Aliases for SLC46A1 Gene
Aliases for SLC46A1 Gene
External Ids for SLC46A1 Gene
- HGNC: 30521
- Entrez Gene: 113235
- Ensembl: ENSG00000076351
- OMIM: 611672
- UniProtKB: Q96NT5
Previous GeneCards Identifiers for SLC46A1 Gene
- GC17M023753
- GC17M026721
- GC17M022930
- GC17M028397
- GC17M028477
- GC17M028560
- GC17M028626
- GC17M028711
- GC17M028807
- GC17M028912
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 Folic Acid Deficiency Anemia. Among its related pathways are Metabolism and Antifolate resistance. 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 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
- Monarch Initiative
- Search for SLC46A1 at DataMed
- Search for SLC46A1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC46A1 Gene
Genomics for SLC46A1 Gene
GeneHancer (GH) Regulatory Elements for SLC46A1 Gene
Promoters and enhancers for SLC46A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SLC46A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SLC46A1 gene promoter:
Regulatory Element Products
Genomic Locations for SLC46A1 Gene
Genomic Locations for SLC46A1 Gene
- chr17:28,394,642-28,407,197
- (GRCh38/hg38)
- Size:
- 12,556 bases
- Orientation:
- Minus strand
- chr17:26,721,661-26,734,215
- (GRCh37/hg19)
Genomic View for SLC46A1 Gene
Genes around SLC46A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q11.2 by Ensembl
- 17q11.2 by Entrez Gene
- 17q11.2 by HGNC
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.
Protein Expression for SLC46A1 Gene
Post-translational modifications for SLC46A1 Gene
Other Protein References for SLC46A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SLC46A1
- Novus Biologicals Antibodies for SLC46A1
-
Abcam antibodies for SLC46A1
- Invitrogen Antibodies for SLC46A1
- GeneTex SLC46A1 antibody for SLC46A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC46A1
Protein Products
-
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
- Search GeneTex for Proteins for SLC46A1
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC46A1 Gene
- GenScript: Design optimal peptide antigens:
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 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.
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 | hydrogen ion 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 viability
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased p24 protein expression
- Decreased homologous recombination repair frequency
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased lymphocytic choriomeningitis virus (LCMV) infection
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC46A1
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC46A1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC46A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC46A1 gene
- Search ViGene Biosciences for SLC46A1
CRISPR Products
-
OriGene CRISPR knockouts for SLC46A1
- genomics-online: gRNA clones - Search results for 92 available SLC46A1 gene related products
- Overview of 92 available SLC46A1 gene related products
- Applied Biological Materials CRISPR for SLC46A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC46A1
- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for SLC46A1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SLC46A1
- Browse OriGene Inhibitory RNA Products For SLC46A1
- genomics-online: shRNA clones - Search results for 92 available SLC46A1 gene related products
- Overview of 92 available SLC46A1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC46A1 gene
Clone Products
- Sino Biological Human cDNA Clone for SLC46A1
- VectorBuilder custom plasmid, inducible vectors for SLC46A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC46A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SLC46A1
- Applied Biological Materials Clones for SLC46A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SLC46A1
-
ViGene Biosciences adenoviral particle packaged cDNA for SLC46A1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC46A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC46A1 gene
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 | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Plasma membrane (3)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0009986 | cell surface | IDA,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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| 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 | -- |
No data available for SIGNOR curated interactions for SLC46A1 Gene
Drugs & Compounds for SLC46A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Sulfasalazine | Approved | Pharma | Inhibition, Inhibitor, Transporter, inhibitor | NF-κB activation inhibitor | 63 | |
| Methotrexate | Approved | Pharma | Transporter, substrate, inhibitor | Folate antagonist,inhibits DFHR | 1603 | |
| Folic Acid | Approved, Vet_approved | Nutra | Transporter, substrate | 4610 | ||
| Indomethacin | Approved, Investigational | Pharma | Partial agonist, Agonist, inhibitor | Cox inhibitor | 119 | |
| Levomefolic acid | Approved, Investigational | Pharma | Transporter, substrate | Active form of folic acid | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Fe2+ |
|
15438-31-0 |
|
Transcripts for SLC46A1 Gene
mRNA/cDNA for SLC46A1 Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (89) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC46A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLC46A1
- genomics-online: gRNA clones - Search results for 92 available SLC46A1 gene related products
- Overview of 92 available SLC46A1 gene related products
- Applied Biological Materials CRISPR for SLC46A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC46A1
- GenScript: Design CRISPR guide RNA sequences for SLC46A1
miRNA Products
- Search ViGene Biosciences for SLC46A1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SLC46A1
- Browse OriGene Inhibitory RNA Products For SLC46A1
- genomics-online: shRNA clones - Search results for 92 available SLC46A1 gene related products
- Overview of 92 available SLC46A1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC46A1 gene
Clone Products
- Sino Biological Human cDNA Clone for SLC46A1
- VectorBuilder custom plasmid, inducible vectors for SLC46A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC46A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SLC46A1
- Applied Biological Materials Clones for SLC46A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of SLC46A1 Gene:
SLC46A1SOURCE 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(4.3)
- Eye(4.2)
- Spleen(4.2)
- Intestine(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
-
OriGene qPCR primer pairs for SLC46A1
Gene Expression Assay Products
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 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SLC46A1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc46a1 33 |
|
||
| cow (Bos Taurus) |
Mammalia | SLC46A1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc46a1 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC46A1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SLC46A1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC46A1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SLC46A1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc46a1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15282 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc46a1 33 34 |
|
||
| zgc56400 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG30344 34 |
|
ManyToMany | |
| CG30345 34 |
|
ManyToMany | |||
| CG8046 34 |
|
ManyToMany | |||
| CG15553 34 |
|
ManyToMany | |||
| CG42514 34 |
|
ManyToMany | |||
| CG8008 34 |
|
ManyToMany | |||
| CG15890 34 |
|
ManyToMany | |||
| CG31321 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | Y4C6B.5 33 34 |
|
||
| Y43F8A.5 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for SLC46A1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for SLC46A1 Gene
(2) SIMAP similar genes for SLC46A1 Gene using alignment to 6 proteins:
Variants for SLC46A1 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1009622508 | uncertain-significance, Congenital defect of folate absorption | 28,398,871(-) | A/C | 3_prime_UTR_variant | |
| rs1016211564 | uncertain-significance, Congenital defect of folate absorption | 28,399,379(-) | T/C/G | 3_prime_UTR_variant | |
| rs112801276 | uncertain-significance, Congenital defect of folate absorption | 28,398,964(-) | T/A | 3_prime_UTR_variant | |
| rs1128161 | benign, Congenital defect of folate absorption | 28,394,876(-) | G/A | 3_prime_UTR_variant | |
| rs1128162 | benign, Congenital defect of folate absorption | 28,394,772(-) | C/A | 3_prime_UTR_variant |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC46A1 Gene
Disorders for SLC46A1 Gene
(3) MalaCards diseases for SLC46A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and DISEASES
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| folate malabsorption, hereditary |
|
|
| folic acid deficiency anemia |
|
|
| thiamine metabolism dysfunction syndrome 2 |
|
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for SLC46A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
- 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 44 58
- 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 58
- 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 58
- Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. (PMID: 17129779) Qiu A … Goldman ID (Cell 2006) 2 3 4 58
Products for SLC46A1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for SLC46A1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SLC46A1
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC46A1
- Origene Custom Protein Services for SLC46A1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC46A1
- Browse OriGene Inhibitory RNA Products For SLC46A1
- OriGene qPCR primer pairs for SLC46A1
- OriGene CRISPR knockouts for SLC46A1
- OriGene ORF clones in human for SLC46A1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SLC46A1
- GenScript: Next-day shipping of latest version cDNA ORF clones for SLC46A1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for SLC46A1
- GenScript Custom Assay Services for SLC46A1
- GenScript Custom overexpressing Cell Line Services for SLC46A1
- GenScript: Design CRISPR guide RNA sequences for SLC46A1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SLC46A1
- Sino Biological Human cDNA Clone for SLC46A1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for SLC46A1
- Novus Biologicals proteins for SLC46A1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SLC46A1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Taconic Biosciences Mouse Models for SLC46A1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SLC46A1
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC46A1
- VectorBuilder custom plasmid, inducible vectors for SLC46A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC46A1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SLC46A1
- antibodies-online: Search results for 26 available SLC46A1 Antibodies ranked by validation data
- Compare Top SLC46A1 Antibodies
- antibodies-online: Search results for available SLC46A1 related products ranked by validation data
- antibodies-online: Search results for 3 available SLC46A1 Proteins ranked by validation data
- Compare Top SLC46A1 Proteins
- GeneTex SLC46A1 antibody for SLC46A1
- Search GeneTex for Proteins for SLC46A1
- ViGene Biosciences adenoviral particle packaged cDNA for SLC46A1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SLC46A1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SLC46A1 gene
- Search ViGene Biosciences for SLC46A1
- Santa Cruz Biotechnology (SCBT) Antibodies for SLC46A1
- Search Santa Cruz Biotechnology (SCBT) for SLC46A1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SLC46A1
- Horizon Cell Lines for SLC46A1
- genomics-online: cdna clones - Search results for 92 available SLC46A1 gene related products
- Overview of 92 available SLC46A1 gene related products
- orf clones - Search results for 92 available SLC46A1 gene related products
- Overview of 92 available SLC46A1 gene related products
- genomics-online: gRNA clones - Search results for 92 available SLC46A1 gene related products
- Overview of 92 available SLC46A1 gene related products
- genomics-online: primer clones - Search results for 92 available SLC46A1 gene related products
- Overview of 92 available SLC46A1 gene related products
- genomics-online: shRNA clones - Search results for 92 available SLC46A1 gene related products
- Overview of 92 available SLC46A1 gene related products
Sources for SLC46A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems