Information on SLC46A1
Alt. symbols: HCP1 | MGC9564 | PCFT
Approved name: solute carrier family 46 member 1
Alt. names: solute carrier family 46, member 1, solute carrier family 46 (folate transporter), member 1 | heme carrier protein 1, proton-coupled folate transporter
Location: 17q11.2: 28394642 - 28407197 (-)
Gene type: protein_coding, 9 transcripts.
Scores: LoFtool: | pLI: 0.10442252 | LOEUF: 0.780
Gene Ontology (GO)
- Molecular function: transmembrane transporter activity [GO:0022857]
- Cell component: plasma membrane [GO:0005886]
- Biological process: transmembrane transport [GO:0055085]
Normal function
Dysfunction and disease
Folate malabsorption, hereditary [MIM:229050] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
2985 |
Folate malabsorption, hereditary | AR |
229050 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of SLC46A1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 206 | ENST00000584995.5 | protein_coding | No | 1030 | XM_047435280 | ||||
| 208 | ENST00000618626.1 | CCDS74019 | protein_coding | 4 | No | 5363 | NM_001242366 | ||
| 207 | ENST00000612814.5 | 1 | CCDS74020 | Select | protein_coding | 5 | Yes | 6492 | NM_080669 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in SLC46A1
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|