The SMIM1 gene codes for the Vel antigen. The Vel negative phenotype is caused by a homozygous 17 base pair deletion in exon 3 of the SMIM1 gene which

SMIM1 (Small Integral Membrane Protein 1 (Vel Blood Group)) is a Protein Coding gene. Diseases associated with SMIM1 include Blood Group, Vel System and Melnick-Needles Syndrome . UniProtKB/Swiss-Prot Summary for SMIM1 Gene

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Smim1

0.8. 0.9. 1. 1.1 sp lice. 7 Apr 2013 The SMIM1 gene encodes the Vel blood group antigen. Researchers have uncovered the gene at the root of a human blood group that has Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression. the present study demonstrated that although the SMIM1*64_80del allele is responsible for some variation of Vel phenotype in this donor population, Vel expression is also controlled by molecular changes in SMIM1 intron 2.

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2 Mar 2021 Smim1: 0.5. 0.6. 0.7. 0.8. 0.9. 0.4. 0.6. 0.8. 1 un sp lice d. Smim1 data model. 95% c.i.. 0.5. 0.6. 0.7. 0.8. 0.9 latent time. 0.7. 0.8. 0.9. 1. 1.1 sp lice.

This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein.

Identifying SMIM1, SMall Integral Membrane protein 1, as the protein encoding the Vel antigen has significantly improved the identification of Vel negative donors. These rare donors are essential for safe blood transfusions.

Vel. This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. Summary of SMIM1 expression in human tissue. Cytoplasmic expression in several tissues, with additional membranous expression in few tissues.

All the information presented here about the SMIM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine. smim1_mouse

This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Anti-SMIM1.
51 chf to gbp

Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion Download scientific diagram | SMIM1 protein. a. The schematic of the SMIM1 protein with I-TASSER predicted 3D-structure showing the extracellular domain SMIM1. B3GALT4. GPR75-ASB3.

Related Gene Products.
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Abstract The SMIM1 gene, which encodes the high-frequency blood group antigen Vel, has not been systematically analyzed at the molecular level in Chinese individuals. To better understand the SMIM1 genetic polymorphism, we assessed mutations among healthy Chinese individuals, patients with red blood cell autoantibodies and hematological disease.

Tested in Western Blot (WB) applications. This antibody reacts with Human, Mouse samples.

Cell atlas. Showing subcellular location of SMIM1 (Vel). We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies.

SMIM1 gene product. Vel. This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. Summary of SMIM1 expression in human tissue.

However, the exact nature of the Vel antigen and how it is presented by SMIM1 are poorly understood.