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388588 SMIM1

388588

SMIM1

small integral membrane protein 1 (Vel blood group)

protein-coding

Homo sapiens

基因描述

Type Description
Definition small integral membrane protein 1 (Vel blood group)

研究结论

Date Results Publications
2021-03-27 14:41:00 SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system. 32301496
2020-06-13 10:51:00 Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression. 31218697
2019-04-06 12:00:00 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. 29517970
2018-10-20 12:01:00 rs1175550G and to a lesser extent rs143702418C independently increase SMIM1 and Vel antigen expression. 28084402
2017-03-25 10:54:00 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. 27328373

名称对应

Type IDs
Synonymous Vel
Gene
UniProtKB-ID: SMIM1_HUMAN, M4WDD3_HUMAN
UniprotKB: B2RUZ4, M4WDD3
UniParc: UPI00002039BC
EMBL: AL365330, BC146957, KC152644, BC146945
Ensembl: ENSG00000235169
KO: hsa:388588
Nucleutide sequences
EMBL-CDS: AGI15326.1
Ensembl_TRS: ENST00000444870
Protein sequencees
Ensembl_PRO: ENSP00000457386
RefSeq: NP_001366620.1, NP_001275512.1, NP_001366619.1, NP_001157196.1
Others
UniRef100: UniRef100_B2RUZ4
UniRef90: UniRef90_B2RUZ4
UniRef50: UniRef50_B2RUZ4
UniGene: Hs.22047
CCDS: CCDS57966.1

全选

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研究热度

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