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Aliases for SLC46A1 Gene

Aliases for SLC46A1 Gene

  • Solute Carrier Family 46 (Folate Transporter), Member 1 2 3
  • Heme Carrier Protein 1 2 3 4
  • HCP1 3 4 6
  • PCFT 3 4 6
  • Proton-Coupled Folate Transporter 2 3
  • G21 3 4
  • Solute Carrier Family 46, Member 1 2
  • Solute Carrier Family 46 Member 1 4
  • PCFT/HCP1 4

External Ids for SLC46A1 Gene

Previous GeneCards Identifiers for SLC46A1 Gene

  • GC17M023753
  • GC17M026721
  • GC17M022930

Summaries for SLC46A1 Gene

Entrez Gene Summary for SLC46A1 Gene

  • 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 disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]

GeneCards Summary for SLC46A1 Gene

SLC46A1 (Solute Carrier Family 46 (Folate Transporter), Member 1) is a Protein Coding gene. Diseases associated with SLC46A1 include folate malabsorption, hereditary and folic acid deficiency anemia. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include folic acid binding and folic acid transporter activity. An important paralog of this gene is SLC46A2.

UniProtKB/Swiss-Prot for SLC46A1 Gene

  • Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme.

Gene Wiki entry for SLC46A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC46A1 Gene

Genomics for SLC46A1 Gene

Regulatory Elements for SLC46A1 Gene

Genomic Location for SLC46A1 Gene

Start:
28,394,642 bp from pter
End:
28,407,197 bp from pter
Size:
12,556 bases
Orientation:
Minus strand

Genomic View for SLC46A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC46A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC46A1 Gene

Proteins for SLC46A1 Gene

  • Protein details for SLC46A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NT5-PCFT_HUMAN
    Recommended name:
    Proton-coupled folate transporter
    Protein Accession:
    Q96NT5
    Secondary Accessions:
    • Q1HE20
    • Q86T92
    • Q8TEG3
    • Q96FL0

    Protein attributes for SLC46A1 Gene

    Size:
    459 amino acids
    Molecular mass:
    49771 Da
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for SLC46A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC46A1 Gene

Proteomics data for SLC46A1 Gene at MOPED

Post-translational modifications for SLC46A1 Gene

Other Protein References for SLC46A1 Gene

No data available for DME Specific Peptides for SLC46A1 Gene

Domains for SLC46A1 Gene

Gene Families for SLC46A1 Gene

Protein Domains for SLC46A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC46A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96NT5

UniProtKB/Swiss-Prot:

PCFT_HUMAN :
  • Q96NT5
Family:
  • Belongs to the major facilitator superfamily. SLC46A family.
genes like me logo Genes that share domains with SLC46A1: view

Function for SLC46A1 Gene

Molecular function for SLC46A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=1.3 uM for folic acid (at pH 5.5) {ECO:0000269 PubMed:17129779, ECO:0000269 PubMed:17475902}; KM=1.5 uM for folic acid (at pH 6.0) {ECO:0000269 PubMed:17129779, ECO:0000269 PubMed:17475902}; KM=2.7 uM for folic acid (at pH 6.5) {ECO:0000269 PubMed:17129779, ECO:0000269 PubMed:17475902}; KM=6.0 uM for folic acid (at pH 7.0) {ECO:0000269 PubMed:17129779, ECO:0000269 PubMed:17475902}; KM=56.2 uM for folic acid (at pH 7.5) {ECO:0000269 PubMed:17129779, ECO:0000269 PubMed:17475902}; pH dependence: Optimum pH is 4.0-5.5. Activity decreases above pH 5.5 and reaches negligible levels at neutral pH and above. {ECO:0000269 PubMed:17129779, ECO:0000269 PubMed:17475902};
UniProtKB/Swiss-Prot Function: Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme.

Gene Ontology (GO) - Molecular Function for SLC46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005542 folic acid binding IEA --
GO:0008517 folic acid transporter activity IDA 17129779
GO:0015232 heme transporter activity IEA --
GO:0015350 methotrexate transporter activity IEA --
GO:0022857 transmembrane transporter activity --
genes like me logo Genes that share ontologies with SLC46A1: view

Phenotypes for SLC46A1 Gene

MGI mutant phenotypes for SLC46A1:
inferred from 1 alleles
GenomeRNAi human phenotypes for SLC46A1:
genes like me logo Genes that share phenotypes with SLC46A1: view

miRNA for SLC46A1 Gene

miRTarBase miRNAs that target SLC46A1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC46A1 Gene

Localization for SLC46A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC46A1 Gene

Apical cell membrane; Multi-pass membrane protein. Cytoplasm. Note=Localizes to the apical membrane of intestinal cells in iron-deficient cells, while it resides in the cytoplasm in iron-replete cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC46A1 Gene COMPARTMENTS Subcellular localization image for SLC46A1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 19581412
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IDA 17475902
genes like me logo Genes that share ontologies with SLC46A1: view

Pathways for SLC46A1 Gene

SuperPathways for SLC46A1 Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Disease
3 Metabolism
4 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
5 Mineral absorption
genes like me logo Genes that share pathways with SLC46A1: view

Interacting Proteins for SLC46A1 Gene

Gene Ontology (GO) - Biological Process for SLC46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006879 cellular iron ion homeostasis TAS --
GO:0015884 folic acid transport IDA 17129779
GO:0015886 heme transport IEA --
genes like me logo Genes that share ontologies with SLC46A1: view

Compounds for SLC46A1 Gene

(2) HMDB Compounds for SLC46A1 Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
Iron
  • Armco iron
7439-89-6

(4) Drugbank Compounds for SLC46A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Aminopterin
  • 4-amino-4-deoxypteroylglutamate
54-62-6 transporter
Folic Acid
  • Folate
59-30-3 transporter substrate
Methotrexate
  • Amethopterin
59-05-2 transporter substrate inhibitor
Sulfasalazine
  • Sulfasalazin
599-79-1 transporter inhibitor

(4) IUPHAR Ligand for SLC46A1 Gene

Ligand Type Action Affinity Pubmed IDs
sulfasalazine Inhibitor Inhibition 4.2
indomethacin Inhibitor Inhibition 3.7
[3H]folic acid None None
[3H]methotrexate None None
genes like me logo Genes that share compounds with SLC46A1: view

Transcripts for SLC46A1 Gene

Unigene Clusters for SLC46A1 Gene

Solute carrier family 46 (folate transporter), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC46A1 Gene

No ASD Table

Relevant External Links for SLC46A1 Gene

GeneLoc Exon Structure for
SLC46A1
ECgene alternative splicing isoforms for
SLC46A1

Expression for SLC46A1 Gene

mRNA expression in normal human tissues for SLC46A1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC46A1 Gene

This gene is overexpressed in Adrenal Gland (6.7) and Liver (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC46A1 Gene

SOURCE GeneReport for Unigene cluster for SLC46A1 Gene Hs.446689

mRNA Expression by UniProt/SwissProt for SLC46A1 Gene

Q96NT5-PCFT_HUMAN
Tissue specificity: Expressed in kidney, liver, placenta, small intestine, spleen, retina and retinal pigment epithelium. Lower levels found in colon and testis. Very low levels in brain, lung, stomach, heart and muscle. In intestine, expressed in duodenum with lower levels in jejunum, ileum, cecum, rectum and segments of the colon.
genes like me logo Genes that share expressions with SLC46A1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLC46A1 Gene

Orthologs for SLC46A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC46A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC46A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC46A1 35
  • 84.31 (n)
  • 81.92 (a)
SLC46A1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC46A1 35
  • 87.51 (n)
  • 87.58 (a)
SLC46A1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc46a1 35
  • 83.95 (n)
  • 87.15 (a)
Slc46a1 16
Slc46a1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC46A1 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC46A1 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc46a1 35
  • 84.43 (n)
  • 87.34 (a)
chicken
(Gallus gallus)
Aves SLC46A1 35
  • 64.75 (n)
  • 58.72 (a)
SLC46A1 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC46A1 36
  • 48 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15282 35
tropical clawed frog
(Silurana tropicalis)
Amphibia slc46a1 35
  • 62.75 (n)
  • 57.43 (a)
zebrafish
(Danio rerio)
Actinopterygii slc46a1 35
  • 59.7 (n)
  • 55.28 (a)
slc46a1 36
  • 51 (a)
OneToOne
zgc56400 35
fruit fly
(Drosophila melanogaster)
Insecta CG15553 36
  • 17 (a)
ManyToMany
CG15890 36
  • 15 (a)
ManyToMany
CG30344 36
  • 20 (a)
ManyToMany
CG30345 36
  • 19 (a)
ManyToMany
CG31321 36
  • 13 (a)
ManyToMany
CG42514 36
  • 17 (a)
ManyToMany
CG8008 36
  • 17 (a)
ManyToMany
CG8046 36
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y43F8A.5 36
  • 18 (a)
ManyToMany
Y4C6B.5 35
  • 39.04 (n)
  • 26.74 (a)
Y4C6B.5 36
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToOne
Species with no ortholog for SLC46A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC46A1 Gene

ENSEMBL:
Gene Tree for SLC46A1 (if available)
TreeFam:
Gene Tree for SLC46A1 (if available)

Paralogs for SLC46A1 Gene

Paralogs for SLC46A1 Gene

Selected SIMAP similar genes for SLC46A1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SLC46A1: view

Variants for SLC46A1 Gene

Sequence variations from dbSNP and Humsavar for SLC46A1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs4795436 -- 28,402,410(+) CCCCA(C/T)GTGGG intron-variant
rs4795437 -- 28,403,663(+) TATTG(G/T)TGACT intron-variant
rs7212349 -- 28,406,680(+) ctggg(C/T)tggag upstream-variant-2KB
rs7225804 -- 28,406,685(+) ttgga(A/G)cacct upstream-variant-2KB
rs9905973 -- 28,408,124(+) GAGAG(A/G)CCAAG upstream-variant-2KB

Relevant External Links for SLC46A1 Gene

HapMap Linkage Disequilibrium report
SLC46A1
Human Gene Mutation Database (HGMD)
SLC46A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC46A1 Gene

Disorders for SLC46A1 Gene

(1) OMIM Diseases for SLC46A1 Gene (611672)

UniProtKB/Swiss-Prot

PCFT_HUMAN
  • Hereditary folate malabsorption (HFM) [MIM:229050]: Rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or mental retardation become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent. {ECO:0000269 PubMed:17129779, ECO:0000269 PubMed:17446347, ECO:0000269 PubMed:18559978, ECO:0000269 PubMed:20686069, ECO:0000269 PubMed:20805364, ECO:0000269 PubMed:21333572}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC46A1

GeneTests
SLC46A1
GeneReviews
SLC46A1
Genetic Association Database (GAD)
SLC46A1
Human Genome Epidemiology (HuGE) Navigator
SLC46A1
genes like me logo Genes that share disorders with SLC46A1: view

Publications for SLC46A1 Gene

  1. Identification of an intestinal heme transporter. (PMID: 16143108) Shayeghi M. … McKie A.T. (Cell 2005) 2 3 4 23
  2. Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium. (PMID: 17335806) Sharma S. … Della N.G. (Exp. Cell Res. 2007) 3 4 23
  3. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. (PMID: 17129779) Qiu A. … Goldman I.D. (Cell 2006) 2 3 4
  4. Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. (PMID: 19176287) Wang X. … Eckfeldt J.H. (Blood Cells Mol. Dis. 2009) 3 23 48
  5. Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter. (PMID: 17475902) Nakai Y. … Yuasa H. (J. Pharmacol. Exp. Ther. 2007) 3 4 25

Products for SLC46A1 Gene

Sources for SLC46A1 Gene

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