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SLC40A1 solute carrier family 40 member 1 [ Homo sapiens (human) ]

Gene ID: 30061, updated on 12-Sep-2021

Summary

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Official Symbol
SLC40A1provided by HGNC
Official Full Name
solute carrier family 40 member 1provided by HGNC
Primary source
HGNC:HGNC:10909
See related
Ensembl:ENSG00000138449 MIM:604653
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FPN1; HFE4; MTP1; IREG1; MST079; MSTP079; SLC11A3
Summary
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]
Expression
Broad expression in spleen (RPKM 192.7), ovary (RPKM 171.6) and 22 other tissues See more
Orthologs
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Genomic context

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See SLC40A1 in Genome Data Viewer
Location:
2q32.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (189560590..189580811, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190425316..190445512, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 75 Neighboring gene KDM3A pseudogene 1 Neighboring gene uncharacterized LOC105373793 Neighboring gene ASNSD1 upstream open reading frame Neighboring gene asparagine synthetase domain containing 1 Neighboring gene ankyrin and armadillo repeat containing

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue. Le Tertre M, et al. Int J Mol Sci, 2021 Jun 15. PMID 34203920, Free PMC Article
  2. Downregulation of FPN1 acts as a prognostic biomarker associated with immune infiltration in lung cancer. Liu B, et al. Aging (Albany NY), 2021 Mar 10. PMID 33714956, Free PMC Article
  3. Ferroportin-Dependent Iron Homeostasis Protects against Oxidative Stress-Induced Nucleus Pulposus Cell Ferroptosis and Ameliorates Intervertebral Disc Degeneration In Vivo. Lu S, et al. Oxid Med Cell Longev, 2021. PMID 33628376, Free PMC Article
  4. Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes. Le Tertre M, et al. Blood Cells Mol Dis, 2021 Mar. PMID 33341511
  5. Structure of hepcidin-bound ferroportin reveals iron homeostatic mechanisms. Billesbølle CB, et al. Nature, 2020 Oct. PMID 32814342, Free PMC Article

See all (182) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ferroportin-Dependent Iron Homeostasis Protects against Oxidative Stress-Induced Nucleus Pulposus Cell Ferroptosis and Ameliorates Intervertebral Disc Degeneration In Vivo.
    Title: Ferroportin-Dependent Iron Homeostasis Protects against Oxidative Stress-Induced Nucleus Pulposus Cell Ferroptosis and Ameliorates Intervertebral Disc Degeneration <i>In Vivo</i>.
  2. Downregulation of FPN1 acts as a prognostic biomarker associated with immune infiltration in lung cancer.
    Title: Downregulation of FPN1 acts as a prognostic biomarker associated with immune infiltration in lung cancer.
  3. Ferroportin disease: A novel SLC40A1 mutation.
    Title: Ferroportin disease: A novel SLC40A1 mutation.
  4. Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.
    Title: Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.
  5. Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
    Title: Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
  6. Iron Availability in Tissue Microenvironment: The Key Role of Ferroportin.
    Title: Iron Availability in Tissue Microenvironment: The Key Role of Ferroportin.
  7. The role of cellular iron deficiency in controlling iron export.
    Title: The role of cellular iron deficiency in controlling iron export.
  8. miR-194-5p inhibits SLC40A1 expression to induce cisplatin resistance in ovarian cancer.
    Title: miR-194-5p inhibits SLC40A1 expression to induce cisplatin resistance in ovarian cancer.
  9. Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays.
    Title: Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays.
  10. Structure of hepcidin-bound ferroportin reveals iron homeostatic mechanisms.
    Title: Structure of hepcidin-bound ferroportin reveals iron homeostatic mechanisms.
Submit: New GeneRIF Correction See all GeneRIFs (139)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hemochromatosis type 4
MedGen: C1853733 OMIM: 606069 GeneReviews: Not available
Compare labs
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC40A1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ferrous iron transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables iron ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables iron ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables iron ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables peptide hormone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in iron ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in iron ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in iron ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in multicellular organismal iron ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in integral component of membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in integral component of plasma membrane IC
Inferred by Curator
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
solute carrier family 40 member 1
Names
iron regulated gene 1
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3
solute carrier family 40 (iron-regulated transporter), member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009027.1 RefSeqGene

    Range
    5001..25222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_837

mRNA and Protein(s)

  1. NM_014585.6 → NP_055400.1  solute carrier family 40 member 1

    See identical proteins and their annotated locations for NP_055400.1

    Status: REVIEWED

    Source sequence(s)
    BC037733, DA806565
    Consensus CDS
    CCDS2299.1
    UniProtKB/Swiss-Prot
    Q9NP59
    Related
    ENSP00000261024.3, ENST00000261024.7
    Conserved Domains (1) summary
    pfam06963
    Location:22 → 531
    FPN1; Ferroportin1 (FPN1)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    189560590..189580811 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246505.2 → XP_005246562.1  solute carrier family 40 member 1 isoform X1

    See identical proteins and their annotated locations for XP_005246562.1

    Conserved Domains (1) summary
    pfam06963
    Location:1 → 491
    FPN1; Ferroportin1 (FPN1)

  2. XM_017003938.2 → XP_016859427.1  solute carrier family 40 member 1 isoform X1

    Conserved Domains (1) summary
    pfam06963
    Location:1 → 491
    FPN1; Ferroportin1 (FPN1)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NP59.1 GenPept UniProtKB/Swiss-Prot:Q9NP59

Gene LinkOut

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