SLC10A3
Solute Carrier Family 10 Member 3
Gene Information Card
| Symbol | SLC10A3 |
|---|---|
| Full Name | Solute Carrier Family 10 Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 8273 ncbi.nlm.nih.gov/gene/8273 |
| Ensembl ID | ENSG00000101981 |
| UniProt ID | P09131 |
| OMIM ID | 300241 |
| HGNC ID | 10979 |
| Aliases | P3, PSEC0104, SOF1 |
Description
SLC10A3 encodes a member of the solute carrier family 10, which is involved in the transport of bile acids and other organic anions. The protein is localized to the plasma membrane and may play a role in hepatic bile acid uptake. The gene is located on the X chromosome and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cholestasis | Impaired bile acid transport due to SLC10A3 dysfunction | Limited evidence; inferred from family member SLC10A1 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small Intestine | 6.1 | Low |
| Colon | 4.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocyte-derived |
| Caco-2 | 5.8 | Intestinal epithelial |
| HEK293 | 2.4 | Embryonic kidney |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • integral component of plasma membrane (GO:0005887) | • bile acid transmembrane transporter activity (GO:0015125) |
| • bile acid transport (GO:0015721) |
Pathways
• Bile acid and bile salt metabolism (Reactome: R-HSA-194068)
Protein Summary
SLC10A3 is a 362-amino acid transmembrane protein with 7 predicted transmembrane domains. It belongs to the sodium/bile acid cotransporter family. The protein is expressed in liver, kidney, and intestine, and may function in bile acid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC10A3 Knockout HEK293 Cell Line | EDJ-KQ6189 | Human | 8273 | Details Get a Quote |
| SLC10A3 Knockout A-549 Cell Line | EDJ-KQ30022 | Human | 8273 | Details Get a Quote |
| SLC10A3 Knockout HCT 116 Cell Line | EDJ-KQ30023 | Human | 8273 | Details Get a Quote |
| SLC10A3 Knockout HeLa Cell Line | EDJ-KQ30024 | Human | 8273 | Details Get a Quote |