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

Gene ID: 30061, updated on 24-Nov-2020

Summary

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

Genomic context

See SLC40A1 in Genome Data Viewer
Location:
2q32.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 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 KDM3A pseudogene 1 Neighboring gene uncharacterized LOC105373793 Neighboring gene ASNSD1 upstream reading frame Neighboring gene asparagine synthetase domain containing 1 Neighboring gene ankyrin and armadillo repeat containing

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
iron ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
iron ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
divalent inorganic cation transport IEA
Inferred from Electronic Annotation
more info
 
endothelium development IEA
Inferred from Electronic Annotation
more info
 
iron ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IC
Inferred by Curator
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
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
 

General protein information

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)

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  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
    ENSP00000261024.2, ENST00000261024.6
    Conserved Domains (1) summary
    pfam06963
    Location:22531
    FPN1; Ferroportin1 (FPN1)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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_005246505.2XP_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:1491
    FPN1; Ferroportin1 (FPN1)
  2. XM_017003938.2XP_016859427.1  solute carrier family 40 member 1 isoform X1

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