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Article

Disruption of SMIM1 causes the Vel- blood type.

EMBO molecular medicine - 1 May 2013

Ballif Bryan A, Helias Virginie, Peyrard Thierry, Menanteau Cécile, Saison Carole, Lucien Nicole, Bourgouin Sébastien, Le Gall Maude, Cartron Jean-Pierre, Arnaud Lionel

Abstract excerpt

Here, we report the biochemical and genetic basis of the Vel blood group antigen, which has been a vexing mystery for decades, especially as anti-Vel regularly causes severe haemolytic transfusion reactions. The protein carrying the Vel blood group antigen was biochemically purified from red blood cell membranes. Mass spectrometry-based de novo peptide sequencing identified this protein to be small integral...

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Share to Blood Group Antigens
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23505126
DOI: 10.1002/emmm.201302466
PMCID: PMC3662317

Genes

SMIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Disruption of SMIM1 causes the Vel- blood type.PMID 23505126Read ↗

SMIM1 underlies the Vel blood group and influences red blood cell traits.Semantic proximity Read ↗

Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype.Semantic proximity Read ↗

Beyond the rare blood group Vel, uncovering the functions of SMIM1 in blood and in other organsSemantic proximity Read ↗

Molecular identification of Vel-negative blood donors in a population from southern Brazil.Semantic proximity Read ↗

Dimerization of small integral membrane protein 1 promotes cell surface presentation of the Vel blood group epitope.Semantic proximity Read ↗

SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression.Semantic proximity Read ↗

SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression.Semantic proximity Read ↗

[Molecular screening for Vel- blood type and analysis of SMIM1 gene variants].Semantic proximity Read ↗

The c.64_80del SMIM1 allele is segregating in the Hutterite population.Semantic proximity Read ↗

Impact of genetic variation in the SMIM1 gene on Vel expression levels.Semantic proximity Read ↗

Screening for the SMIM1*64_80 del Allele in blood donors in a population from Southern Brazil.Semantic proximity Read ↗

Deletions in the MAL gene result in loss of Mal protein, defining the rare inherited AnWj-negative blood group phenotype.Semantic proximity Read ↗

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