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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LITAF
lipopolysaccharide induced TNF factor
Chromosome 16 Β· 16p13.13
NCBI Gene: 9516Ensembl: ENSG00000189067.16HGNC: HGNC:16841UniProt: Q99732
98PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnuclear speckzinc ion bindingidentical protein bindingCharcot-Marie-Tooth disease type 1CCharcot-Marie-Tooth diseaseinflammatory bowel diseasegenetic disorder
✦AI Summary

LITAF (lipopolysaccharide induced TNF factor) is a multifunctional protein that serves dual roles as both a transcription factor and an E3 ubiquitin ligase. As a transcription factor, LITAF regulates cytokine expression and inflammatory responses, with the ability to bind DNA and potentially synergize with STAT6 in transcriptional regulation 1. In its role as an E3 ubiquitin ligase, LITAF participates in protein degradation pathways, including the regulation of MCL-1 ubiquitination which affects mitochondrial autophagy 2. LITAF also functions in endosomal protein trafficking and targeting proteins for lysosomal degradation. The protein exhibits context-dependent effects in different diseases. In colorectal cancer, LITAF acts as a tumor suppressor, being downregulated in tumors and inhibiting cancer cell stemness, metastasis, and malignant behavior through regulation of the FOXO1-mediated SIRT1 signaling pathway 3. Conversely, in epilepsy, upregulated LITAF contributes to neuronal damage by promoting MCL-1 ubiquitination and inhibiting mitochondrial autophagy 2. LITAF is also associated with Charcot-Marie-Tooth disease type 1C, a demyelinating peripheral neuropathy 4. Additionally, LITAF serves as a cellular receptor for Bacillus cereus hemolysin BL toxin, contributing to host-pathogen interactions and inflammasome activation 5.

Sources cited
1
LITAF acts as a transcription factor that can bind DNA and potentially synergize with STAT6
PMID: 15197774
2
LITAF functions as an E3 ubiquitin ligase that regulates MCL-1 ubiquitination and affects mitochondrial autophagy
PMID: 39764629
3
LITAF acts as a tumor suppressor in colorectal cancer, inhibiting stemness and metastasis through FOXO1-SIRT1 signaling
PMID: 37266842
4
LITAF contributes to neuronal damage in epilepsy by promoting MCL-1 ubiquitination
PMID: 39764629
5
LITAF is associated with Charcot-Marie-Tooth disease type 1C
PMID: 25614874
6
LITAF serves as a receptor for Bacillus cereus hemolysin BL toxin and contributes to inflammasome activation
PMID: 33004259
Disease Associationsβ“˜21
Charcot-Marie-Tooth disease type 1COpen Targets
0.77Strong
Charcot-Marie-Tooth diseaseOpen Targets
0.53Moderate
inflammatory bowel diseaseOpen Targets
0.45Moderate
genetic disorderOpen Targets
0.41Moderate
Crohn's diseaseOpen Targets
0.40Weak
cholelithiasisOpen Targets
0.39Weak
alcohol drinkingOpen Targets
0.39Weak
ulcerative colitisOpen Targets
0.34Weak
acute tonsillitisOpen Targets
0.32Weak
liver diseaseOpen Targets
0.31Weak
gallstonesOpen Targets
0.28Weak
Tip-toe gaitOpen Targets
0.27Weak
spondylolisthesisOpen Targets
0.24Weak
benign prostatic hyperplasiaOpen Targets
0.23Weak
Charcot-Marie-Tooth disease type 1Open Targets
0.18Weak
distal hereditary motor neuropathyOpen Targets
0.15Weak
Malignant Pancreatic NeoplasmOpen Targets
0.07Suggestive
Autosomal dominant intermediate Charcot-Marie-Tooth disease type BOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease dominant intermediate BOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease, dominant intermediate AOpen Targets
0.03Suggestive
Charcot-Marie-Tooth disease, demyelinating, type 1CUniProt
Pathogenic Variants8
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)Pathogenic
Charcot-Marie-Tooth disease type 1C|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 115
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)Pathogenic
Charcot-Marie-Tooth disease type 1C|not provided|Charcot-Marie-Tooth disease|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 112
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)Pathogenic
Charcot-Marie-Tooth disease type 1C|Charcot-Marie-Tooth disease
β˜…β˜…β˜†β˜†2024β†’ Residue 111
NM_001136472.2(LITAF):c.403C>G (p.Pro135Ala)Likely pathogenic
Charcot-Marie-Tooth disease type 1C
β˜…β˜†β˜†β˜†2022β†’ Residue 135
NM_001136472.2(LITAF):c.232A>T (p.Thr78Ser)Likely pathogenic
Tip-toe gait
β˜…β˜†β˜†β˜†2022β†’ Residue 78
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)Pathogenic
Charcot-Marie-Tooth disease type 1C
β˜…β˜†β˜†β˜†2022β†’ Residue 116
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)Pathogenic
Charcot-Marie-Tooth disease type 1C|Charcot-Marie-Tooth disease
β˜…β˜†β˜†β˜†2020β†’ Residue 135
NM_001136472.2(LITAF):c.364C>G (p.Leu122Val)Pathogenic
Charcot-Marie-Tooth disease type 1C
β˜†β˜†β˜†β˜†2005β†’ Residue 122
View on ClinVar β†—
Related Genes
NEDD4Protein interaction83%EMP2Protein interaction76%ITCHProtein interaction75%RNMTProtein interaction71%SH3TC2Protein interaction56%LITAFDShared pathway50%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
50%
Brain
44%
Liver
42%
Ovary
30%
Heart
19%
Gene Interaction Network
Click a node to explore
LITAFNEDD4EMP2ITCHRNMTSH3TC2LITAFD
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q99732
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.58 [0.35–1.02]
RankingsWhere LITAF stands among ~20K protein-coding genes
  • #4,891of 20,598
    Most Researched98 Β· top quartile
  • #3,057of 5,498
    Most Pathogenic Variants8
  • #9,948of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedLITAF
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Bacillus cereus: Epidemiology, Virulence Factors, and Host-Pathogen Interactions.
PMID: 33004259
Trends Microbiol Β· 2021
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
PMID: 25614874
Mol Genet Genomic Med Β· 2014
0.80
4
Glucocorticoids, genes and brain function.
PMID: 29180230
Prog Neuropsychopharmacol Biol Psychiatry Β· 2018
0.70
5
Current Challenges and Opportunities in Treating Glioblastoma.
PMID: 29669750
Pharmacol Rev Β· 2018
0.60