SMDT1 (single-pass membrane protein with aspartate rich tail 1)

2014-11-01  

Identity

HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
C22orf32,DDDD,EMRE

Other Information

Locus ID:

NCBI: 91689
MIM: 615588
HGNC: 25055
Ensembl: ENSG00000183172

Variants:

dbSNP: 91689
ClinVar: 91689
TCGA: ENSG00000183172
COSMIC: SMDT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183172ENST00000331479Q9H4I9
ENSG00000183172ENST00000422252F8WDX6

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
374547732023SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.2
374547732023SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.2
332966462020Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.12
332966462020Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.12
307824852019SMDT1-driven change in mitochondrial dynamics mediate cell apoptosis in PDAC.7
310800622019Structural Mechanism of EMRE-Dependent Gating of the Human Mitochondrial Calcium Uniporter.76
307824852019SMDT1-driven change in mitochondrial dynamics mediate cell apoptosis in PDAC.7
310800622019Structural Mechanism of EMRE-Dependent Gating of the Human Mitochondrial Calcium Uniporter.76
270999882016Dual functions of a small regulatory subunit in the mitochondrial calcium uniporter complex.104
270999882016Dual functions of a small regulatory subunit in the mitochondrial calcium uniporter complex.104
264895152015Rearrangement of MICU1 multimers for activation of MCU is solely controlled by cytosolic Ca(2.).29
264895152015Rearrangement of MICU1 multimers for activation of MCU is solely controlled by cytosolic Ca(2.).29
242318072013EMRE is an essential component of the mitochondrial calcium uniporter complex.366
242318072013EMRE is an essential component of the mitochondrial calcium uniporter complex.366
242318072013EMRE is an essential component of the mitochondrial calcium uniporter complex.366

Citation

Dessen P

SMDT1 (single-pass membrane protein with aspartate rich tail 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73547/smdt1-(single-pass-membrane-protein-with-aspartate-rich-tail-1)