Version 5.4
Mus musculus Gene: Slc46a1
Summary
InnateDB Gene IDBG-202851.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Slc46a1
Gene Name solute carrier family 46, member 1
Synonyms 1110002C08Rik; D11Ertd18e; HCP1; Pcft
Species Mus musculus
Ensembl Gene ENSMUSG00000020829
Encoded Proteins
IDBP-202853
solute carrier family 46, member 1
IDBP-541352
solute carrier family 46, member 1
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 11:78465697-78472059
Strand Forward strand
Band B5
Transcripts
ENSMUST00000001126 ENSMUSP00000001126
ENSMUST00000146431 ENSMUSP00000119800
ENSMUST00000180786
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005542 folic acid binding
GO:0008517 folic acid transporter activity
GO:0015232 heme transporter activity
GO:0015350 methotrexate transporter activity
Biological Process
GO:0015884 folic acid transport
GO:0015886 heme transport
GO:0051958 methotrexate transport
GO:0055085 transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0031526 brush border membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000076351
View Gene Order
ENSBTAG00000002817
Not yet available
Pathways
NETPATH
REACTOME
REACT_189088
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_189085
Disease pathway
REACT_188937
Metabolism pathway
REACT_205755
Iron uptake and transport pathway
REACT_189089
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_189086
Defective GIF causes intrinsic factor deficiency pathway
REACT_189075
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_189076
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_189078
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_189098
Defective CD320 causes methylmalonic aciduria pathway
REACT_189097
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_189096
Defects in biotin (Btn) metabolism pathway
REACT_189095
Defective BTD causes biotidinase deficiency pathway
REACT_189093
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_189092
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_189091
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_189090
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_253400
Transmembrane transport of small molecules pathway
REACT_254651
Metabolism of vitamins and cofactors pathway
REACT_220137
Metabolism of folate and pterines pathway
REACT_238663
Metabolism of water-soluble vitamins and cofactors pathway
REACT_189110
Defects in vitamin and cofactor metabolism pathway
REACT_189116
Defects in cobalamin (B12) metabolism pathway
REACT_189114
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_189100
Defective HLCS causes multiple carboxylase deficiency pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_25060
Iron uptake and transport pathway
REACT_11167
Metabolism of folate and pterines pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_169312
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_169313
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_169316
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_169120
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_11238
Metabolism of water-soluble vitamins and cofactors pathway
REACT_169280
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_169149
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_169363
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_169178
Defective CD320 causes methylmalonic aciduria pathway
REACT_169429
Defects in cobalamin (B12) metabolism pathway
REACT_169169
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_169238
Defects in biotin (Btn) metabolism pathway
REACT_169403
Defective BTD causes biotidinase deficiency pathway
REACT_169415
Defective GIF causes intrinsic factor deficiency pathway
REACT_169385
Defects in vitamin and cofactor metabolism pathway
REACT_169132
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_169256
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_169439
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_111217
Metabolism pathway
REACT_169318
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_116125
Disease pathway
REACT_11193
Metabolism of vitamins and cofactors pathway
REACT_222884
Metabolism of folate and pterines pathway
REACT_208874
Defective GIF causes intrinsic factor deficiency pathway
REACT_223924
Defects in cobalamin (B12) metabolism pathway
REACT_223300
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_218264
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_227887
Defects in vitamin and cofactor metabolism pathway
REACT_217107
Defects in biotin (Btn) metabolism pathway
REACT_202103
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_204342
Iron uptake and transport pathway
REACT_223103
Transmembrane transport of small molecules pathway
REACT_210590
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_224094
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_221779
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_210941
Defective BTD causes biotidinase deficiency pathway
REACT_222920
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_216256
Defective CD320 causes methylmalonic aciduria pathway
REACT_218209
Metabolism of water-soluble vitamins and cofactors pathway
REACT_209855
Metabolism of vitamins and cofactors pathway
REACT_212778
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_219139
Metabolism pathway
REACT_225745
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_223191
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_207087
Disease pathway
REACT_212600
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_221291
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL F6QD87
UniProt Splice Variant
Entrez Gene 52466
UniGene Mm.131618 Mm.448563
RefSeq NM_026740
OMIM
CCDS CCDS25104
HPRD
IMGT
MGI ID MGI:1098733
MGI Symbol Slc46a1
EMBL AL591177 CH466556
GenPept EDL15572
RNA Seq Atlas 52466

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca