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Review
. 2019 Mar 6:5:e00101.
doi: 10.1016/j.parepi.2019.e00101. eCollection 2019 May.

SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives

Yaw Aniweh  1 , Prince B Nyarko  1   2 , Evelyn Quansah  1   2 , Laty Gaye Thiam  1   2 , Gordon A Awandare  1   2
Affiliations
Review

SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives

Yaw Aniweh et al. Parasite Epidemiol Control. .

Erratum in

Abstract

Recent elucidation of the genetic basis of the Vel blood group system has offered the field of blood transfusion medicine an additional consideration in determining the causes of hemolytic reactions after a patient is transfused. The identification of the SMIM1 gene to be responsible for the Vel blood group allows molecular based tools to be developed to further dissect the function of this antigen. Genetic signatures such as the homozygous 17 bp deletion and the heterozygous 17 bp deletion in combination with other single nucleotide polymorphisms (SNPs) and insertion sequences regulate the expression level of the gene. With this knowledge, it is now possible to study this antigen in-depth.

Keywords: Blood; Frameshift; Heterozygous; Nucleotides; Vel.

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Figures

Fig. 1
Fig. 1
Alignment of SMIM1 amino acids sequences from different animals. It shows a conserved extracellular and transmembrane domain with variable cytoplasmic domain. The colour denotes amino acids with similar properties.
Fig. 2
Fig. 2
SMIM1 protein. a. The schematic of the SMIM1 protein with I-TASSER predicted 3D-structure showing the extracellular domain (green), transmembrane helix (yellow) and the cytosolic domain (blue) b. Amino acids sequence of the human SMIM1 showing the confirmed different phosphorylation sites (Black) amidst the cytosolic domain (green), transmembrane domain (red) and the extracellular domain (cyan).
See this image and copyright information in PMC

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