• Gene id: 30061

Gene Summary

• Gene Symbol: SLC40A1   Gene   UCSC   Ensembl
• Aliases: FPN1, HFE4, IREG1, MST079, MSTP079, MTP1, SLC11A3
• Gene name: solute carrier family 40 member 1
• Alternate names: solute carrier family 40 member 1, 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,
• Gene location: 2q32.2 (189580810: 189560589)     Exons: 9     NC_000002.12
• Gene summary(Entrez): 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]

Protein Summary

• Protein general information: Q9NP59  
  • Name: Solute carrier family 40 member 1 (Ferroportin 1) (Iron regulated transporter 1)
  • Length: 571  
  • Mass: 62542
  • Tissue specificity: Detected in erythrocytes (at protein level). Expressed in placenta, intestine, muscle and spleen. {ECO
• Sequence:

  MTRAGDHNRQRGCCGSLADYLTSAKFLLYLGHSLSTWGDRMWHFAVSVFLVELYGNSLLLTAVYGLVVAGSVLVL
  GAIIGDWVDKNARLKVAQTSLVVQNVSVILCGIILMMVFLHKHELLTMYHGWVLTSCYILIITIANIANLASTAT
  AITIQRDWIVVVAGEDRSKLANMNATIRRIDQLTNILAPMAVGQIMTFGSPVIGCGFISGWNLVSMCVEYVLLWK
  VYQKTPALAVKAGLKEEETELKQLNLHKDTEPKPLEGTHLMGVKDSNIHELEHEQEPTCASQMAEPFRTFRDGWV
  SYYNQPVFLAGMGLAFLYMTVLGFDCITTGYAYTQGLSGSILSILMGASAITGIMGTVAFTWLRRKCGLVRTGLI
  SGLAQLSCLILCVISVFMPGSPLDLSVSPFEDIRSRFIQGESITPTKIPEITTEIYMSNGSNSANIVPETSPESV
  PIISVSLLFAGVIAARIGLWSFDLTVTQLLQENVIESERGIINGVQNSMNYLLDLLHFIMVILAPNPEAFGLLVL
  ISVSFVAMGHIMYFRFAQNTLGNKLFACGPDAKEVRKENQANTSVV

• Structural information:
  • Interpro: IPR009716  IPR036259  
  • STRING: ENSP00000261024
• Other Databases: GeneCards:  SLC40A1  Malacards:  SLC40A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903988	iron ion export across plasma membrane	ISS	biological process
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0017046	peptide hormone binding	IBA	molecular function
GO:0005381	iron ion transmembrane transporter activity	IBA	molecular function
GO:0034755	iron ion transmembrane transport	IBA	biological process
GO:0055072	iron ion homeostasis	IBA	biological process
GO:0005381	iron ion transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034755	iron ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0017046	peptide hormone binding	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0006826	iron ion transport	IEA	biological process
GO:0003158	endothelium development	IEA	biological process
GO:0002260	lymphocyte homeostasis	IEA	biological process
GO:1903988	iron ion export across plasma membrane	IEA	biological process
GO:0060586	multicellular organismal iron ion homeostasis	IEA	biological process
GO:0060345	spleen trabecula formation	IEA	biological process
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0034755	iron ion transmembrane transport	IEA	biological process
GO:0034395	regulation of transcription from RNA polymerase II promoter in response to iron	IEA	biological process
GO:0015093	ferrous iron transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005381	iron ion transmembrane transporter activity	IEA	molecular function
GO:0060586	multicellular organismal iron ion homeostasis	ISS	biological process
GO:1903988	iron ion export across plasma membrane	ISS	biological process
GO:0015093	ferrous iron transmembrane transporter activity	ISS	molecular function
GO:0005381	iron ion transmembrane transporter activity	ISS	molecular function
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0005381	iron ion transmembrane transporter activity	IMP	molecular function
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0005887	integral component of plasma membrane	IC	cellular component
GO:0034755	iron ion transmembrane transport	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0072511	divalent inorganic cation transport	IEA	biological process
GO:0072511	divalent inorganic cation transport	IEA	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:1903988	iron ion export across plasma membrane	ISS	biological process
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0017046	peptide hormone binding	IBA	molecular function
GO:0005381	iron ion transmembrane transporter activity	IBA	molecular function
GO:0034755	iron ion transmembrane transport	IBA	biological process
GO:0055072	iron ion homeostasis	IBA	biological process
GO:0005381	iron ion transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034755	iron ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0017046	peptide hormone binding	IEA	molecular function
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0006826	iron ion transport	IEA	biological process
GO:0003158	endothelium development	IEA	biological process
GO:0002260	lymphocyte homeostasis	IEA	biological process
GO:1903988	iron ion export across plasma membrane	IEA	biological process
GO:0060586	multicellular organismal iron ion homeostasis	IEA	biological process
GO:0060345	spleen trabecula formation	IEA	biological process
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0034755	iron ion transmembrane transport	IEA	biological process
GO:0034395	regulation of transcription from RNA polymerase II promoter in response to iron	IEA	biological process
GO:0015093	ferrous iron transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005381	iron ion transmembrane transporter activity	IEA	molecular function
GO:0060586	multicellular organismal iron ion homeostasis	ISS	biological process
GO:1903988	iron ion export across plasma membrane	ISS	biological process
GO:0015093	ferrous iron transmembrane transporter activity	ISS	molecular function
GO:0005381	iron ion transmembrane transporter activity	ISS	molecular function
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0005381	iron ion transmembrane transporter activity	IMP	molecular function
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0005887	integral component of plasma membrane	IC	cellular component
GO:0034755	iron ion transmembrane transport	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0072511	divalent inorganic cation transport	IEA	biological process
GO:0072511	divalent inorganic cation transport	IEA	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04978	Mineral absorption
hsa04216	Ferroptosis

Diseases

Associated diseases	References
Hemochromatosis	KEGG:H00211
Hemochromatosis	KEGG:H00211
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881