Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 388588
MIM: 615242
HGNC: 44204
Ensembl: ENSG00000235169
Variants:
dbSNP: 388588
ClinVar: 388588
TCGA: ENSG00000235169
COSMIC: SMIM1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000235169 | ENST00000444870 | B2RUZ4 |
| ENSG00000235169 | ENST00000444870 | M4WDD3 |
| ENSG00000235169 | ENST00000561886 | H3BS66 |
| ENSG00000235169 | ENST00000642557 | A0A2R8Y7R4 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33128268 | 2021 | SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation. | 3 |
| 33128268 | 2021 | SMIM1 missense mutations exert their effect on wild type Vel expression late in erythroid differentiation. | 3 |
| 31879955 | 2020 | Dimerization of small integral membrane protein 1 promotes cell surface presentation of the Vel blood group epitope. | 1 |
| 32301496 | 2020 | SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system. | 2 |
| 31879955 | 2020 | Dimerization of small integral membrane protein 1 promotes cell surface presentation of the Vel blood group epitope. | 1 |
| 32301496 | 2020 | SMIM1, carrier of the Vel blood group, is a tail-anchored transmembrane protein and readily forms homodimers in a cell-free system. | 2 |
| 29517970 | 2019 | SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression. | 1 |
| 31218697 | 2019 | Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression. | 0 |
| 29517970 | 2019 | SMIM1 polymorphisms in a donor population from southeast Brazil and their correlation with VEL expression. | 1 |
| 31218697 | 2019 | Identification of a novel single-nucleotide mutation in SMIM1 gene that results in low Vel antigen expression. | 0 |
| 28084402 | 2017 | SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression. | 7 |
| 28084402 | 2017 | SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression. | 7 |
| 26666208 | 2016 | The c.64_80del SMIM1 allele is segregating in the Hutterite population. | 3 |
| 27328373 | 2016 | Screening for the SMIM1*64_80 del Allele in blood donors in a population from Southern Brazil. | 2 |
| 26666208 | 2016 | The c.64_80del SMIM1 allele is segregating in the Hutterite population. | 3 |
Citation
Dessen P
SMIM1 (small integral membrane protein 1 (Vel blood group))
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56304/smim1-(small-integral-membrane-protein-1-(vel-blood-group))
