SMIM1, small integral membrane protein 1 (Vel blood group). This gene encodes a small, conserved protein that participates in red blood cell formation.
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SMIM1 has 1,286 functional associations with biological entities spanning 6 categories (molecular profile, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 33 datasets. Click the + buttons to view associations for SMIM1 from the datasets below. 1 (23) SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system Anja Nylander1,2, Pawel Leznicki3, Karina Vidovic1 Phenotype data for mouse gene Smim1. Discover Smim1's significant phenotypes, expression, images, histopathology and more. Data for gene Smim1 is all freely available for download. NX_B2RUZ4 - SMIM1 - Small integral membrane protein 1 - Function.
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SMIM1 Antibodies . View more. Synonyms. Small integral membrane protein 1; Vel blood group antigen View less.
Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion Download scientific diagram | SMIM1 protein.
Disruption of SMIM1, encoding small integral membrane protein 1, is responsible for the Vel‐negative blood type, a rare but clinically‐important blood type. However, the exact nature of the Vel antigen and how it is presented by SMIM1 are poorly understood.
Salivary gland, epididymis and renal tubules displayed distinct membranous positivity. Decidual cells and the neuronal cells showed weak nuclear immunoreactivity. SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system.
Jill Storry, Martin Olsson and colleagues show that homozygosity for a null allele of SMIM1 defines the Vel– blood group phenotype. SMIM1 encodes an evolutionarily conserved transmembrane
Small integral membrane protein 1 (Vel blood group)) – білок, який кодується однойменним геном, розташованим у людей на 1-й хромосомі. It describes the identification and characterization of a novel heterozygous missense mutation in SMIM1, which results in very weak Vel expression on red blood cells. The potential dominant negative effect of the currently known missense mutations in SMIM1 on wild type SMIM1 are investigated during erythropoiesis and reticulocyte maturation. SMIM1 as an erythroid transmembrane protein, an ideal candidate gene. According to the current human genome annotation, SMIM1 has four exons and encodes a 78-amino-acid protein (calculated weight ~8.7 kDa).
SMIM1 as an erythroid transmembrane protein, an ideal candidate gene. According to the current human genome annotation, SMIM1 has four exons and encodes a 78-amino-acid protein (calculated weight ~8.7 kDa). SMIM1, the gene underlying Vel, encodes a 78-amino acid erythroid transmembrane protein of unknown function. The transmembrane orientation of SMIM1 has been debated since experimental data supported both the N- and C-termini being extracellular. 2013-06-03 · Expression of the Vel antigen on SMIM1-transfected HEK293T cells confirmed that SMIM1 is the gene underlying the Vel blood group. All 24 Vel-negative individuals or those with weak Vel expression who were heterozygous for the deletion were homozygous for the major A allele of SNP rs1175550, which is present in intron 2 of the STIM1 gene and is associated with decreased SMIM1 transcript levels.
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It describes the identification and characterization of a novel heterozygous missense mutation in SMIM1, which results in very weak Vel expression on red blood cells. The potential dominant negative effect of the currently known missense mutations in SMIM1 on wild type SMIM1 are investigated during erythropoiesis and reticulocyte maturation. SMIM1 as an erythroid transmembrane protein, an ideal candidate gene. According to the current human genome annotation, SMIM1 has four exons and encodes a 78-amino-acid protein (calculated weight ~8.7 kDa).
All 24 Vel-negative individuals or those with weak Vel expression who were heterozygous for the deletion were homozygous for the major A allele of SNP rs1175550, which is present in intron 2 of the STIM1 gene and is associated with decreased SMIM1 transcript levels. SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system.
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Expression of SMIM1 in cancer tissue. The cancer tissue page shows antibody staining of the protein in 20 different cancers.
SMIM1 as an erythroid transmembrane protein, an ideal candidate gene. According to the current human genome annotation, SMIM1 has four exons and encodes a 78-amino-acid protein (calculated weight ~8.7 kDa). SMIM1, the gene underlying Vel, encodes a 78-amino acid erythroid transmembrane protein of unknown function.
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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.
It has only been validated for use in IHC with paraffin embedded tissues. Should you like to try this antibody in flow/FACS you can use our Innovator's Reward Phenotype data for mouse gene Smim1. Discover Smim1's significant phenotypes, expression, images, histopathology and more. Data for gene Smim1 is all freely available for download. Disruption of SMIM1, encoding small integral membrane protein 1, is responsible for the Vel‐negative blood type, a rare but clinically‐important blood type.