SLC46A3 (solute carrier family 46 member 3)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 283537 |
| Gene name | Solute carrier family 46 member 3 |
| Gene symbol | SLC46A3 |
| Synonyms (NCBI Gene) |
FKSG16
|
| Chromosome | 13 |
| Chromosome location | 13q12.3 |
| Summary | The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytopl |
|
miRNA
miRNA information provided by mirtarbase database.
185
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q7Z3Q1 | ||||||||||
| Protein name | Lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3 (Solute carrier family 46 member 3) | ||||||||||
| Protein function | Lysosomal proton-coupled steroid conjugate and bile acid transporter. Preferentially recognizes lipophilic steroid conjugates or bile acis as endogenous substrates and seems to mediate escape from lysosomes to the cytoplasm (PubMed:36741448). Mo | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Sequence | |||||||||||
| Sequence length | 461 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
|
|||||||||||||||||||||||||
|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||