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
solute carrier family 46 (folate transporter), member 1
solute carrier family 46 (folate transporter), member 1
Protein Structure
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
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Iron uptake and transport pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Metabolism of folate and pterines pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q96NT5
TrEMBL A0A024QZ15 A0A024QZ44 C9JSZ2 J3KTE6 J3QRF7 K7EPJ7
UniProt Splice Variant
Entrez Gene 113235
UniGene Hs.446689
RefSeq NM_001242366 NM_080669
HUGO HGNC:30521
OMIM 611672
CCDS CCDS74019 CCDS74020
HPRD 14715
IMGT
EMBL AC002094 AC015917 AK054669 AK074161 AL832613 BC010691 CH471159 DQ496103
GenPept AAH10691 ABF47092 BAB70789 BAB84987 CAD89945 EAW51085 EAW51086 EAW51087 EAW51089
ImmGen SLC46A1 (murine)
RNA Seq Atlas 113235