SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 [Homo sapiens] - Gene

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Summary

Official Symbol: SLC40A1provided by HGNC
Official Full Name: solute carrier family 40 (iron-regulated transporter), member 1provided by HGNC
Primary source: HGNC:10909
Locus tag: MSTP079
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]

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Genomic context

Location :: 2q32

Sequence :: Chromosome: 2; NC_000002.11 (190425316..190445537, complement)

See SLC40A1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Four SLC40A1 single-nucleotide polymorphisms (SNPs) were associated with an increased risk of tuberculosis and 1 SNP with reduced risk.
Title: Polymorphisms in the gene that encodes the iron transport protein ferroportin 1 influence susceptibility to tuberculosis.
Mn is a substrate for FPN1, and that this export process is inhibited by a low extracellular pH and by incubation in a high K(+) medium, indicating the involvement of transmembrane ion gradients in FPN1-mediated transport.
Title: The iron transporter ferroportin can also function as a manganese exporter.
Letter: Report Absence of functional mutations in the ferroportin-encoding SLC40A1 gene in porphyria cutanea tarda.
Title: Absence of functional mutations in the ferroportin-encoding SLC40A1 gene in porphyria cutanea tarda: a series of 37 cases from southern France.
Report mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
Title: Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
This study confirmed the presence of Q248H mutation at polymorphic frequencies in three native sub-Saharan populations.
Title: SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples.
Identified a G to A nucleotide change at position 238 in the ferroportin gene leading to the G80S substitution. The G80S mutation results in a mutated ferroportin associated with iron overload and is predicted to be defective in iron export.
Title: G80S-linked ferroportin disease: classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective.
Members of families with ferroportin disease should be screened for biochemical parameters of iron metabolism as well as genotype to detect silent mutations that might cause disease with acquired or genetic cofactors
Title: Sex and acquired cofactors determine phenotypes of ferroportin disease.
Intestinal FPN protein is upregulated in anemic Crohn's disease.
Title: Intestinal ferroportin expression in pediatric Crohn's disease.
Nrf2 regulates iron efflux from macrophages through Fpn1 gene transcription
Title: Nrf2 regulates ferroportin 1-mediated iron efflux and counteracts lipopolysaccharide-induced ferroportin 1 mRNA suppression in macrophages.
Expression of ferroportin was associated with reduced HIV-1 transcription.
Title: Hepcidin induces HIV-1 transcription inhibited by ferroportin.

Submit: New GeneRIF Correction See all (65)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
NP_055400.1	NP_066998.1	HAMP	BIND	PubMed	Hepcidin interacts with ferroportin.
Q9NP59	Q8NBJ4	GOLM1	HPRD	PubMed
Q9NP59	P81172	HAMP	HPRD	PubMed
BioGRID:119033	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western

Function	Evidence Code	Pubs
iron ion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
iron ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info

Process	Evidence Code	Pubs
anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
apoptotic process	IEA Inferred from Electronic Annotation more info
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
ion transport	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
spleen trabecula formation	IEA Inferred from Electronic Annotation more info
transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	TAS Traceable Author Statement more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	TAS Traceable Author Statement more info	PubMed
integral to plasma membrane	IC Inferred by Curator more info	PubMed
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

General protein information

Preferred Names: solute carrier family 40 member 1

Names: solute carrier family 40 member 1; iron regulated gene 1; putative ferroportin 1 variant IIIB; solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3

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NCBI Reference Sequences (RefSeq)

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

NG_009027.1 RefSeqGene

Range

5001..25222

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014585.5 → NP_055400.1 solute carrier family 40 member 1

Status: REVIEWED

Source sequence(s)

BC037733, DA806565

Consensus CDS

CCDS2299.1

UniProtKB/TrEMBL

Q6FI62

UniProtKB/Swiss-Prot

Q9NP59

Related

ENSP00000261024, OTTHUMP00000163497, ENST00000261024, OTTHUMT00000255916

Conserved Domains (1) summary

pfam06963
Location:22 – 531
Blast Score: 1269

FPN1; Ferroportin1 (FPN1)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

190425316..190445537, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

182284805..182305032, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC013439.11	AAX93082.1
genomic	AJ609539.1	CAE81347.1
genomic	AJ609540.1	CAE81348.1
genomic	CH471058.2	EAX10901.1
		EAX10902.1
genomic	CQ977117.1	CAI45360.1
mRNA	AF147322.1	None
mRNA	AF171087.1	AAQ13603.1
mRNA	AF215636.1	AAF80986.1
mRNA	AF226614.1	AAF36697.1
mRNA	AF231121.1	AAF44330.1
mRNA	AK002038.1	BAA92049.1
mRNA	AK223236.1	BAD96956.1
mRNA	AK292146.1	BAF84835.1
mRNA	AK314827.1	BAG37348.1
mRNA	AL136944.1	CAB66878.1
mRNA	BC035893.1	AAH35893.1
mRNA	BC037733.1	AAH37733.1
mRNA	CR533564.1	CAG38595.1
mRNA	DA806565.1	None
mRNA	DQ065759.1	AAY78556.1
mRNA	DQ065760.1	AAY78557.1
mRNA	DQ065761.1	AAY78558.1
mRNA	DQ065763.1	AAY78560.1
mRNA	DQ065764.1	AAY78561.1
other-genetic	AM393277.1	CAL38155.1
other-genetic	DQ890880.2	ABM81806.1
other-genetic	DQ894034.2	ABM84960.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q4PNE2	GenPept	UniProtKB/TrEMBL:Q4PNE2
Q4PNE3	GenPept	UniProtKB/TrEMBL:Q4PNE3
Q4PNE4	GenPept	UniProtKB/TrEMBL:Q4PNE4
Q4PNE6	GenPept	UniProtKB/TrEMBL:Q4PNE6
Q53FP6	GenPept	UniProtKB/TrEMBL:Q53FP6
Q6FI62	GenPept	UniProtKB/TrEMBL:Q6FI62
Q9NP59.1	GenPept	UniProtKB/Swiss-Prot:Q9NP59
Q9NUS1	GenPept	UniProtKB/TrEMBL:Q9NUS1