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

    Gene ID: 30061, updated on 29-Jan-2023

    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; 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
    NEW
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    Genomic context

    See SLC40A1 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189560590..189580786, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190049828..190070025, complement)
    105.20220307 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

    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

    EBI GWAS Catalog

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

    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
    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
    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 metal ion binding IEA
    Inferred from Electronic Annotation
    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 apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endothelium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 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 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 lymphocyte 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
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription from RNA polymerase II promoter in response to iron IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spleen trabecula formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II 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
    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 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 TAS
    Traceable Author Statement
    more info
     
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    solute carrier family 40 member 1
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q9NRL0
      Related
      ENSP00000261024.3, ENST00000261024.7
      Conserved Domains (1) summary
      pfam06963
      Location:22531
      FPN1; Ferroportin1 (FPN1)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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  solute carrier family 40 member 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

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