Homo sapiens Gene: SLC46A1

Summary
InnateDB Gene IDBG-36627.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol SLC46A1
Gene Name solute carrier family 46 (folate transporter), member 1
Synonyms HCP1; PCFT
Species Homo sapiens
Ensembl Gene ENSG00000076351
Encoded Proteins
IDBP-36631 solute carrier family 46 (folate transporter), member 1
IDBP-373486 solute carrier family 46 (folate transporter), member 1
IDBP-760098
IDBP-763530
IDBP-762785
IDBP-762516
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: 26721661-26734215
Strand Reverse strand
Band q11.2
Transcripts
ENST00000321666  ENSP00000318828
ENST00000440501  ENSP00000395653
ENST00000581516  ENSP00000462942
ENST00000582735  ENSP00000463339
ENST00000584729 
ENST00000582590 
ENST00000582345 
ENST00000584995  ENSP00000464190
ENST00000583295 
ENST00000578217 
ENST00000584426  ENSP00000467416
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein‑Protein  1
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0005215 transporter activity
GO:0005542 folic acid binding
GO:0008517 folic acid transporter activity
GO:0015232 heme 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:0055085 transmembrane transport
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016021 integral to membrane
GO:0016324 apical plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000020829 Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000002817 Not yet available Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
REACT_25060 Iron uptake and transport
REACT_11167 Metabolism of folate and pterines
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q96NT5 
TrEMBL C9JSZ2 J3KTE6 J3QRF7
UniProt Splice Variant
Entrez Gene 113235 
UniGene Hs.446689
RefSeq NM_001242366  NM_080669 
HUGO 30521 
OMIM 611672
CCDS
HPRD 14715
IMGT
EMBL AC002094 AC015917 AK054669 AK074161 AL832613 BC010691 DQ496103
GenPept AAH10691  ABF47092  BAB70789  BAB84987  CAD89945 
ImmGen SLC46A1 (murine) 
RNA Seq Atlas 113235