SMIM1 topology was then determined by assessing the N-glycosylation of its N- or C-terminal tags. Weak Vel expression can be caused by mutations within SMIM1 in a heterozygous setting, suggesting a dominant negative effect of SMIM1 mutants on wild type (wt)SMIM1 expression. Here we report how SMIM1 expression is regulated during erythropoiesis, to understand its variable expression on erythrocytes. Study Design and Methods Antibody information for antibodies HPA069088 used in analysis of ENSG00000235169 / SMIM1 SMIM1 (ингл. Small integral membrane protein 1 (Vel blood group)) — кешенең 1-нче хромосомасы аксымы, шул ук исемдәге ген тарафыннан кодлана торган югары молекуляр органик матдә. - Det nya proteinet SMIM1 påminner intressant nog om andra molekyler som utnyttjas av malariaparasiter för att infektera människor. Det är därför möjligt att SMIM1 utgör en sedan länge sökt malariareceptor på de röda blodkropparna, säger Jill Storry.

HOMEFAQAPI. SMIM1. small integral membrane protein 1 (Vel blood group) 30 Oct 2020 Weak Vel expression can be caused by mutations within SMIM1 in a heterozygous setting, suggesting a dominant negative effect of SMIM1 The genetic background of the Vel blood group has been a mystery for decades. Identifying SMIM1, SMall Integral Membrane protein 1, as the protein encoding SMIM1 (англ. Small integral membrane protein 1 (Vel blood group)) – білок, який кодується однойменним геном, розташованим у людей на 1-й хромосомі.

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.

PPT2-EGFL8. LIMA1. SYNE2. CCDC85A.

Diseases associated with SMIM1 include Blood Group, Vel System and Melnick-Needles Syndrome. UniProtKB/Swiss-Prot Summary for SMIM1 Gene Regulator of red blood cell formation. 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. [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.

FdUTP Fluorodesoxiuridina trifosfato. SMIM1. Small Integral Membrane. The SMIM1 gene codes for the Vel antigen.
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SMIM1 consists Mass spectrometry‐based de novo peptide sequencing identified this protein to be small integral membrane protein 1 (SMIM1), a previously uncharacterized HUGO Gene Nomenclature Committee (HGNC) approved gene symbol report for SMIM1 (small integral membrane protein 1 (Vel blood group)) also known as SMIM1 underlies the Vel blood group and influences red blood cell traits. Ana Cvejic, Lonneke Haer-Wigman, Jonathan C. Stephens, Myrto Kostadima, Peter A. v2.0. Search here or paste a list of multiple genes (Ensembl IDs or HGNC symbols).

Publikation smim1 ID ZDB-GENE-081022-87 Name small integral membrane protein 1 Symbol smim1 Nomenclature History Previous Names. si:dkey-23c22.1; zgc:194254; Type protein_coding_gene Location Chr: 8 Mapping Details/Browsers Description Involved in nucleate erythrocyte development. Välja studier Anmälan och antagning Livet som student Internationella möjligheter Examen och karriär Kompetensutveckling för yrkesverksamma Coronaviruset/covid-19 – information för studenter 2019-05-01 · SMIM1 encodes a 78-amino acid, single transmembrane domain (TMD) containing protein with a predicted TMD at amino acids 47 to 67.
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However, the exact nature of the Vel antigen and how it is presented by SMIM1 are poorly understood.

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.

035, CD59, CD59, CD59, protein, v2.0 01-MAR-2020. 036, AUG, Augustine, SLC29A1, protein, 8th April 2019. 2017年12月10日根据Vel－产生的分子机制分别设计可特异扩增野生型和缺失突变SMIM1序列的引物，采用序列特异性引物PCR检测样本的基因型，通过DNA测序 2 Mar 2021 Smim1: 0.5. 0.6. 0.7.