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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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XAF1
XIAP associated factor 1
Chromosome 17 · 17p13.1
NCBI Gene: 54739Ensembl: ENSG00000132530.18HGNC: HGNC:30932UniProt: Q6GPH4
93PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmolecular sequestering activitynucleoplasmmitochondrionpathological myopiacervical carcinomaneoplasmcancer
✦AI Summary

XAF1 (XIAP-associated factor 1) is a zinc-rich interferon-induced protein that functions as a negative regulator of anti-apoptotic proteins, particularly XIAP/BIRC4. XAF1 promotes apoptosis through multiple mechanisms: it induces caspase-independent cleavage and inactivation of BIRC4, facilitates mitochondrial translocation of BAX, and mediates cytochrome c release 1. XAF1 expression is regulated circadianly by microRNA-21, with elevated XAF1 levels promoting TNF-, FAS-, and perforin/granzyme-induced apoptosis in immune cells 123. In infectious disease contexts, XAF1 is upregulated during COVID-19 and tuberculosis infections, contributing to T cell apoptosis and immune dysregulation 324. Paradoxically, XAF1 exhibits context-dependent oncogenic functions: in colorectal cancer, XAF1 acts as a VCP adaptor promoting metastasis via the VCP-RNF114-JUP signaling axis 5. Additionally, XAF1 repression by LRP1-mediated signaling suppresses breast cancer metastasis, suggesting XAF1 as a metastasis-promoting factor in this context 6. These findings indicate XAF1 serves dual roles: promoting protective apoptosis in normal and infected cells while facilitating cancer cell metastasis through distinct molecular mechanisms.

Sources cited
1
XAF1 expression is circadianly regulated by miR-21 and promotes apoptosis in atherosclerotic lesions; XAF1 is a proapoptotic target of miR-21
PMID: 34233454
2
XAF1-induced apoptosis is upregulated in severe tuberculosis patients, contributing to lymphopenia in CD8+ T cells and NK cells
PMID: 37003521
3
XAF1 mediates TNF- and FAS-induced T cell apoptosis in COVID-19 patients
PMID: 32783921
4
XAF1 is a PANoptosis-related gene upregulated in sepsis patients with high PANscore, associated with B cell clustering
PMID: 38239341
5
XAF1 promotes colorectal cancer metastasis by functioning as a VCP adaptor in the XAF1-VCP-RNF114-JUP axis
PMID: 38095639
6
XAF1 is repressed by LRP1 receptor-mediated signaling and acts as a metastasis-suppressing gene in breast cancer
PMID: 39657676
Disease Associationsⓘ20
pathological myopiaOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.18Weak
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
neuroblastomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.06Suggestive
MODYOpen Targets
0.05Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.05Suggestive
viral diseaseOpen Targets
0.05Suggestive
diabetes mellitusOpen Targets
0.05Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.05Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.05Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STAT2Protein interaction96%RSAD2Protein interaction95%RTP4Protein interaction92%DHX58Protein interaction91%HERC6Protein interaction90%TRIM22Protein interaction90%
Tissue Expression6 tissues
Ovary
100%
Liver
79%
Heart
51%
Lung
39%
Bone Marrow
31%
Brain
5%
Gene Interaction Network
Click a node to explore
XAF1STAT2RSAD2RTP4DHX58HERC6TRIM22
PROTEIN STRUCTURE
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PDB2LXW · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.74–1.28]
RankingsWhere XAF1 stands among ~20K protein-coding genes
  • #5,174of 20,598
    Most Researched93
  • #13,495of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedXAF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated analysis of single-cell RNA-seq and chipset data unravels PANoptosis-related genes in sepsis.
PMID: 38239341
Front Immunol · 2023
1.00
2
A commonly inherited human PCSK9 germline variant drives breast cancer metastasis via LRP1 receptor.
PMID: 39657676
Cell · 2025
0.90
3
Single-Cell Sequencing of Peripheral Mononuclear Cells Reveals Distinct Immune Response Landscapes of COVID-19 and Influenza Patients.
PMID: 32783921
Immunity · 2020
0.80
4
Systemic immune dysregulation in severe tuberculosis patients revealed by a single-cell transcriptome atlas.
PMID: 37003521
J Infect · 2023
0.70
5
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
0.60