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

Gene ID: 30061, updated on 7-May-2016
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 HPRD:05229; MIM:604653; Vega:OTTHUMG00000132662
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]
Orthologs
Location:
2q32
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (189560590..189580811, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190425316..190448478, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 75 Neighboring gene lysine demethylase 3A pseudogene Neighboring gene uncharacterized LOC105373793 Neighboring gene asparagine synthetase domain containing 1 Neighboring gene ankyrin and armadillo repeat containing

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

Description
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
NHGRI GWA Catalog
  • Iron metabolism in placenta, organism-specific biosystem (from WikiPathways)
    Iron metabolism in placenta, organism-specific biosystemDuring pregnancy, iron is transported from mother to fetus across the placenta. Iron is essential for many biological processes, including the transfer of oxygen in blood, but it can also be toxic. E...
  • Iron uptake and transport, organism-specific biosystem (from REACTOME)
    Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
  • Metal ion SLC transporters, organism-specific biosystem (from REACTOME)
    Metal ion SLC transporters, organism-specific biosystemSix SLC gene families encode proteins which mediate transport of metals. The families are SLC11, SLC30, SLC31, SLC39, SLC40 and SLC41 (He L et al, 2009; Bressler JP et al, 2007).
  • Mineral absorption, organism-specific biosystem (from KEGG)
    Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • Mineral absorption, conserved biosystem (from KEGG)
    Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ferrous iron transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
iron channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
iron ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptide hormone binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
endothelium development IEA
Inferred from Electronic Annotation
more info
 
ferrous iron export ISS
Inferred from Sequence or Structural Similarity
more info
 
iron ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
lymphocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal iron ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter in response to iron IEA
Inferred from Electronic Annotation
more info
 
spleen trabecula formation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IC
Inferred by Curator
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
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

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_014585.5NP_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, OTTHUMP00000163497, ENST00000261024, OTTHUMT00000255916
    Conserved Domains (1) summary
    pfam06963
    Location:22531
    FPN1; Ferroportin1 (FPN1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005246505.1XP_005246562.1  

    See identical proteins and their annotated locations for XP_005246562.1

    Conserved Domains (1) summary
    pfam06963
    Location:1491
    FPN1; Ferroportin1 (FPN1)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    190431102..190451326 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)