Bos taurus Gene: SLC46A1
Summary
InnateDB Gene IDBG-631639.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC46A1
Gene Name Proton-coupled folate transporter
Synonyms TRPE
Species Bos taurus
Ensembl Gene ENSBTAG00000002817
Encoded Proteins
Proton-coupled folate transporter
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000076351:
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 19:20442061-20449646
Strand Reverse strand
Band
Transcripts
ENSBTAT00000035283 ENSBTAP00000035161
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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
Biological Process
GO:0006810 transport
GO:0015884 folic acid transport
GO:0015886 heme transport
GO:0055085 transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Metabolism of folate and pterines pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in cobalamin (B12) metabolism pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defects in vitamin and cofactor metabolism pathway
Defects in biotin (Btn) metabolism pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Iron uptake and transport pathway
Transmembrane transport of small molecules pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective BTD causes biotidinase deficiency pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CD320 causes methylmalonic aciduria pathway
Metabolism of water-soluble vitamins and cofactors pathway
Metabolism of vitamins and cofactors pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Disease pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Iron uptake and transport pathway
Metabolism of folate and pterines pathway
Transmembrane transport of small molecules 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
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
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Disease pathway
Metabolism pathway
Iron uptake and transport pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective GIF causes intrinsic factor deficiency pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective CD320 causes methylmalonic aciduria pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Transmembrane transport of small molecules pathway
Metabolism of vitamins and cofactors pathway
Metabolism of folate and pterines pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defects in vitamin and cofactor metabolism pathway
Defects in cobalamin (B12) metabolism pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Defective HLCS causes multiple carboxylase deficiency pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q05B81
TrEMBL
UniProt Splice Variant
Entrez Gene 511097
UniGene Bt.66434 Bt.7353
RefSeq NM_001079585
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL AY999968 BC122640 BT029834
GenPept AAI22641 AAY45892 ABM06094
RNA Seq Atlas 511097