SMIM1 (uc001akw.4) at chr1:3689352-3692546 - Homo sapiens small integral membrane protein 1 (SMIM1), mRNA. SMIM1 (uc031pkx.1) at chr1:3689334-3692546 - Homo sapiens small integral membrane protein 1 (SMIM1), mRNA. SMIM12 (uc001byb.3) at chr1:35315963-35325417 - Homo sapiens small integral membrane protein 12 (SMIM12), transcript variant 3, mRNA.

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.

SMIM1 topology was then determined by assessing the N-glycosylation of its N- or C-terminal tags. 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 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. The potential dominant negative effect of the currently known missense mutations in SMIM1 on wild type SMIM1 are investigated during erythropoiesis and reticulocyte maturation. 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.

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Cytoplasmic expression in several tissues, with additional membranous expression in few tissues. 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. Summary of SMIM1 expression in human tissue.

B3GALT4. GPR75-ASB3. PPT2-EGFL8.

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 

1.1 sp lice. 7 Apr 2013 The SMIM1 gene encodes the Vel blood group antigen.

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.

Det är därför möjligt att SMIM1 utgör en sedan länge sökt malariareceptor på de röda blodkropparna, säger Jill Storry. Publikation smim1 ID ZDB-GENE-081022-87 Name small integral membrane protein 1 Symbol smim1 Nomenclature History Previous Names.

SBNO2. SLC1A3. SMARCD3. FAT1.
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Summary of SMIM1 expression in human tissue. Glandular cells of seminal vesicle, ovarian follicular cells and cells in seminiferus ducts exhibited moderate to strong cytoplasmic staining. Salivary gland, epididymis and renal tubules displayed distinct membranous positivity. Decidual cells and the neuronal cells showed weak nuclear immunoreactivity.

45 , 5 , p. 537-U109 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 SMIM1 gene related symptoms and diseases.
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HUGO Gene Nomenclature Committee (HGNC) approved gene symbol report for SMIM1 (small integral membrane protein 1 (Vel blood group)) also known as 

View mouse Smim1 Chr4:154020470-154026085 with: phenotypes, sequences, polymorphisms, proteins, references, function Proteintech Anti-SMIM1 Polyclonal, Catalog # 27849-1-AP. Tested in Western Blot (WB) applications. This antibody reacts with Human, Mouse samples. Supplied as 150 µL purified antibody (0.43 mg/mL).