SLC40A1
Ferroportin
Also known as: FPN1, HFE4, IREG1, MTP1, S40A1_HUMAN, SLC11A3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NP59
- Gene
- SLC40A1
- Ensembl
- ENSG00000138449
- Chromosome
- 2
- Canonical length
- 571 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Plasma membrane,Cytosol
OverviewNCBI Gene
The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
571 residues, UniProt reviewed canonical sequence.
>Q9NP59|SLC40A1
1 MTRAGDHNRQ RGCCGSLADY LTSAKFLLYL GHSLSTWGDR MWHFAVSVFL VELYGNSLLL
61 TAVYGLVVAG SVLVLGAIIG DWVDKNARLK VAQTSLVVQN VSVILCGIIL MMVFLHKHEL
121 LTMYHGWVLT SCYILIITIA NIANLASTAT AITIQRDWIV VVAGEDRSKL ANMNATIRRI
181 DQLTNILAPM AVGQIMTFGS PVIGCGFISG WNLVSMCVEY VLLWKVYQKT PALAVKAGLK
241 EEETELKQLN LHKDTEPKPL EGTHLMGVKD SNIHELEHEQ EPTCASQMAE PFRTFRDGWV
301 SYYNQPVFLA GMGLAFLYMT VLGFDCITTG YAYTQGLSGS ILSILMGASA ITGIMGTVAF
361 TWLRRKCGLV RTGLISGLAQ LSCLILCVIS VFMPGSPLDL SVSPFEDIRS RFIQGESITP
421 TKIPEITTEI YMSNGSNSAN IVPETSPESV PIISVSLLFA GVIAARIGLW SFDLTVTQLL
481 QENVIESERG IINGVQNSMN YLLDLLHFIM VILAPNPEAF GLLVLISVSF VAMGHIMYFR
541 FAQNTLGNKL FACGPDAKEV RKENQANTSV VLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC40A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 347 nTPM
Expression across tissuesHPA
Tissue
- spleen: 347 nTPM
- adrenal gland: 322 nTPM
- duodenum: 272 nTPM
- ovary: 238 nTPM
- liver: 235 nTPM
- placenta: 235 nTPM
Single-cell type
- kupffer cells: 3,945 nCPM
- syncytiotrophoblasts: 3,638 nCPM
- platelets: 987 nCPM
- cytotrophoblasts: 591 nCPM
- megakaryocyte-erythroid progenitors: 469 nCPM
- fallopian secretory cells: 410 nCPM
Immune cell
- neutrophil: 328 nTPM
- eosinophil: 173 nTPM
- basophil: 130 nTPM
- myeloid DC: 116 nTPM
- total PBMC: 106 nTPM
- classical monocyte: 102 nTPM
Brain region
- midbrain: 27 nTPM
- spinal cord: 26 nTPM
- medulla oblongata: 25 nTPM
- thalamus: 22 nTPM
- hypothalamus: 18 nTPM
- basal ganglia: 18 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC40A1.
Disease | AllUniProt
Conditions SLC40A1 is implicated in, by any mechanism.
- Hemochromatosis 4 (HFE4) MIM:606069
Disease | GeneticClinVar
41 pathogenic / likely-pathogenic of 335 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hemochromatosis type 4
- SLC40A1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 1.92
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- endothelium development
- establishment of localization in cell
- intracellular iron ion homeostasis
- iron ion transmembrane transport
- lymphocyte homeostasis
- multicellular organismal-level iron ion homeostasis
- negative regulation of apoptotic process
- positive regulation of transcription by RNA polymerase II
- transcription by RNA polymerase II
- iron ion export across plasma membrane
- spleen trabecula formation
Molecular functions
- ferrous iron transmembrane transporter activity
- identical protein binding
- iron ion transmembrane transporter activity
- metal ion binding
- peptide hormone binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- MFS transporter superfamily
- Ferroportin-1
- Ferroportin1 (FPN1)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC40A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC40A1 as an antibody target. Whether an autoantibody or antibody against SLC40A1 could matter depends on whether native SLC40A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC40A1 is annotated at the cell surface, where native SLC40A1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC40A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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