| URN | urn:agi-llid:113235 |
|---|---|
| Connectivity | 14 |
| Name | Slc46a1 |
| Description | solute carrier family 46 (folate transporter), member 1 |
| Notes | 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 transmembrane 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 cause the autosomal recessive hereditary folate malabsorption (HFM) disease. HFM is characterized by folate deficiency due to reduced intestinal folate absorption and subsequent anemia, hypoimmunoglobulinemia, and recurrent infections. [provided by RefSeq] |
| Pathway | folate cycle metabolic pathway |
|---|
| GO Molecular Function | transporter activity |
|---|---|
| folic acid binding | |
| heme transporter activity | |
| folic acid transporter activity |
| GO Cellular Component | membrane |
|---|---|
| plasma membrane | |
| cytoplasm | |
| apical plasma membrane | |
| integral to membrane |
| GO Biological Process | transmembrane transport |
|---|---|
| transport | |
| heme transport | |
| folic acid transport |
| Ariadne Ontology | Other transport proteins |
|---|---|
| Vitamin import |
| Group | Other transport proteins |
|---|---|
| Vitamin import | |
| transporter activity | |
| transmembrane transport | |
| transport | |
| heme transport | |
| folic acid transport | |
| folic acid binding | |
| heme transporter activity | |
| folic acid transporter activity | |
| membrane | |
| plasma membrane | |
| cytoplasm | |
| apical plasma membrane | |
| integral to membrane |
| MedScan ID | 113235 |
|---|
| Hugo ID | 30521 |
|---|
| Human chromosome position | 17q11.2 |
|---|
| LocusLink ID | 113235 |
|---|---|
| 52466 | |
| 303333 |
| Alias | HCP1 |
|---|---|
| PCFT | |
| MGC9564 | |
| FLJ39875 | |
| proton-coupled folate transporter | |
| G21 | |
| PCFT/HCP1 | |
| heme carrier protein 1 | |
| solute carrier family 46 member 1 | |
| FLJ00234 | |
| D11Ertd18e | |
| 1110002C08Rik | |
| RP23-399H5.1 | |
| OTTMUSP00000000186 | |
| OTTMUSP00000000187 | |
| MGC108986 | |
| RGD1309472 | |
| 1110002C08 | |
| mflj00234 | |
| Slc46a1 | |
| solute carrier family 46 (folate transporter), member 1 | |
| solute carrier family 46, member 1 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 611672 |
|---|---|
| 229050 |
| Mouse chromosome position | 11 45.0 cM |
|---|
| GO ID | 0005542 |
|---|---|
| 0008517 | |
| 0015232 | |
| 0005215 | |
| 0015884 | |
| 0055085 | |
| 0016324 | |
| 0005737 | |
| 0016021 | |
| 0005886 | |
| 0015886 | |
| 0006810 | |
| 0016020 |
| Rat chromosome position | 10q25 |
|---|
| Swiss-Prot Accession | Q96NT5 |
|---|---|
| Q6PEM8 | |
| Q5EBA8 | |
| Q571I8 | |
| Q5SYG0 | |
| Q8R1H7 | |
| Q9D1P1 | |
| Q1HE20 | |
| Q86T92 | |
| Q8TEG3 | |
| Q96FL0 |
| Unigene ID | Hs.724517 |
|---|---|
| Mm.131618 | |
| Rn.153975 |
| KEGG ID | hsa:113235 |
|---|---|
| mmu:52466 | |
| rno:303333 |
| Swiss-Prot ID | PCFT_MOUSE |
|---|---|
| PCFT_RAT | |
| PCFT_HUMAN |
| Cell Localization | Apical cell membrane |
|---|---|
| Cytoplasm | |
| Plasma membrane |
| IPI ID | IPI00134013 |
|---|---|
| IPI00208938 | |
| IPI00043883 | |
| IPI00550230 | |
| IPI00885589 |
| Homologene ID | 41693 |
|---|
| RGD ID | 1309472 |
|---|
| MGI ID | 1098733 |
|---|