SLC67A1
Solute Carrier Family 67 Member 1
Gene Information Card
| Symbol | SLC67A1 |
|---|---|
| Full Name | Solute Carrier Family 67 Member 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000284939 |
| UniProt ID | A0A1B0GTV4 |
| OMIM ID | 619759 |
| HGNC ID | 53825 |
| Aliases | MFSD14B, FLJ46321 |
Description
SLC67A1 encodes a member of the solute carrier family 67, predicted to function as a transmembrane transporter. The protein is localized to the plasma membrane and may be involved in small molecule transport. Expression data suggest broad tissue distribution with highest levels in the kidney and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy | Loss-of-function mutations in SLC67A1 are associated with early-onset seizures and neurodevelopmental delay. | ClinVar, OMIM |
| Intellectual disability | Homozygous missense variants have been reported in patients with non-syndromic intellectual disability. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Brain | 3.1 | Low |
| Testis | 2.7 | Low |
| Lung | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.4 | Moderate expression |
| HepG2 | 4.8 | Moderate expression |
| SH-SY5Y | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146His) | Missense | Rare | Likely pathogenic; associated with developmental epileptic encephalopathy |
| c.112C>T (p.Arg38*) | Nonsense | Very rare | Loss-of-function; predicted to cause protein truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that disrupt transporter activity or protein stability are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC67A1.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for SLC67A1.
View complete mutation data：
Gene Ontology (GO)
| • transporter activity (GO:0005215) | • integral component of membrane (GO:0016021) |
| • transmembrane transport (GO:0055085) |
Pathways
• Solute carrier-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC67A1 is a 456-amino acid transmembrane protein with 12 predicted alpha-helical domains, characteristic of the major facilitator superfamily (MFS). It is predicted to function as an organic solute transporter, though its specific substrate remains unknown. The protein is expressed in kidney, liver, and brain, and mutations are linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC67A1 Knockout HEK293 Cell Line | EDJ-KQ1993 | Human | 5002 | Details Get a Quote |
| SLC67A1 Knockout A-549 Cell Line | EDJ-KQ21993 | Human | 5002 | Details Get a Quote |
| SLC67A1 Knockout HCT 116 Cell Line | EDJ-KQ21994 | Human | 5002 | Details Get a Quote |
| SLC67A1 Knockout HeLa Cell Line | EDJ-KQ21995 | Human | 5002 | Details Get a Quote |
