SLC14A1
Chr 18solute carrier family 14 member 1 (Kidd blood group)
Also known as: HUT11, HUT11A, HsT1341, JK, Jk(a), Jk(b), RACH1, RACH2
The protein encoded by this gene is a membrane transporter that mediates urea transport across cell membranes in erythrocytes and renal collecting ducts, facilitating the kidney's urinary concentrating mechanism. Mutations in SLC14A1 are associated with Kidd blood group variants, which primarily have clinical significance for blood transfusion compatibility rather than causing disease. The inheritance pattern follows typical Mendelian genetics for blood group systems.
Primary Disease Associations & Inheritance
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
124 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 1 | 46 | 0 | 49 |
Likely Pathogenic | 2 | 0 | 2 | 0 | 4 |
VUS | 1 | 42 | 4 | 0 | 47 |
Likely Benign | 0 | 3 | 2 | 0 | 5 |
Benign | 0 | 6 | 0 | 4 | 10 |
| Total | 5 | 52 | 54 | 4 | 115 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC14A1 · 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