Smim1

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The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. SMIM1: Small integral membrane protein 1 (Vel blood group) SMIM11A: Small integral membrane protein 11A: SMIM10: Small integral membrane protein 10: SMIM10L1: – 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.

Cell atlas. Showing subcellular location of SMIM1 (Vel). We use cookies to enhance the usability of our website.

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, 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. Since the genetic background of Vel-negativity was discovered in 2013, DNA-based typing of 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. These antibodies may cause severe hemolytic reactions in blood recipients.

RABL6 . Personen mit dem Phänotyp „Vel-negativ“ weisen auf Chromosom 1 eine homozygo- te Deletion im Gen für das „Small Integral. Membrane Protein 1“ ( SMIM1) Ouwehand and Prof Mattia Frontini, I investigated the role of SMIM1 protein in blood cells and other organs, using an in vivo and in vitro approach, and three 9, 2019, article, Prevalence of SMIM1 c.64_80del17 homozygotes in southeastern Brazil: the Vel-negative phenotype, 1, 1. 10, 2018, conferenceObject 2 Jun 2019 FdUMP Fluorodesoxiuridina monofosfato. SESN1. Sestrin 1 (sestrina).
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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. Ana Cvejic, Willem Ouwehand, Cornelis Albers and colleagues show that homozygosity for a null allele of SMIM1 is responsible for the Vel– blood group phenotype.
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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. 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.

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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.

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.

SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system. Research output: Contribution to journal › Article Cell atlas.