SLC47A1
Chr 17solute carrier family 47 member 1
Also known as: MATE1
The protein functions as a multidrug efflux pump that transports cationic compounds including endogenous metabolites, drugs, and toxins through the kidney and liver for excretion in urine and bile. This gene shows extremely low constraint against loss-of-function variants (pLI ~0), and no clear disease associations have been established from mutations in SLC47A1. The gene is located within the Smith-Magenis syndrome region on chromosome 17, but deletions causing this syndrome typically involve multiple genes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 78 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 14 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 3 |
| Total | — | 100 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC47A1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools