Human Gene SLC40A1 (ENST00000261024.7) from GENCODE V44
  Description: Homo sapiens solute carrier family 40 member 1 (SLC40A1), mRNA. (from RefSeq NM_014585)
RefSeq Summary (NM_014585): 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].
Gencode Transcript: ENST00000261024.7
Gencode Gene: ENSG00000138449.11
Transcript (Including UTRs)
   Position: hg38 chr2:189,560,590-189,580,786 Size: 20,197 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr2:189,561,878-189,580,460 Size: 18,583 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:189,560,590-189,580,786)mRNA (may differ from genome)Protein (571 aa)
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-  Comments and Description Text from UniProtKB
  ID: S40A1_HUMAN
DESCRIPTION: RecName: Full=Solute carrier family 40 member 1; AltName: Full=Ferroportin-1; AltName: Full=Iron-regulated transporter 1;
FUNCTION: May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin).
INTERACTION: P05067:APP; NbExp=4; IntAct=EBI-725153, EBI-77613;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=Localized to the basolateral membrane of polarized epithelial cells.
TISSUE SPECIFICITY: Expressed in placenta, intestine, muscle and spleen.
DISEASE: Defects in SLC40A1 are the cause of hemochromatosis type 4 (HFE4) [MIM:606069]. HFE4 is an autosomal dominant iron-loading disorder characterized by early iron accumulation in reticuloendothelial cells and a marked increase in serum ferritin before elevation of the transferrin saturation.
SIMILARITY: Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC40A1";

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: SLC40A1
Diseases sorted by gene-association score: hemochromatosis, type 4* (1590), slc40a1-related hereditary hemochromatosis* (100), hemochromatosis (33), siderosis (15), iron metabolism disease (10), hemosiderosis (10), hemochromatosis type 2 (9), deficiency anemia (8), atransferrinemia (7), tenosynovitis (6), metal metabolism disorder (6), anemia, sideroblastic, 1 (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 272.88 RPKM in Adrenal Gland
Total median expression: 1231.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -122.10326-0.375 Picture PostScript Text
3' UTR -278.301288-0.216 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009716 - Ferroportin-1
IPR016196 - MFS_dom_general_subst_transpt

Pfam Domains:
PF06963 - Ferroportin1 (FPN1)

ModBase Predicted Comparative 3D Structure on Q9NP59
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005381 iron ion transmembrane transporter activity
GO:0005515 protein binding
GO:0015093 ferrous iron transmembrane transporter activity
GO:0017046 peptide hormone binding
GO:0042802 identical protein binding
GO:0097689 iron channel activity

Biological Process:
GO:0002260 lymphocyte homeostasis
GO:0003158 endothelium development
GO:0006811 ion transport
GO:0006826 iron ion transport
GO:0006879 cellular iron ion homeostasis
GO:0034395 regulation of transcription from RNA polymerase II promoter in response to iron
GO:0034755 iron ion transmembrane transport
GO:0043066 negative regulation of apoptotic process
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048536 spleen development
GO:0055072 iron ion homeostasis
GO:0060345 spleen trabecula formation
GO:0060586 multicellular organismal iron ion homeostasis
GO:1903988 ferrous iron export

Cellular Component:
GO:0005622 intracellular
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BX537503 - Homo sapiens mRNA; cDNA DKFZp779A1311 (from clone DKFZp779A1311).
AF215636 - Homo sapiens SLC11A3 iron transporter mRNA, complete cds.
AL136944 - Homo sapiens mRNA; cDNA DKFZp586J0624 (from clone DKFZp586J0624).
BC037733 - Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1, mRNA (cDNA clone MGC:26152 IMAGE:4823308), complete cds.
LP895418 - Sequence 282 from Patent EP3253886.
AK002038 - Homo sapiens cDNA FLJ11176 fis, clone PLACE1007386.
JD560298 - Sequence 541322 from Patent EP1572962.
AK223236 - Homo sapiens mRNA for solute carrier family 40 (iron-regulated transporter), member 1 variant, clone: STM01809.
JD167419 - Sequence 148443 from Patent EP1572962.
JD516103 - Sequence 497127 from Patent EP1572962.
JD052620 - Sequence 33644 from Patent EP1572962.
JD229041 - Sequence 210065 from Patent EP1572962.
JD085271 - Sequence 66295 from Patent EP1572962.
JD061869 - Sequence 42893 from Patent EP1572962.
JD510079 - Sequence 491103 from Patent EP1572962.
JD410872 - Sequence 391896 from Patent EP1572962.
AK292146 - Homo sapiens cDNA FLJ78004 complete cds, highly similar to Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1, mRNA.
AF231121 - Homo sapiens iron-regulated transporter IREG1 (IREG1) mRNA, complete cds.
AF147322 - Homo sapiens full length insert cDNA clone YB21H04.
AF226614 - Homo sapiens ferroportin1 (FPN1) mRNA, complete cds.
BC035893 - Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1, mRNA (cDNA clone MGC:46472 IMAGE:5213437), complete cds.
CR533564 - Homo sapiens full open reading frame cDNA clone RZPDo834H0721D for gene SLC40A1, solute carrier family 40 (iron-regulated transporter), member 1; complete cds, incl. stopcodon.
JD156040 - Sequence 137064 from Patent EP1572962.
JD282437 - Sequence 263461 from Patent EP1572962.
AK314827 - Homo sapiens cDNA, FLJ95707, Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3 (SLC11A3), mRNA.
KJ898767 - Synthetic construct Homo sapiens clone ccsbBroadEn_08161 SLC40A1 gene, encodes complete protein.
KR711009 - Synthetic construct Homo sapiens clone CCSBHm_00018931 SLC40A1 (SLC40A1) mRNA, encodes complete protein.
KR711010 - Synthetic construct Homo sapiens clone CCSBHm_00018941 SLC40A1 (SLC40A1) mRNA, encodes complete protein.
KR711011 - Synthetic construct Homo sapiens clone CCSBHm_00018956 SLC40A1 (SLC40A1) mRNA, encodes complete protein.
KR711012 - Synthetic construct Homo sapiens clone CCSBHm_00018959 SLC40A1 (SLC40A1) mRNA, encodes complete protein.
DQ890880 - Synthetic construct clone IMAGE:100003510; FLH166742.01X; RZPDo839C0988D solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1) gene, encodes complete protein.
DQ894034 - Synthetic construct Homo sapiens clone IMAGE:100008494; FLH166738.01L; RZPDo839C0987D solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1) gene, encodes complete protein.
AB463271 - Synthetic construct DNA, clone: pF1KB8672, Homo sapiens SLC40A1 gene for solute carrier family 40 (iron-regulated transporter), member 1, without stop codon, in Flexi system.
AM393277 - Synthetic construct Homo sapiens clone IMAGE:100001858 for hypothetical protein (SLC40A1 gene).
KJ904734 - Synthetic construct Homo sapiens clone ccsbBroadEn_14128 SLC40A1 gene, encodes complete protein.
AF171087 - Homo sapiens MSTP079 (MST079) mRNA, complete cds.
DQ065759 - Homo sapiens ferroportin 1 variant I (SLC40A1) mRNA, partial cds.
DQ065761 - Homo sapiens ferroportin 1 variant IIB (SLC40A1) mRNA, partial cds.
DQ065760 - Homo sapiens ferroportin 1 variant IIA (SLC40A1) mRNA, partial cds.
DQ065762 - Homo sapiens putative ferroportin 1 variant IIIA (SLC40A1) mRNA, partial cds.
DQ065763 - Homo sapiens putative ferroportin 1 variant IIIB (SLC40A1) mRNA, partial cds.
DQ065764 - Homo sapiens putative ferroportin 1 variant IIIC (SLC40A1) mRNA, partial cds.
JD186844 - Sequence 167868 from Patent EP1572962.
JD131733 - Sequence 112757 from Patent EP1572962.
JD226860 - Sequence 207884 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NP59 (Reactome details) participates in the following event(s):

R-HSA-442368 SLC40A1:HEPH:6Cu2+ transports Fe2+ from cytosol to extracellular region
R-HSA-917933 SLC40A1:HEPH:6Cu2+ oxidises 4Fe2+ to 4Fe3+
R-HSA-904830 SLC40A1:CP:6Cu2+ transports Fe2+ from cytosol to extracellular region
R-HSA-917891 SLC40A1:CP:6Cu2+ oxidises Fe2+ to Fe3+
R-HSA-425410 Metal ion SLC transporters
R-HSA-917937 Iron uptake and transport
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-382551 Transport of small molecules
R-HSA-425407 SLC-mediated transmembrane transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000261024.1, ENST00000261024.2, ENST00000261024.3, ENST00000261024.4, ENST00000261024.5, ENST00000261024.6, FPN1, IREG1, MSTP079, NM_014585, Q6FI62, Q7Z4F8, Q8IVB2, Q9NP59, Q9NRL0, S40A1_HUMAN, SLC11A3, uc002uqp.1, uc002uqp.2, uc002uqp.3, uc002uqp.4, uc002uqp.5, uc002uqp.6
UCSC ID: ENST00000261024.7
RefSeq Accession: NM_014585
Protein: Q9NP59 (aka S40A1_HUMAN or S401_HUMAN)
CCDS: CCDS2299.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.