InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC40A1

Summary

InnateDB Protein

IDBP-77322.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC40A1

Protein Name

solute carrier family 40 (iron-regulated transporter), member 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000261024

InnateDB Gene

IDBG-77320 (SLC40A1)

Protein Structure

UniProt Annotation

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).

Subcellular Localization

Cell membrane {ECO:0000269PubMed:10882071, ECO:0000269PubMed:23219802}; Multi-pass membrane protein {ECO:0000269PubMed:10882071, ECO:0000269PubMed:23219802}. Note=Localized to the basolateral membrane of polarized epithelial cells.

Disease Associations

Hemochromatosis 4 (HFE4) [MIM:606069]: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO:0000269PubMed:10747949, ECO:0000269PubMed:11431687, ECO:0000269PubMed:11518736, ECO:0000269PubMed:12091366, ECO:0000269PubMed:12091367, ECO:0000269PubMed:12123233, ECO:0000269PubMed:12406098, ECO:0000269PubMed:12730114, ECO:0000269PubMed:12857562, ECO:0000269PubMed:12865285, ECO:0000269PubMed:15338274, ECO:0000269PubMed:15466004, ECO:0000269PubMed:16351644}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in erythrocytes (at protein level). Expressed in placenta, intestine, muscle and spleen. {ECO:0000269PubMed:10747949, ECO:0000269PubMed:23219802}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005381	iron ion transmembrane transporter activity
GO:0005515	protein binding

Biological Process

GO:0002260	lymphocyte homeostasis
GO:0003158	endothelium development
GO:0006826	iron ion transport
GO:0006879	cellular iron ion homeostasis
GO:0009653	anatomical structure morphogenesis
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:0048536	spleen development
GO:0055085	transmembrane transport
GO:0060345	spleen trabecula formation
GO:0060586	multicellular organismal iron ion homeostasis

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005771	multivesicular body
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0008021	synaptic vesicle
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane