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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 i... See more...
Aliases for SLC46A1 Gene
Aliases for SLC46A1 Gene
External Ids for SLC46A1 Gene
- HGNC: 30521
- NCBI Entrez Gene: 113235
- Ensembl: ENSG00000076351
- OMIM®: 611672
- UniProtKB/Swiss-Prot: Q96NT5
Previous GeneCards Identifiers for SLC46A1 Gene
- GC17M023753
- GC17M026721
- GC17M022930
- GC17M028397
- GC17M028477
- GC17M029280
- GC17M029380
- GC17M029402
- GC17M029697
- GC17M028560
- GC17M028626
- GC17M028711
- GC17M028807
- GC17M028912
- GC17M029005
- GC17M029107
- GC17M029191
- GC17M029956
- GC17M030251
Summaries 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 Vitamin Metabolic Disorder. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity and heme transporter activity. An important paralog of this gene is SLC46A3.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for SLC46A1 Gene
- HGNC (30521)
- NCBI Entrez Gene (113235)
- Ensembl (ENSG00000076351)
- OMIM® (611672)
- UniProtKB/Swiss-Prot (Q96NT5)
- Open Targets Platform(ENSG00000076351)
- Monarch Initiative
- Alliance of Genome Resources
- Search for SLC46A1 at DataMed
- Search for SLC46A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC46A1 Gene
Genomics for SLC46A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLC46A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLC46A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC46A1
- Top Transcription factor binding sites by QIAGEN in the SLC46A1 gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- PPAR-gamma2
Genomic Locations for SLC46A1 Gene
Latest Assembly
- chr17:28,394,642-28,407,197
- (GRCh38/hg38)
- Size:
- 12,556 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:26,721,661-26,733,230
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 11,570 bases
- Orientation:
- Minus strand
Genomic View for SLC46A1 Gene
Genes around SLC46A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q11.2 by HGNC
- 17q11.2 by Entrez Gene
- 17q11.2 by Ensembl
SLC46A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q1HE20
- Q86T92
- Q8TEG3
- Q96FL0
Protein attributes for SLC46A1 Gene
- Size:
- 459 amino acids
- Molecular mass:
- 49771 Da
- Quaternary structure:
-
- Monomer.
- Miscellaneous:
-
- [Isoform 2]: Inactive isoform which results in impaired folate absorption, giving rise to hereditary folate malabsorption (HFM).
Protein Expression for SLC46A1 Gene
Post-translational modifications for SLC46A1 Gene
Other Protein References for SLC46A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences SLC46A1 / HCP1 Antibody (LS-B3827) and SLC46A1 / HCP1 Antibody (LS-B14472)
-
Custom Antibody ServicesOriGene Antibodies for SLC46A1
- Novus Biologicals Antibodies for SLC46A1
- Invitrogen Antibodies for SLC46A1 (AFLGC-SLC46A1)
-
Custom Antibody ServicesProSci Antibodies for SLC46A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC46A1
Protein products for research
-
OriGene Purified Proteins for SLC46A1
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC46A1
- Origene Custom Protein Services for SLC46A1
- Novus Biologicals proteins for SLC46A1
Assay products for research
No data available for DME Specific Peptides for SLC46A1 Gene
Domains & Families for SLC46A1 Gene
Gene Families for SLC46A1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for SLC46A1 Gene
- InterPro:
Suggested Antigen Peptide Sequences for SLC46A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Solute carrier family 46 member 1 (PCFT_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96NT5- Family:
-
- Belongs to the major facilitator superfamily. SLC46A family.
Function for SLC46A1 Gene
Molecular function for SLC46A1 Gene
- 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.
- 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};
Phenotypes From GWAS Catalog for SLC46A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005542 | folic acid binding | IEA | -- |
| GO:0008517 | folic acid transmembrane transporter activity | TAS | -- |
| GO:0015078 | proton transmembrane transporter activity | IDA | 17129779 |
| GO:0015232 | heme transporter activity | TAS | -- |
| GO:0015350 | methotrexate transmembrane transporter activity | IC | 19762432 |
Phenotypes for SLC46A1 Gene
- MGI mutant phenotypes for SLC46A1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SLC46A1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased hepcidin::fluc mRNA expression
- Decreased p24 protein expression
- Increased homologous recombination repair frequency
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased lymphocytic choriomeningitis virus (LCMV) infection
Animal Models for SLC46A1 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for SLC46A1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SLC46A1 - Starting at $85 >
- * SLC46A1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SLC46A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC46A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC46A1
miRNA for SLC46A1 Gene
- miRTarBase miRNAs that target SLC46A1
-
- hsa-miR-18a-3p (MIRT040975)
- hsa-miR-629-3p (MIRT496633)
- hsa-miR-6867-3p (MIRT496634)
- hsa-miR-4713-5p (MIRT496635)
- hsa-miR-3682-5p (MIRT496636)
- hsa-miR-138-1-3p (MIRT496637)
- hsa-miR-6793-3p (MIRT496638)
- hsa-miR-6814-5p (MIRT496639)
- hsa-miR-6895-5p (MIRT496640)
- hsa-miR-4511 (MIRT496641)
- hsa-miR-8081 (MIRT503663)
- hsa-miR-527 (MIRT503665)
- hsa-miR-518a-5p (MIRT503666)
- hsa-miR-6790-5p (MIRT503667)
- hsa-miR-4658 (MIRT503668)
- hsa-miR-4758-5p (MIRT503669)
- hsa-miR-1238-5p (MIRT503670)
- hsa-miR-580-3p (MIRT503671)
- hsa-miR-6844 (MIRT503672)
- hsa-miR-19b-3p (MIRT503673)
- hsa-miR-19a-3p (MIRT503674)
- hsa-miR-1909-5p (MIRT503675)
- hsa-miR-454-3p (MIRT503676)
- hsa-miR-4295 (MIRT503677)
- hsa-miR-3666 (MIRT503678)
- hsa-miR-301b-3p (MIRT503679)
- hsa-miR-301a-3p (MIRT503680)
- hsa-miR-130b-3p (MIRT503681)
- hsa-miR-130a-3p (MIRT503682)
- hsa-miR-449b-3p (MIRT503683)
- hsa-miR-561-3p (MIRT503684)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC46A1
- Browse OriGene Inhibitory RNA Products For SLC46A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC46A1
Clone products for research
- Applied Biological Materials (abm): Clones for SLC46A1 - Starting at $45 >
- * SLC46A1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SLC46A1
- Addgene plasmids for SLC46A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC46A1
Cell Lines for research
-
Horizon Cell Lines for SLC46A1
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| endosome | 2 |
| lysosome | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0009986 | cell surface | HDA | 19581412 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for SLC46A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Antifolate resistance | ||
| 3 | Mineral absorption | ||
| 4 | Vitamin digestion and absorption | ||
| 5 | Methotrexate Pathway, Pharmacokinetics | ||
Pathways by source for SLC46A1 Gene
1 BioSystems pathway for SLC46A1 Gene
6 Reactome pathways for SLC46A1 Gene
1 PharmGKB pathway for SLC46A1 Gene
3 KEGG pathways for SLC46A1 Gene
Interacting Proteins for SLC46A1 Gene
Selected Interacting proteins:
Q96NT5-PCFT_HUMAN
ENSP00000480703
for SLC46A1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for SLC46A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006879 | cellular iron ion homeostasis | TAS | -- |
| GO:0015884 | folic acid transport | IMP | 17129779 |
| GO:0015886 | heme transport | IEA | -- |
| GO:0046655 | folic acid metabolic process | TAS | -- |
| GO:0051958 | methotrexate transport | IMP | 17129779 |
Drugs & Compounds for SLC46A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Sulfasalazine | Approved | Pharma | Inhibitor, Inhibition, Transporter | NF-κB activation inhibitor | 89 | |
| Methotrexate | Approved | Pharma | Transporter, substrate, inhibitor | Folate antagonist,inhibits DFHR | 1884 | |
| Folic acid | Approved, Vet_approved | Nutra | Transporter, substrate | 5007 | ||
| Indomethacin | Approved, Investigational | Pharma | Inhibitor, Inhibition | Cox inhibitor | 154 | |
| Levomefolic acid | Approved, Investigational | Pharma | Transporter, substrate | 0 |
Transcripts for SLC46A1 Gene
mRNA/cDNA for SLC46A1 Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000578217 596 nts (view in UCSC)
- ENST00000581516 844 nts (view in UCSC)
- ENST00000582590 1435 nts (view in UCSC)
- ENST00000582735 574 nts (view in UCSC)
- ENST00000584426 564 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SLC46A1 - Starting at $85 >
- * SLC46A1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SLC46A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC46A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC46A1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC46A1
- Browse OriGene Inhibitory RNA Products For SLC46A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC46A1
Clone products for research
- Applied Biological Materials (abm): Clones for SLC46A1 - Starting at $45 >
- * SLC46A1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SLC46A1
- Addgene plasmids for SLC46A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC46A1
Relevant External Links for SLC46A1 Gene
- GeneLoc Exon Structure for
- SLC46A1
Expression 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).
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, MaxQB, and MOPED for SLC46A1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC46A1
SOURCE GeneReport for Unigene cluster for SLC46A1 Gene:
Hs.446689mRNA 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.
Evidence on tissue expression from TISSUES for SLC46A1 Gene
- Nervous system(4.7)
- Liver(4.5)
- Spleen(4.4)
- Eye(4.3)
- Intestine(2.5)
- Kidney(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC46A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- face
- head
- lip
- mouth
- tongue
Thorax:
- diaphragm
- esophagus
- lung
Abdomen:
- intestine
- large intestine
- small intestine
- stomach
Limb:
- arm
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for SLC46A1
-
OriGene qPCR primer pairs and template standards for SLC46A1
Gene Expression Assays for research
Orthologs for SLC46A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC46A1 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC46A1 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc46a1 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | SLC46A1 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc46a1 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC46A1 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC46A1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC46A1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC46A1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc46a1 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15282 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc46a1 29 30 |
|
OneToOne | |
| zgc56400 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG30344 30 |
|
ManyToMany | |
| CG30345 30 |
|
ManyToMany | |||
| CG8046 30 |
|
ManyToMany | |||
| CG42514 30 |
|
ManyToMany | |||
| CG15553 30 |
|
ManyToMany | |||
| CG8008 30 |
|
ManyToMany | |||
| CG15890 30 |
|
ManyToMany | |||
| CG31321 30 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | Y4C6B.5 29 30 |
|
ManyToMany | |
| Y43F8A.5 30 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToOne |
- Species where no ortholog for SLC46A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC46A1: view image
- Alliance of Genome Resources:
- Additional Orthologs for SLC46A1
Paralogs for SLC46A1 Gene
Variants for SLC46A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC46A1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1031063 | Uncertain Significance: Congenital defect of folate absorption | 28,404,636(-) |
A/C NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser) |
MISSENSE | |
| 871001 | Uncertain Significance: not provided | 28,405,132(-) |
C/G NM_080669.6(SLC46A1):c.565G>C (p.Gly189Arg) |
MISSENSE | |
| 888567 | Benign: Congenital defect of folate absorption | 28,395,072(-) |
G/A NM_080669.6(SLC46A1):c.*4584C>T |
THREE_PRIME_UTR_VARIANT,INTRON | |
| 888568 | Uncertain Significance: Congenital defect of folate absorption | 28,395,238(-) |
G/A NM_080669.6(SLC46A1):c.*4418C>T |
THREE_PRIME_UTR_VARIANT,INTRON | |
| 888569 | Uncertain Significance: Congenital defect of folate absorption | 28,395,472(-) |
A/C NM_080669.6(SLC46A1):c.*4184T>G |
THREE_PRIME_UTR_VARIANT,INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1056839 | CNV | gain | 25217958 |
| nsv1062056 | CNV | gain | 25217958 |
| nsv574653 | CNV | gain | 21841781 |
Gene Damage Index Score:
1.55;
30.09% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC46A1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC46A1 Gene
Disorders for SLC46A1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| folate malabsorption, hereditary |
|
|
| vitamin metabolic disorder |
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| folic acid deficiency anemia |
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| thiamine metabolism dysfunction syndrome 2 |
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| neural tube defects |
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Search SLC46A1 in MalaCards
View complete list of genes associated with diseases
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 variants affecting the gene represented in this entry.
Additional Disease Information for SLC46A1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
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No data available for Genatlas for SLC46A1 Gene
Publications for SLC46A1 Gene
- Identification of an intestinal heme transporter. (PMID: 16143108) Shayeghi M … McKie AT (Cell 2005) 2 3 4 22
- Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. (PMID: 21333572) Shin DS … Goldman ID (Molecular genetics and metabolism 2011) 3 4 72
- Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. (PMID: 19176287) Wang X … Eckfeldt JH (Blood cells, molecules & diseases 2009) 3 22 40
- Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium. (PMID: 17335806) Sharma S … Della NG (Experimental cell research 2007) 3 4 22
- 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 (The Journal of pharmacology and experimental therapeutics 2007) 3 4 25
ExternalLinks
Products for SLC46A1 Gene
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Sources for SLC46A1 Gene
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