InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SLC46A1

Summary

InnateDB Gene

IDBG-36627.6

Last Modified

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

Gene Symbol

SLC46A1

Gene Name

solute carrier family 46 (folate transporter), member 1

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000076351

Encoded Proteins

IDBP-760098

IDBP-763530

IDBP-762785

IDBP-762516

IDBP-810379

solute carrier family 46 (folate transporter), member 1

IDBP-810383

solute carrier family 46 (folate transporter), member 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption (HFM) disease. HFM is characterized by folate deficiency due to reduced intestinal folate absorption and subsequent anemia, hypoimmunoglobulinemia, and recurrent infections. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:28394756-28407197

Strand

Reverse strand

Band

q11.2

Transcripts

ENST00000581516	ENSP00000462942
ENST00000582735	ENSP00000463339
ENST00000582590
ENST00000584995	ENSP00000464190
ENST00000578217
ENST00000584426	ENSP00000467416
ENST00000612814	ENSP00000480703
ENST00000618626	ENSP00000483652
ENST00000619923

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

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

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005542	folic acid binding
GO:0008517	folic acid transporter activity
GO:0015232	heme transporter activity
GO:0015350	methotrexate transporter activity
GO:0022857	transmembrane transporter activity

Biological Process

GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006879	cellular iron ion homeostasis
GO:0015884	folic acid transport
GO:0015886	heme transport
GO:0044281	small molecule metabolic process
GO:0046655	folic acid metabolic process
GO:0051958	methotrexate transport
GO:0055085	transmembrane transport