SMIM1 encodes a 78-amino acid, single transmembrane domain (TMD) containing protein with a predicted TMD at amino acids 47 to 67. The protein was previously predicted to be a type I transmembrane protein (Storry et al., 2013) but has recently been shown to be a type II transmembrane domain protein with amino acids at positions 1 to 47 predicted to constitute the cytoplasmic domain while

- 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. Publikation

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 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. SMIM1 (uc001akw.4) at chr1:3689352-3692546 - Homo sapiens small integral membrane protein 1 (SMIM1), mRNA.

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.

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, 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.

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.

HPA069088 Sigma-Aldrich. Anti-SMIM1 antibody produced in rabbit. Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered 5 Mar 2021 SMIM1 (Small Integral Membrane Protein 1 (Vel Blood Group)) is a Protein Coding gene. Diseases associated with SMIM1 include Blood We combined SNP profiling and transcriptional network modeling to link the Vel- negative phenotype to SMIM1, located in a 97-kb haplotype block on chromosome The transmembrane protein SMIM1 was identified as carrying the. Vel antigen.

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 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.
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The potential dominant negative effect of the currently known missense mutations in SMIM1 on wild type SMIM1 are investigated during erythropoiesis and reticulocyte maturation.

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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.

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.

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HPA069088 Sigma-Aldrich. Anti-SMIM1 antibody produced in rabbit. Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered

This gene produces small integral membrane protein 1, a single-pass transmembrane protein which carries the Vel antigen but whose structure and function are otherwise poorly understood.

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

It shows a significant loss of Vel expression during enucleation and reticulocyte maturation, resulting in nearly absence of the Vel blood group on red blood cells. 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.

si:dkey-23c22.1; zgc:194254; Type protein_coding_gene Location Chr: 8 Mapping Details/Browsers Description Involved in nucleate erythrocyte development.