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Ask your administrator if you think this is wrong. ======= SLC46A1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: SLC46A1 * **<color #00a2e8>Official Name</color>**: solute carrier family 46 member 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=113235|113235]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q96NT5|Q96NT5]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SLC46A1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SLC46A1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611672|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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. {ECO:0000269|PubMed:17129779, ECO:0000269|PubMed:17156779, ECO:0000269|PubMed:17446347, ECO:0000269|PubMed:17475902}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |MFS 1| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |intestinal folate absorption| |methotrexate transport| |methotrexate transmembrane transporter activity| |folic acid transmembrane transporter activity| |folate import across plasma membrane| |folate transmembrane transport| |heme transporter activity| |heme transport| |folic acid transport| |proton transmembrane transporter activity| |iron coordination entity transport| |folic acid binding| |vitamin transmembrane transport| |folic acid metabolic process| |modified amino acid transport| |folic acid-containing compound metabolic process| |intestinal absorption| |pteridine-containing compound metabolic process| |vitamin transport| |cofactor transport| |brush border membrane| |cellular iron ion homeostasis| |drug transmembrane transport| |iron ion transport| |digestive system process| |dicarboxylic acid transport| |iron ion homeostasis| |water-soluble vitamin metabolic process| |import across plasma membrane| |dicarboxylic acid metabolic process| |cellular transition metal ion homeostasis| |digestion| |transition metal ion transport| |vitamin metabolic process| |organic acid transmembrane transport| |carboxylic acid transmembrane transport| |transition metal ion homeostasis| |proton transmembrane transport| |drug transport| |cellular modified amino acid metabolic process| |coenzyme metabolic process| |anion transmembrane transport| |carboxylic acid transport| |organic acid transport| |apical plasma membrane| |monovalent inorganic cation transport| |cofactor metabolic process| |organic anion transport| |drug metabolic process| |cellular metal ion homeostasis| |inorganic cation transmembrane transport| |anion transport| |cation transmembrane transport| |cell surface| |metal ion homeostasis| |cellular cation homeostasis| |metal ion transport| |cellular ion homeostasis| |inorganic ion transmembrane transport| |import into cell| |cation homeostasis| |inorganic ion homeostasis| |cellular chemical homeostasis| |cellular amide metabolic process| |ion homeostasis| |cation transport| |cellular homeostasis| |carboxylic acid metabolic process| |ion transmembrane transport| |oxoacid metabolic process| |response to drug| |organic acid metabolic process| |chemical homeostasis| |transmembrane transport| |ion transport| |amide transport| |homeostatic process| |small molecule metabolic process| |nitrogen compound transport| |system process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp243|S-trityl-L-cysteine 0.5μM R05 exp243]]|-1.77| |[[:results:exp150|SGC0649 7μM R03 exp150]]|-1.72| |[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|1.88| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: N/A ^Tissue^Fraction Of Cell Lines Where Essential^ </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 9791 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.28 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='SLC46A1 Expression in NALM6 Cells: 2.28'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1