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Smim1

LIMA1. SYNE2. CCDC85A. SBNO2. SLC1A3.

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.

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. PPT2-EGFL8. LIMA1.

SMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood group antigen at its carboxyl-terminus.
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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). SMIM1, the gene underlying Vel, encodes a 78-amino acid erythroid transmembrane protein of unknown function.

UniProtKB/Swiss-Prot Summary for SMIM1 Gene SMIM1 (HGNC Symbol) Synonyms: Vel: Description: Small integral membrane protein 1 (Vel blood group) (HGNC Symbol) Chromosome: 1: Cytoband: p36.32: Chromosome location (bp) 3772761 - 3775982: Number of transcripts i SMIM1 is responsible for the Vel blood group system (VEL) [MIM i:615264]. The Vel antigen is present on red blood cells from all people except rare Vel-negative individuals who can form antibodies to Vel in response to transfusion or pregnancy.
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Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013] SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system Antibodies to the Vel blood group antigen can cause adverse hemolytic reactions unless Vel-negative blood units are transfused. SMIM1 (Vel) Tissue specificity i The RNA specificity category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA , GTEX and FANTOM5 . SMIM1 is responsible for the Vel blood group system (VEL) [MIM i: 615264 ]. The Vel antigen is present on red blood cells from all people except rare Vel-negative individuals who can form antibodies to Vel in response to transfusion or pregnancy.

Should you like to try this antibody in flow/FACS you can use our Innovator's Reward Gene information about ENSG00000235169 / SMIM1 - small integral membrane protein 1 (Vel blood group) Browse information about SMIM1 (ENSG00000235169) covering related drugs, protein structure, pathways, genetic associations, orthologs, RNA expression and cancer biomarkers. Synonyms: Vel; Small integral membrane protein 1; Vel blood group antigen. 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.

FAQs for SMIM1 Antibody (NBP2-38120). (Showing 1 - 1 of 1 FAQ). May I know whether this Ab can be used for FACS? Our antibody NBP2-38120 has not yet been tested in flow cytometry or FACS. 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 Gene information about ENSG00000235169 / SMIM1 - small integral membrane protein 1 (Vel blood group) Browse information about SMIM1 (ENSG00000235169) covering related drugs, protein structure, pathways, genetic associations, orthologs, RNA expression and cancer biomarkers. Synonyms: Vel; Small integral membrane protein 1; Vel blood group antigen.