roles in cell cycle regulation and DNA replication control 1. The protein functions as a regulator of the G1/S transition by interacting with pre-replication complex components including CDC6 and facilitating the localization of cyclin A-CDK2 activity to chr9 during DNA replication initiation 1. CIZ1 serves as a kinase sensor that helps prevent re-replication while promoting proper replication timing 1. Mechanistically, CIZ1 binds multiple cell cycle regulatory proteins including p21Cip1/Waf1, CDK2, cyclin A, cyclin E, and PCNA 2. The protein also forms RNA-dependent nuclear assemblies, particularly around the inactive X-chromosome 9 female cells 3. Disease relevance includes its association with cervical dystonia through mutations (DYT23) 45, though this genetic link awaits independent confirmation 5. CIZ1 is overexpressed in various cancers where it acts as a tumor growth driver, potentially through deregulation of CDK activity thresholds and induction of DNA replication stress 16. In breast cancers, elevated CIZ1 correlates with chr9 deprotection and epigenetic instability, suggesting a role in cancer epigenetic reprogramming 3.

Sources cited
1
CIZ1 regulates G1/S transition, interacts with pre-replication complex components, and acts as kinase sensor
PMID: 28036012
2
CIZ1 binds to multiple cell cycle proteins including p21, CDK2, cyclin A, cyclin E, and PCNA
PMID: 26861296
3
CIZ1 forms RNA-dependent nuclear assemblies around inactive X-chromosome and is involved in epigenetic regulation
PMID: 40067149
4
CIZ1 mutations are associated with dystonia (DYT23)
PMID: 24092288
5
CIZ1/DYT23 association with dystonia awaits independent confirmation
PMID: 24262166
6
CIZ1 is overexpressed in colorectal cancer and regulates cell proliferation and cycle
PMID: 24126760
Disease Associationsⓘ20
developmental and epileptic encephalopathy, 31AOpen Targets
0.51Moderate
Lennox-Gastaut syndromeOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.45Moderate
developmental and epileptic encephalopathy, 31BOpen Targets
0.33Weak
dystonia 23Open Targets
0.29Weak
cerebellar ataxiaOpen Targets
0.27Weak
Epileptic encephalopathyOpen Targets
0.27Weak
Global developmental delayOpen Targets
0.27Weak
HypotoniaOpen Targets
0.27Weak
SeizureOpen Targets
0.27Weak
stereotypic movement disorderOpen Targets
0.27Weak
DystoniaOpen Targets
0.20Weak
dystonic disorderOpen Targets
0.19Weak
insomniaOpen Targets
0.12Weak
laryngeal squamous cell carcinomaOpen Targets
0.07Suggestive
TinnitusOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
epilepsy, progressive myoclonic, 12Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDKN1AProtein interaction99%MCM3Protein interaction75%ERHProtein interaction74%THAP1Protein interaction64%GNALProtein interaction63%ANO3Protein interaction61%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
70%
Lung
60%
Brain
55%
Heart
49%
Liver
32%
Gene Interaction Network
Click a node to explore
CIZ1CDKN1AMCM3ERHTHAP1GNALANO3
PROTEIN STRUCTURE
Preparing viewer…
PDB7X39 · 2.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.45–0.69]
RankingsWhere CIZ1 stands among ~20K protein-coding genes
  • #6,969of 20,598
    Most Researched67
  • #5,205of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedCIZ1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dystonia.
PMID: 24092288
Continuum (Minneap Minn) · 2013
1.00
2
Genetics in dystonia.
PMID: 24262166
Parkinsonism Relat Disord · 2014
0.90
3
Emerging Roles for Ciz1 in Cell Cycle Regulation and as a Driver of Tumorigenesis.
PMID: 28036012
Biomolecules · 2016
0.80
4
The Role of Cdkn1A-Interacting Zinc Finger Protein 1 (CIZ1) in DNA Replication and Pathophysiology.
PMID: 26861296
Int J Mol Sci · 2016
0.70
5
CIZ1 regulates the proliferation, cycle distribution and colony formation of RKO human colorectal cancer cells.
PMID: 24126760
Mol Med Rep · 2013
0.60