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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAF1
Fas associated factor 1
Chromosome 1 · 1p32.3
NCBI Gene: 11124Ensembl: ENSG00000185104.22HGNC: HGNC:3578UniProt: Q9UNN5
143PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin protein ligase bindingubiquitin bindingNF-kappaB bindingatrial fibrillationtype 2 diabetes mellitusdiabetes mellitusandrogenetic alopecia
✦AI Summary

FAF1 (Fas Associated Factor 1) is a ubiquitin-binding protein with diverse cellular functions beyond its initial identification in Fas-mediated apoptosis. (a) Primary function: FAF1 serves as a regulatory protein in protein quality control, apoptosis, and developmental processes 1. It is required for DNA replication fork progression by targeting the replication licensing factor CDT1 for degradation and functions as a component of the VCP-NPL4-UFD1 complex involved in aggresome clearance 2. (b) Mechanism: FAF1 operates through multiple pathways including NF-κB signaling regulation, ubiquitin-proteasome system interactions, and protein degradation processes 13. It plays a crucial role in aggresome disassembly by working with p97/VCP to remove ubiquitylated proteins, enabling subsequent autophagy 2. (c) Disease relevance: FAF1 disruption is associated with cleft palate through its role in cranial neural crest cell differentiation 4. Its downregulation contributes to gastric carcinogenesis in H. pylori infections and affects mitochondrial dysfunction pathways 5. (d) Clinical significance: FAF1 expression levels correlate with prognosis in various cancers, with high expression indicating poor outcomes in non-small-cell lung cancer 6, establishing it as both a developmental regulator and potential tumor suppressor.

Sources cited
1
FAF1 functions in diverse biological processes including apoptosis regulation and NFkappaB signaling
PMID: 19597341
2
FAF1 works with p97/VCP complex in aggresome disassembly and clearance via autophagy
PMID: 40335532
3
FAF1 interacts with XIAP and regulates NF-κB signaling pathways
PMID: 28414080
4
FAF1 disruption causes cleft palate through effects on cranial neural crest cell differentiation
PMID: 21295280
5
FAF1 downregulation contributes to gastric carcinogenesis and affects mitochondrial dysfunction pathways
PMID: 26597625
6
High FAF1 expression correlates with poor prognosis in non-small-cell lung cancer
PMID: 37999107
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.42Moderate
type 2 diabetes mellitusOpen Targets
0.41Moderate
diabetes mellitusOpen Targets
0.40Weak
androgenetic alopeciaOpen Targets
0.39Weak
renal carcinomaOpen Targets
0.37Weak
mitral valve diseaseOpen Targets
0.32Weak
hypothyroidismOpen Targets
0.30Weak
nontoxic goiterOpen Targets
0.30Weak
multinodular goiterOpen Targets
0.30Weak
heart failureOpen Targets
0.28Weak
HeadacheOpen Targets
0.28Weak
HypercalcemiaOpen Targets
0.27Weak
device complicationOpen Targets
0.27Weak
prostate carcinomaOpen Targets
0.27Weak
obesityOpen Targets
0.26Weak
Ischemic strokeOpen Targets
0.25Weak
large artery strokeOpen Targets
0.25Weak
hyperparathyroidismOpen Targets
0.24Weak
parathyroid diseaseOpen Targets
0.24Weak
breast diseaseOpen Targets
0.24Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VAPBProtein interaction100%DNTTIP2Protein interaction100%NSFL1CProtein interaction100%ASPSCR1Protein interaction100%UBXN2BProtein interaction100%TNFAIP1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
88%
Bone Marrow
54%
Ovary
45%
Liver
39%
Lung
39%
Gene Interaction Network
Click a node to explore
FAF1VAPBDNTTIP2NSFL1CASPSCR1UBXN2BTNFAIP1
PROTEIN STRUCTURE
Preparing viewer…
PDB7FGN · 1.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.24 [0.14–0.45]
RankingsWhere FAF1 stands among ~20K protein-coding genes
  • #3,194of 20,598
    Most Researched143 · top quartile
  • #2,510of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedFAF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
PMID: 21295280
Am J Hum Genet · 2011
1.00
2
FAS-associated factor 1 (FAF1): diverse functions and implications for oncogenesis.
PMID: 19597341
Cell Cycle · 2009
0.90
3
p97/VCP is required for piecemeal autophagy of aggresomes.
PMID: 40335532
Nat Commun · 2025
0.80
4
XIAP Interacts with and Regulates the Activity of FAF1.
PMID: 28414080
Biochim Biophys Acta Mol Cell Res · 2017
0.70
5
Identification of pathways related to FAF1/H. pylori-associated gastric carcinogenesis through an integrated approach based on iTRAQ quantification and literature review.
PMID: 26597625
J Proteomics · 2016
0.60