SMIM1
Chr 1ARsmall integral membrane protein 1 (Vel blood group)
Also known as: Vel
This protein regulates red blood cell formation and serves as the antigen for the Vel blood group system. Autosomal recessive mutations cause Vel-negative blood group status, which can lead to hemolytic transfusion reactions and hemolytic disease of the newborn when Vel-negative individuals are exposed to Vel-positive blood. The gene shows low constraint to loss-of-function variation in the general population.
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative 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
112 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 | — | — | — | — | 85 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 19 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 1 |
| Total | — | 109 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SMIM1 · 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