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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CFDP1
chromatin stabilizing protein CFDP1
Chromosome 16 · 16q23.1
NCBI Gene: 10428Ensembl: ENSG00000153774.10HGNC: HGNC:1873UniProt: A0A0H5APX3
60PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromatin remodelingSwr1 complexnucleuschromosomeneurodegenerative diseaseGraves diseasehypertensionDupuytren Contracture
✦AI Summary

CFDP1 (Cranio Facial Development Protein 1) is a chr16-associated protein essential for multiple cellular processes including chr16 organization, cell cycle progression, and developmental regulation. The protein binds to chr16 and interacts with subunits of the SRCAP chr16 remodeling complex, playing a crucial role in maintaining higher-order chr16 organization 1. CFDP1 functions as a bipartite microtubule-associated protein (MAP) that promotes spindle assembly during mitosis by decreasing importin α association with TPX2, thereby activating Aurora A kinase and facilitating microtubule nucleation 2. Loss of CFDP1 results in chromosome 16 defects, K-fiber instability, and embryonic lethality at e8.5 in mice 2. The protein is critical for craniofacial development and osteogenesis, with depletion causing significant defects in craniofacial structures and bone mineralization in zebrafish models 3. CFDP1 also plays important roles in cardiac development, with knockout zebrafish developing arrhythmic hearts and defective cardiac performance through downregulation of Wnt signaling 4. Additionally, CFDP1 has oncogenic properties, promoting hepatocellular carcinoma progression through activation of the NEDD4/PTEN/PI3K/AKT signaling pathway 5 and contributing to neuroblastoma development by affecting noradrenergic neuron differentiation 6.

Sources cited
1
CFDP1 binds to chromatin and interacts with SRCAP complex subunits for maintaining higher-order chromatin organization
PMID: 28367969
2
CFDP1 functions as a bipartite MAP promoting spindle assembly through TPX2/Aurora A activation and causes embryonic lethality when lost
PMID: 41683788
3
CFDP1 is essential for craniofacial development and osteogenesis in zebrafish
PMID: 29107067
4
CFDP1 is critical for cardiac development through Wnt signaling regulation
PMID: 37566073
5
CFDP1 promotes hepatocellular carcinoma through NEDD4/PTEN/PI3K/AKT pathway
PMID: 35861040
6
CFDP1 contributes to neuroblastoma development by affecting noradrenergic differentiation
PMID: 36425957
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
Graves diseaseOpen Targets
0.25Weak
hypertensionOpen Targets
0.22Weak
Dupuytren ContractureOpen Targets
0.19Weak
occlusion precerebral arteryOpen Targets
0.17Weak
angina pectorisOpen Targets
0.16Weak
cardiovascular diseaseOpen Targets
0.15Weak
Increased blood pressureOpen Targets
0.15Weak
coronary artery diseaseOpen Targets
0.15Weak
essential hypertensionOpen Targets
0.15Weak
irritable bowel syndromeOpen Targets
0.14Weak
chronic obstructive pulmonary diseaseOpen Targets
0.14Weak
coronary atherosclerosisOpen Targets
0.13Weak
migraine disorderOpen Targets
0.13Weak
Myocardial IschemiaOpen Targets
0.13Weak
sialadenitisOpen Targets
0.12Weak
cerebrovascular disorderOpen Targets
0.11Weak
heart failureOpen Targets
0.11Weak
HeadacheOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MSL1Shared pathway100%HDGFL1Shared pathway100%HIPK4Shared pathway100%HMGB4Shared pathway100%NAA40Shared pathway100%NSD1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Ovary
91%
Bone Marrow
61%
Liver
59%
Lung
48%
Heart
45%
Gene Interaction Network
Click a node to explore
CFDP1MSL1HDGFL1HIPK4HMGB4NAA40NSD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UEE9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.59–1.10]
RankingsWhere CFDP1 stands among ~20K protein-coding genes
  • #7,640of 20,598
    Most Researched60
  • #11,228of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedCFDP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization.
PMID: 28367969
Sci Rep · 2017
1.00
2
PMID: 36425957
HGG Adv · 2023
0.90
3
Expression of human Cfdp1 gene in Drosophila reveals new insights into the function of the evolutionarily conserved BCNT protein family.
PMID: 27151176
Sci Rep · 2016
0.80
4
ChIP-Chip Identifies SEC23A, CFDP1, and NSD1 as TFII-I Target Genes in Human Neural Crest Progenitor Cells.
PMID: 23145914
Cleft Palate Craniofac J · 2013
0.70
5
PMID: 37566073
Cells · 2023
0.60