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25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SFXN1
sideroflexin 1
Chromosome 5 · 5q35.2
NCBI Gene: 94081Ensembl: ENSG00000164466.14HGNC: HGNC:16085UniProt: Q9H9B4
168PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
one-carbon metabolic processprotein bindingL-alanine transmembrane transporter activityL-serine transmembrane transporter activityalcohol drinkingAbruptio Placentaepneumothoraxscoliosis
✦AI Summary

SFXN1 is a mitochondrial inner membrane serine transporter that functions as a critical component of one-carbon metabolism 1. It mediates serine import into mitochondria, where serine is converted to glycine and formate; these products exit to the cytosol to generate charged folates serving as one-carbon donors 1. SFXN1 may also transport alanine and cysteine 1. The transporter functions within a regulatory complex; SERAC1 at the outer mitochondrial membrane facilitates SFXN1-mediated serine transport 2, while the microprotein SMIM26 coordinates serine import with complex I biogenesis through mitoribosome interactions 3. One-carbon metabolism dysfunction from SFXN1 loss impairs nucleotide synthesis and mitochondrial DNA maintenance 2. Clinically, SFXN1 is frequently upregulated in lung adenocarcinoma and bladder cancer, correlating with poor prognosis and enhanced metastatic potential 4 5. However, SFXN1 exhibits context-dependent roles: it promotes cancer progression in lung adenocarcinoma and triple-negative breast cancer through mechanisms beyond classical one-carbon metabolism 6 7, yet loss of SFXN1 in non-viral hepatocellular carcinoma mitigates lipotoxicity and associates with improved survival 8, suggesting tissue-specific or metabolic-context-dependent functions warranting further investigation.

Sources cited
1
SFXN1 functions as mitochondrial serine transporter; serine converts to glycine and formate supporting one-carbon metabolism; may transport other amino acids
PMID: 30442778
2
SERAC1 interacts with SFXN1 to facilitate serine transport; SFXN1 loss impairs one-carbon cycle and causes mtDNA depletion through nucleotide pool disruption
PMID: 35235340
3
SMIM26 microprotein interacts with SFXN1 and mitoribosome to coordinate serine import with complex I translation and mitochondrial tRNA modifications
PMID: 40578345
4
SFXN1 upregulated in lung adenocarcinoma; associated with larger tumors, lymph node metastasis, advanced stage, and poor prognosis; correlates with immune cell infiltration
PMID: 38233752
5
SFXN1 promotes bladder cancer metastasis through PINK1-dependent mitophagy restraint, independent of serine transporter function
PMID: 40468051
6
SFXN1 overexpressed in triple-negative breast cancer; promotes progression through inhibition of TOLLIP-mediated CIP2A degradation
PMID: 38849012
7
Pan-cancer analysis shows SFXN1 differentially expressed across tumor types; silencing decreases proliferation and migration in lung adenocarcinoma cells
PMID: 40052583
8
SFXN1 loss in non-viral hepatocellular carcinoma reduces lipotoxicity and predicts better outcomes independent of viral etiology
PMID: 37296228
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.35Weak
Abruptio PlacentaeOpen Targets
0.28Weak
pneumothoraxOpen Targets
0.13Weak
pleural empyemaOpen Targets
0.13Weak
scoliosisOpen Targets
0.13Weak
Abnormality of refractionOpen Targets
0.11Weak
anaphylaxisOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.10Weak
myeloid leukemiaOpen Targets
0.10Weak
cholelithiasisOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
smoking initiationOpen Targets
0.08Suggestive
bladder transitional cell carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
PainOpen Targets
0.06Suggestive
MODYOpen Targets
0.05Suggestive
essential thrombocythemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SFXN3Shared pathway67%LASP1Shared pathway40%SFXN4Shared pathway33%SFXN2Shared pathway33%ZACNShared pathway29%SFXN5Shared pathway29%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
52%
Brain
45%
Heart
30%
Ovary
28%
Lung
13%
Gene Interaction Network
Click a node to explore
SFXN1SFXN3LASP1SFXN4SFXN2ZACNSFXN5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H9B4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.59–1.06]
RankingsWhere SFXN1 stands among ~20K protein-coding genes
  • #2,659of 20,598
    Most Researched168 · top quartile
  • #10,589of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedSFXN1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism.
PMID: 30442778
Science · 2018
1.00
2
Microprotein SMIM26 drives oxidative metabolism via serine-responsive mitochondrial translation.
PMID: 40578345
Mol Cell · 2025
0.90
3
SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
PMID: 35235340
Sci Transl Med · 2022
0.80
4
Comprehensive analysis the prognostic and immune characteristics of mitochondrial transport-related gene SFXN1 in lung adenocarcinoma.
PMID: 38233752
BMC Cancer · 2024
0.70
5
Sfxn1 is essential for erythrocyte maturation via facilitating hemoglobin production in zebrafish.
PMID: 33524530
Biochim Biophys Acta Mol Basis Dis · 2021
0.68