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Aliases for SLC46A1 Gene

Aliases for SLC46A1 Gene

  • Solute Carrier Family 46 Member 1 2 3 4
  • Solute Carrier Family 46 (Folate Transporter), Member 1 2 3 5
  • Heme Carrier Protein 1 2 3 4
  • HCP1 3 4
  • PCFT 3 4
  • G21 3 4
  • Solute Carrier Family 46, Member 1 2
  • Proton-Coupled Folate Transporter 2
  • PCFT/HCP1 4

External Ids for SLC46A1 Gene

Previous GeneCards Identifiers for SLC46A1 Gene

  • GC17M023753
  • GC17M026721
  • GC17M022930
  • GC17M028397
  • GC17M028477

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 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 Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transmembrane transporter activity and heme 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

Promoters for SLC46A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC46A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC46A1 Gene

Chromosome:
17
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

Genes around SLC46A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC46A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

  • Ubiquitination at Lys 262
  • Glycosylation at Asn 58 and Asn 68
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC46A1 Gene

Antibody Products

No data available for DME Specific Peptides for SLC46A1 Gene

Domains & Families 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 :
  • Belongs to the major facilitator superfamily. SLC46A family.
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 --
genes like me logo Genes that share ontologies with SLC46A1: view
genes like me logo Genes that share phenotypes with SLC46A1: view

Human Phenotype Ontology for SLC46A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC46A1 Gene

MGI Knock Outs for SLC46A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC46A1

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
endosome 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for SLC46A1 Gene

Pathways & Interactions for SLC46A1 Gene

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:0006879 cellular iron ion homeostasis TAS --
GO:0015886 heme transport IEA --
GO:0046655 folic acid metabolic process TAS --
GO:1904447 folic acid import into cell IDA 19762432
genes like me logo Genes that share ontologies with SLC46A1: view

No data available for SIGNOR curated interactions for SLC46A1 Gene

Drugs & Compounds for SLC46A1 Gene

(11) Drugs for SLC46A1 Gene - From: IUPHAR, DGIdb, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sulfasalazine Approved Pharma Inhibition, Inhibitor, inhibitor, Transporter NF-κB activation inhibitor 56
Methotrexate Approved Pharma Transporter, substrate, inhibitor Folate antagonist,inhibits DFHR, Cytotoxic agent 1444
Folic Acid Approved Nutra Transporter, substrate 2924
Indomethacin Approved, Investigational Pharma Partial agonist, Agonist, inhibitor Cox inhibitor 106
Aminopterin Investigational, Withdrawn Pharma Transporter 28

(1) Additional Compounds for SLC46A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (x6.7) and Liver (x5.3).

Protein differential expression in normal tissues from HIPED for SLC46A1 Gene

This gene is overexpressed in Fetal gut (15.0), Liver (8.2), Spinal cord (7.6), Placenta (6.6), and Rectum (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC46A1: view

Protein tissue co-expression partners for SLC46A1 Gene

Primer Products

In Situ Assay Products

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 36
  • 82 (a)
OneToOne
SLC46A1 35
  • 84.31 (n)
  • 81.92 (a)
dog
(Canis familiaris)
Mammalia SLC46A1 35
  • 87.51 (n)
  • 87.58 (a)
SLC46A1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc46a1 36
  • 87 (a)
OneToOne
Slc46a1 16
Slc46a1 35
  • 83.95 (n)
  • 87.15 (a)
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 36
  • 56 (a)
OneToOne
SLC46A1 35
  • 64.75 (n)
  • 58.72 (a)
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 36
  • 51 (a)
OneToOne
slc46a1 35
  • 59.7 (n)
  • 55.28 (a)
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 Y4C6B.5 35
  • 39.04 (n)
  • 26.74 (a)
Y43F8A.5 36
  • 18 (a)
ManyToMany
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

(2) 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
VAR_032825 Hereditary folate malabsorption (HFM), Hereditary folate malabsorption (HFM)
VAR_032826 Hereditary folate malabsorption (HFM)
VAR_032827 Hereditary folate malabsorption (HFM)
rs80338773 Hereditary folate malabsorption (HFM) 28,402,277(-) TCATC(C/T)GGGCT intron-variant, reference, missense
VAR_032829 Hereditary folate malabsorption (HFM)

Variation tolerance for SLC46A1 Gene

Gene Damage Index Score: 1.55; 30.09% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(7) MalaCards diseases for SLC46A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
folate malabsorption, hereditary
  • hereditary folate malabsorption
folic acid deficiency anemia
  • folate deficiency anemia nos
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
hereditary persistence of alpha-fetoprotein
  • alpha-fetoprotein, hereditary persistence
- elite association - COSMIC cancer census association via MalaCards

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

Genetic Association Database (GAD)
SLC46A1
Human Genome Epidemiology (HuGE) Navigator
SLC46A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC46A1
genes like me logo Genes that share disorders with SLC46A1: view

No data available for Genatlas for SLC46A1 Gene

Publications for SLC46A1 Gene

  1. Identification of an intestinal heme transporter. (PMID: 16143108) Shayeghi M. … McKie A.T. (Cell 2005) 2 3 4 23 67
  2. 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 25 26
  3. 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
  4. 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 23
  5. Effect of folate oversupplementation on folate uptake by human intestinal and renal epithelial cells. (PMID: 17616776) Ashokkumar B. … Said H.M. (Am. J. Clin. Nutr. 2007) 25 26

Products for SLC46A1 Gene

Sources for SLC46A1 Gene

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