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

Gene ID: 30061, updated on 9-Jun-2025
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; AllianceGenome:HGNC:10909
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
FPN; 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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See SLC40A1 in Genome Data Viewer
Location:
2q32.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189560590..189580786, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190049828..190070025, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 16848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16850 Neighboring gene WD repeat domain 75 Neighboring gene KDM3A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16851 Neighboring gene uncharacterized LOC105373793 Neighboring gene ASNSD1 upstream open reading frame Neighboring gene asparagine synthetase domain containing 1

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associated conditions

Description Tests
Hemochromatosis type 4
MedGen: C1853733 OMIM: 606069 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
EBI GWAS Catalog

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ferrous iron transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ferrous iron transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ferrous iron transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables iron ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables iron ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
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 metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables peptide hormone binding IDA
Inferred from Direct Assay
more info
PubMed 
enables peptide hormone binding IEA
Inferred from Electronic Annotation
more info
 
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
acts_upstream_of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within endothelium development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in iron ion export across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in iron ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in iron ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within iron ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in iron ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in iron ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within iron ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in iron ion transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lymphocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organismal-level iron ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within spleen development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within spleen trabecula formation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
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 membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IC
Inferred by Curator
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
ferroportin
Names
SLC40 iron transporter
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

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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_014585.6NP_055400.1  ferroportin

    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
    Q6FI62, Q7Z4F8, Q8IVB2, Q9NP59, Q9NRL0
    UniProtKB/TrEMBL
    Q53FP6
    Related
    ENSP00000261024.3, ENST00000261024.7
    Conserved Domains (1) summary
    pfam06963
    Location:22531
    FPN1; Ferroportin1 (FPN1)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    189560590..189580786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444066.1XP_047300022.1  ferroportin isoform X1

    UniProtKB/TrEMBL
    Q53FP6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    190049828..190070025 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341611.1XP_054197586.1  ferroportin isoform X1

    UniProtKB/TrEMBL
    Q53FP6