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GeneE
25 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.
SLC40A1
solute carrier family 40 member 1
Chromosome 2 Β· 2q32.2
NCBI Gene: 30061Ensembl: ENSG00000138449.12HGNC: HGNC:10909UniProt: Q9NP59
208PubMed Papers
21Diseases
0Drugs
42Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
iron ion transmembrane transporter activityprotein bindingferrous iron transmembrane transporter activitypeptide hormone bindinghemochromatosis type 4infantile epileptic encephalopathyhereditary hemochromatosisrestless legs syndrome
✦AI Summary

SLC40A1 (ferroportin) is the sole mammalian cellular iron exporter, transporting ferrous iron (Fe2+) from the cytoplasm to the extracellular space 1. It is essential for systemic iron homeostasis, mediating iron efflux from intestinal enterocytes (dietary iron absorption), splenic and hepatic macrophages (iron recycling), and hepatocytes (iron storage release) 1. SLC40A1 is the key functional target of hepcidin, the iron-regulatory hormone; elevated serum hepcidin causes SLC40A1 degradation, reducing iron export during iron excess, while decreased hepcidin during iron deficiency permits ferroportin-mediated iron delivery to plasma 1. Dysregulated SLC40A1 expression impairs cellular iron metabolism, leading to intracellular iron accumulation and ferroptosis 2. Mutations in SLC40A1 that disrupt hepcidin binding cause ferroportin disease, an autosomal dominant hemochromatosis characterized by cellular iron retention in reticuloendothelial cells with high serum ferritin and low-normal transferrin saturation 3. SLC40A1 dysfunction in tumor-associated macrophages correlates with poor prognosis in hepatocellular carcinoma 4. These findings establish SLC40A1 as a critical iron metabolism regulator with implications for both physiological homeostasis and disease pathogenesis.

Sources cited
1
SLC40A1 is the cellular iron exporter regulated by hepcidin; mediates iron export from enterocytes, macrophages, and hepatocytes for systemic iron homeostasis
PMID: 34204327
2
Abnormal SLC40A1 expression causes dysregulated cellular iron metabolism leading to intracellular iron overload and ferroptosis
PMID: 38508867
3
SLC40A1 mutations cause ferroportin disease with cellular iron retention, high serum ferritin, and increased parenchymal iron deposition
PMID: 40225168
4
SLC40A1 expression in tumor-associated macrophages is associated with poor prognosis in hepatocellular carcinoma
PMID: 31675496
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
hemochromatosis type 4Open Targets
0.84Strong
infantile epileptic encephalopathyOpen Targets
0.46Moderate
hereditary hemochromatosisOpen Targets
0.41Moderate
restless legs syndromeOpen Targets
0.41Moderate
aceruloplasminemiaOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.35Weak
genetic disorderOpen Targets
0.19Weak
hereditary hemochromatosis type 1Open Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
Miyoshi myopathyOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.09Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.09Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.09Suggestive
hemochromatosis type 5Open Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
Pyruvate kinase hyperactivityOpen Targets
0.08Suggestive
FTH1-related iron overloadOpen Targets
0.08Suggestive
Myasthenia gravisOpen Targets
0.08Suggestive
Hemochromatosis 4UniProt
Pathogenic Variants42
NM_014585.6(SLC40A1):c.430A>G (p.Asn144Asp)Pathogenic
Hemochromatosis type 4
β˜…β˜…β˜†β˜†2026β†’ Residue 144
NM_014585.6(SLC40A1):c.238G>A (p.Gly80Ser)Pathogenic
Hemochromatosis type 4
β˜…β˜…β˜†β˜†2026β†’ Residue 80
NM_014585.6(SLC40A1):c.533G>A (p.Arg178Gln)Pathogenic
Hemochromatosis type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 178
NM_014585.6(SLC40A1):c.626C>T (p.Ser209Leu)Pathogenic
Hemochromatosis type 4|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 209
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser)Pathogenic
not provided|Hemochromatosis type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 204
NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del)Pathogenic
Hemochromatosis type 4|SLC40A1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 162
NM_014585.6(SLC40A1):c.262A>G (p.Arg88Gly)Pathogenic
not provided|Hemochromatosis type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 88
NM_014585.6(SLC40A1):c.977G>A (p.Cys326Tyr)Pathogenic
Hemochromatosis type 4
β˜…β˜…β˜†β˜†2024β†’ Residue 326
NM_014585.6(SLC40A1):c.263G>C (p.Arg88Thr)Pathogenic
not provided|Hemochromatosis type 4
β˜…β˜…β˜†β˜†2023β†’ Residue 88
NM_014585.6(SLC40A1):c.470A>G (p.Asp157Gly)Likely pathogenic
Hemochromatosis type 4
β˜…β˜…β˜†β˜†2022β†’ Residue 157
NM_014585.6(SLC40A1):c.1469G>A (p.Gly490Asp)Pathogenic
Hemochromatosis type 4|SLC40A1-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 490
NM_014585.6(SLC40A1):c.474G>T (p.Trp158Cys)Pathogenic
Hemochromatosis type 4
β˜…β˜†β˜†β˜†2025β†’ Residue 158
NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp)Pathogenic
Hemochromatosis type 4
β˜…β˜†β˜†β˜†2025β†’ Residue 267
NM_014585.6(SLC40A1):c.430A>C (p.Asn144His)Pathogenic
Hemochromatosis type 4
β˜…β˜†β˜†β˜†2024β†’ Residue 144
NM_014585.6(SLC40A1):c.430A>T (p.Asn144Tyr)Pathogenic
Hemochromatosis type 4
β˜…β˜†β˜†β˜†2023β†’ Residue 144
NM_014585.6(SLC40A1):c.977G>T (p.Cys326Phe)Likely pathogenic
Hemochromatosis type 4
β˜…β˜†β˜†β˜†2022β†’ Residue 326
NM_014585.6(SLC40A1):c.524C>A (p.Ala175Asp)Likely pathogenic
Hemochromatosis type 4
β˜…β˜†β˜†β˜†2021β†’ Residue 175
NM_014585.6(SLC40A1):c.1250_1251insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ser417_Ile418insThrArgThrValTer)Likely pathogenic
Hemochromatosis type 4
β˜…β˜†β˜†β˜†2021β†’ Residue 417
NM_014585.6(SLC40A1):c.1263_1264insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys422delinsValArgLeuThrArgThrValTer)Likely pathogenic
Hemochromatosis type 4
β˜…β˜†β˜†β˜†2021β†’ Residue 422
NM_014585.6(SLC40A1):c.698T>C (p.Leu233Pro)Likely pathogenic
Hemochromatosis type 4
β˜…β˜†β˜†β˜†2020β†’ Residue 233
View on ClinVar β†—
Related Genes
CPProtein interaction98%HFEProtein interaction92%PCBP2Protein interaction87%CYBRD1Protein interaction84%SLC39A1Protein interaction83%ACO1Protein interaction83%
Tissue Expression6 tissues
Ovary
100%
Liver
54%
Heart
40%
Lung
39%
Bone Marrow
33%
Brain
3%
Gene Interaction Network
Click a node to explore
SLC40A1CPHFEPCBP2CYBRD1SLC39A1ACO1
PROTEIN STRUCTURE
Preparing viewer…
PDB6WBV Β· 2.50 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.45Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.29 [0.20–0.45]
RankingsWhere SLC40A1 stands among ~20K protein-coding genes
  • #2,016of 20,598
    Most Researched208 Β· top 10%
  • #1,482of 5,498
    Most Pathogenic Variants42
  • #2,456of 17,882
    Most Constrained (LOEUF)0.45 Β· top quartile
Genes detectedSLC40A1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Landscape and Dynamics of Single Immune Cells in Hepatocellular Carcinoma.
PMID: 31675496
Cell Β· 2019
1.00
2
Hepcidin-Ferroportin Interaction Controls Systemic Iron Homeostasis.
PMID: 34204327
Int J Mol Sci Β· 2021
0.90
3
Haemochromatosis.
PMID: 29620054
Nat Rev Dis Primers Β· 2018
0.80
4
SLC40A1 in iron metabolism, ferroptosis, and disease: A review.
PMID: 38508867
WIREs Mech Dis Β· 2024
0.70
5
Reactivation of MAPK-SOX2 pathway confers ferroptosis sensitivity in KRAS
PMID: 39527862
Redox Biol Β· 2024
0.60