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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MFHAS1
multifunctional ROCO family signaling regulator 1
Chromosome 8 · 8p23.1
NCBI Gene: 9258Ensembl: ENSG00000147324.11HGNC: HGNC:16982UniProt: Q9Y4C4
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionlysosomecytoskeletonprotein bindingneurodegenerative diseasehypertensionIrritabilityrisk-taking behaviour
✦AI Summary

MFHAS1 is a multifunctional GTP-binding protein that serves as a critical regulator of innate immune signaling and cellular differentiation. Primary function involves modulating Toll-like receptor (TLR) signaling: MFHAS1 negatively regulates TLR4-mediated AP-1 activation by retaining PP2A phosphatase in the cytoplasm 1, while displaying biphasic effects on TLR2 signaling with inhibitory effects at 6 hours and stimulatory effects after 24 hours through JNK and p38 MAPK activation 23. Beyond immune regulation, MFHAS1 promotes M1 macrophage polarization via STAT6/KLF4 pathways in colorectal cancer progression 4 and attenuates high-glucose-induced inflammation through Akt/HO-1 signaling in endothelial cells 5. MFHAS1 also participates in erythrocyte differentiation via ERK1/2 activation. Disease relevance is substantial: elevated MFHAS1 levels associate with sepsis 2, genetic variants near MFHAS1 link to periodontitis susceptibility 6, systemic lupus erythematosus 7, autism spectrum disorder 8, and lymphoma progression 9. Clinically, MFHAS1 suppression induces breast cancer cell pyroptosis through JNK/NF-κB/caspase-1/GSDMD signaling, positioning MFHAS1 as a potential therapeutic target 10.

Sources cited
1
MFHAS1 negatively regulates TLR4 signaling by retaining PP2A phosphatase in cytoplasm to prevent AP-1 JUN dephosphorylation
PMID: 28609714
2
MFHAS1 exhibits biphasic effects on TLR2 signaling and is elevated in septic patients; induces JNK and p38 phosphorylation
PMID: 26599367
3
MFHAS1 positively regulates TLR2 pathway to activate p38 and JNK MAP kinases and promote M1 macrophage polarization
PMID: 28471450
4
MFHAS1 promotes colorectal cancer progression by regulating TAM polarization toward M2 phenotype via STAT6/KLF4 pathway
PMID: 27783989
5
MFHAS1 attenuates high-glucose-induced inflammation in endothelial cells through Akt/HO-1 signaling pathway
PMID: 29168081
6
MFHAS1 genetic variant associates with periodontitis susceptibility in genome-wide association study
PMID: 40682483
7
MFHAS1 variant (rs2428) associates with systemic lupus erythematosus at genome-wide significance level
PMID: 29625966
8
MFHAS1 identified as novel locus associated with autism spectrum disorder in multi-trait GWAS analysis
PMID: 39580447
9
MFHAS1 mutations associate with disease progression in BCL6-rearrangement positive DLBCL cases
PMID: 38462571
10
MFHAS1 silencing induces breast cancer cell pyroptosis through JNK/NF-κB/caspase-1/GSDMD signaling cascade
PMID: 37936452
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
hypertensionOpen Targets
0.46Moderate
IrritabilityOpen Targets
0.45Moderate
risk-taking behaviourOpen Targets
0.39Weak
essential hypertensionOpen Targets
0.37Weak
endometriosisOpen Targets
0.33Weak
asthmaOpen Targets
0.33Weak
mathematical abilityOpen Targets
0.32Weak
cervical carcinomaOpen Targets
0.31Weak
chronic obstructive pulmonary diseaseOpen Targets
0.31Weak
type 2 diabetes mellitusOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.30Weak
AnxietyOpen Targets
0.30Weak
irritable bowel syndromeOpen Targets
0.30Weak
agingOpen Targets
0.29Weak
attention deficit hyperactivity disorderOpen Targets
0.29Weak
Genu varumOpen Targets
0.26Weak
Hodgkins lymphomaOpen Targets
0.26Weak
sialolithiasisOpen Targets
0.25Weak
Genu valgumOpen Targets
0.24Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLDN23Protein interaction97%PPP1R3BProtein interaction93%PJA2Protein interaction58%NOX4Shared pathway19%ACOD1Shared pathway14%CXCL1Shared pathway14%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
71%
Lung
52%
Heart
46%
Liver
39%
Ovary
20%
Gene Interaction Network
Click a node to explore
MFHAS1CLDN23PPP1R3BPJA2NOX4ACOD1CXCL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y4C4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.53–0.86]
RankingsWhere MFHAS1 stands among ~20K protein-coding genes
  • #11,966of 20,598
    Most Researched30
  • #7,521of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedMFHAS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic Loci Associated With Periodontitis: The FinnGen Study Based on National Health Registers.
PMID: 40682483
J Clin Periodontol · 2025
1.00
2
Silencing MFHAS1 Induces Pyroptosis
PMID: 37936452
Curr Pharm Des · 2023
0.90
3
MFHAS1 Is Associated with Sepsis and Stimulates TLR2/NF-κB Signaling Pathway Following Negative Regulation.
PMID: 26599367
PLoS One · 2015
0.80
4
Shared genetic architecture and causality between autism spectrum disorder and irritable bowel syndrome, multisite pain, and fatigue.
PMID: 39580447
Transl Psychiatry · 2024
0.70
5
High Glucose Stimulates Expression of MFHAS1 to Mitigate Inflammation via Akt/HO-1 Pathway in Human Umbilical Vein Endothelial Cells.
PMID: 29168081
Inflammation · 2018
0.60