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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FANK1
fibronectin type III and ankyrin repeat domains 1
Chromosome 10 · 10q26.2
NCBI Gene: 92565Ensembl: ENSG00000203780.13HGNC: HGNC:23527UniProt: Q8TC84
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of apoptotic processnegative regulation of apoptotic processpositive regulation of DNA-templated transcriptiondiaphragm diseaseaneurysminherited hemoglobinopathyAbnormality of limbs
✦AI Summary

FANK1 (fibronectin type III and ankyrin repeat domains 1) is a nuclear protein that regulates apoptosis through activation of the AP-1 signaling pathway 12. The protein contains an N-terminal fibronectin type III domain and five C-terminal ankyrin repeats, showing high evolutionary conservation across vertebrate species 3. FANK1 functions as an anti-apoptotic protein by interacting with JAB1 (Jun activation domain-binding protein 1) to activate the AP-1 pathway, leading to upregulation and activation of c-Jun and its downstream target Bcl-3 2. The protein's stability is regulated through proteasomal degradation, with RYBP and phosphorylated YAF2 both inhibiting its degradation and prolonging its half-life 14. FANK1 is predominantly expressed in testis, specifically in mid to late pachytene spermatocytes and spermatids, suggesting a role in the transition from meiotic to haploid phases of spermatogenesis 3. In disease contexts, FANK1 has been identified as a signature gene in exhausted T cells during pancreatic cancer progression and shows genetic associations with palindromic rheumatism and intravenous immunoglobulin response in Kawasaki disease 567. The gene is subject to epigenetic regulation through rDNA cluster contacts that correspond to repressed chr10 states 8.

Sources cited
1
FANK1 interacts with RYBP and induces tumor cell apoptosis through AP-1 signaling pathway
PMID: 27060496
2
FANK1 functions as anti-apoptotic protein by interacting with JAB1 and activating AP-1 pathway
PMID: 20978819
3
FANK1 protein structure, evolutionary conservation, and testis-specific expression pattern
PMID: 17604233
4
Phosphorylated YAF2 stabilizes FANK1 by inhibiting proteasomal degradation
PMID: 33784512
5
FANK1 identified as signature gene in exhausted T cells during pancreatic cancer progression
PMID: 33819739
6
FANK1 genetic association with palindromic rheumatism
PMID: 37219934
7
FANK1 genetic association with intravenous immunoglobulin response in Kawasaki disease
PMID: 38259468
8
FANK1 gene regulation through rDNA cluster contacts and repressed chromatin states
PMID: 32392195
Disease Associationsⓘ20
diaphragm diseaseOpen Targets
0.23Weak
aneurysmOpen Targets
0.23Weak
inherited hemoglobinopathyOpen Targets
0.08Suggestive
Abnormality of limbsOpen Targets
0.06Suggestive
Abnormality of the immune systemOpen Targets
0.05Suggestive
Uveal MelanomaOpen Targets
0.05Suggestive
nephrotic syndromeOpen Targets
0.03Suggestive
COVID-19Open Targets
0.03Suggestive
spinal cord injuryOpen Targets
0.03Suggestive
facial morphologyOpen Targets
0.03Suggestive
balanoposthitisOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
injuryOpen Targets
0.02Suggestive
spermatoceleOpen Targets
0.02Suggestive
corneal neovascularizationOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.01Suggestive
myxosarcomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
childhood supratentorial ependymomaOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBE2ZShared pathway100%DHX32Protein interaction71%PNMA2Shared pathway50%PHLDA1Shared pathway50%TNFAIP8Shared pathway50%PNMA3Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
68%
Lung
31%
Brain
20%
Heart
13%
Liver
6%
Gene Interaction Network
Click a node to explore
FANK1UBE2ZDHX32PNMA2PHLDA1TNFAIP8PNMA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TC84
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.78–1.27]
RankingsWhere FANK1 stands among ~20K protein-coding genes
  • #13,184of 20,598
    Most Researched24
  • #13,373of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedFANK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell RNA-seq reveals dynamic change in tumor microenvironment during pancreatic ductal adenocarcinoma malignant progression.
PMID: 33819739
EBioMedicine · 2021
1.00
2
YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1- and phosphorylation-dependent manner.
PMID: 33784512
Biochem Biophys Res Commun · 2021
0.90
3
Pharmacogenomics of intravenous immunoglobulin response in Kawasaki disease.
PMID: 38259468
Front Immunol · 2023
0.80
4
Proapoptotic RYBP interacts with FANK1 and induces tumor cell apoptosis through the AP-1 signaling pathway.
PMID: 27060496
Cell Signal · 2016
0.70
5
Fank1 interacts with Jab1 and regulates cell apoptosis via the AP-1 pathway.
PMID: 20978819
Cell Mol Life Sci · 2011
0.60