SLC15A1
Chr 13solute carrier family 15 member 1
Also known as: HPECT1, HPEPT1, PEPT1
The protein functions as an intestinal hydrogen-peptide cotransporter that mediates the uptake of dietary di- and tripeptides from the small intestinal lumen into enterocytes, playing a crucial role in protein digestion and absorption. Mutations in this gene cause autosomal recessive congenital short bowel syndrome, a severe intestinal disorder typically presenting in the neonatal period. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC15A1 · 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