| SMIM1 absence is associated with reduced energy expenditure and excess weight. | SMIM1 absence is associated with reduced energy expenditure and excess weight.
Stefanucci L, Moslemi C, Tomé AR, Virtue S, Bidault G, Gleadall NS, Watson LPE, Kwa JE, Burden F, Farrow S, DBDS Genetic Consortium, Chen J, MAGIC, Võsa U, Burling K, Walker L, Ord J, Barker P, Warner J, Frary A, Renhstrom K, Ashford SE, Piper J, Biggs G, Erber WN, Hoffman GJ, Schoenmakers N, Erikstrup C, Rieneck K, Dziegiel MH, Ullum H, Azzu V, Vacca M, Aparicio HJ, Hui Q, Cho K, Sun YV, Wilson PW, Bayraktar OA, Vidal-Puig A, Ostrowski SR, Astle WJ, Olsson ML, Storry JR, Pedersen OB, Ouwehand WH, Chatterjee K, Vuckovic D, Frontini M. | 09/23/2024 |
| SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation. | SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation.
van der Rijst MVE, Abay A, Aglialoro F, van der Schoot CE, van den Akker E. | 07/10/2021 |
| Dimerization of small integral membrane protein 1 promotes cell surface presentation of the Vel blood group epitope. | Dimerization of small integral membrane protein 1 promotes cell surface presentation of the Vel blood group epitope.
Kelley LP, Nylander A, Arnaud L, Schmoker AM, St Clair RM, Gleason LA, Souza JM, Storry JR, Olsson ML, Ballif BA. | 04/24/2021 |
| SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system. | SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system.
Nylander A, Leznicki P, Vidovic K, High S, Olsson ML., Free PMC Article | 03/27/2021 |
| Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression. | Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression.
van der Rijst MVE, Voorn L, Veldhuisen B, Jongerius JM, van den Akker E, van der Schoot CE., Free PMC Article | 06/13/2020 |
| 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 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression.
Arnoni CP, De Paula Vendrame TA, Muniz JG, Gazito D, De Medeiros Person RD, Pereira Cortez AJ, Latini FRM, Castilho L., Free PMC Article | 04/6/2019 |
| rs1175550G and to a lesser extent rs143702418C independently increase SMIM1 and Vel antigen expression. | SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression.
Christophersen MK, Jöud M, Ajore R, Vege S, Ljungdahl KW, Westhoff CM, Olsson ML, Storry JR, Nilsson B., Free PMC Article | 10/20/2018 |
| Among the 448 samples analysed, 10 (2.23%) harboured the 17 bp deletion of the gene SMIM1, and all were heterozygote for the SMIM1*64_80 del allele. | Screening for the SMIM1*64_80 del Allele in blood donors in a population from Southern Brazil.
Costa DC, Dezan M, Santos T, Schinaider AA, Schörner EJ, Levi JE, Santos-Silva MC. | 03/25/2017 |
| Alleles that initially entered the population have been maintained within the population. The c.64_80del null allele of SMIM1 is one such allele, thus having implications for transfusion medicine and child or maternal health. | The c.64_80del SMIM1 allele is segregating in the Hutterite population.
Coghlan G, Zelinski T. | 09/3/2016 |
| SMIM1 carries the Vel antigen as a type II membrane protein with a predicted C-terminal extracellular domain of only 3-12 amino acids | SMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood group antigen at its carboxyl-terminus.
Arnaud L, Kelley LP, Helias V, Cartron JP, Ballif BA., Free PMC Article | 03/5/2016 |
| Weak Vel expression levels are caused by multiple genetic factors in SMIM1 and probably also by other genetic or environmental factors. | Impact of genetic variation in the SMIM1 gene on Vel expression levels.
Haer-Wigman L, Stegmann TC, Solati S, Ait Soussan A, Beckers E, van der Harst P, van Hulst-Sundermeijer M, Ligthart P, van Rhenen D, Schepers H, de Haas M, van der Schoot CE. | 09/12/2015 |
| A cohort of 70 Vel- individuals was found to be uniformly homozygous for a 17 nucleotide deletion in the coding sequence of SMIM1. | Disruption of SMIM1 causes the Vel- blood type.
Ballif BA, Helias V, Peyrard T, Menanteau C, Saison C, Lucien N, Bourgouin S, Le Gall M, Cartron JP, Arnaud L., Free PMC Article | 11/16/2013 |
| Loss of SMIM1 is associated with reduction in red blood cell formation. | SMIM1 underlies the Vel blood group and influences red blood cell traits.
Cvejic A, Haer-Wigman L, Stephens JC, Kostadima M, Smethurst PA, Frontini M, van den Akker E, Bertone P, Bielczyk-Maczyńska E, Farrow S, Fehrmann RS, Gray A, de Haas M, Haver VG, Jordan G, Karjalainen J, Kerstens HH, Kiddle G, Lloyd-Jones H, Needs M, Poole J, Soussan AA, Rendon A, Rieneck K, Sambrook JG, Schepers H, Silljé HHW, Sipos B, Swinkels D, Tamuri AU, Verweij N, Watkins NA, Westra HJ, Stemple D, Franke L, Soranzo N, Stunnenberg HG, Goldman N, van der Harst P, van der Schoot CE, Ouwehand WH, Albers CA., Free PMC Article | 06/22/2013 |
| Loss of SMIM1 is associated with reduction in red blood cell formation. | Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype.
Storry JR, Jöud M, Christophersen MK, Thuresson B, Åkerström B, Sojka BN, Nilsson B, Olsson ML. | 06/22/2013 |