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

2014-11-01  

Identity

HGNC
SMDT1
LOCATION
22q13.2
LOCUSID
91689
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
242318072013EMRE is an essential component of the mitochondrial calcium uniporter complex.210
242318072013EMRE is an essential component of the mitochondrial calcium uniporter complex.210
270999882016Dual functions of a small regulatory subunit in the mitochondrial calcium uniporter complex.51
264895152015Rearrangement of MICU1 multimers for activation of MCU is solely controlled by cytosolic Ca(2.).18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
310800622019Structural Mechanism of EMRE-Dependent Gating of the Human Mitochondrial Calcium Uniporter.14
307824852019SMDT1-driven change in mitochondrial dynamics mediate cell apoptosis in PDAC.0

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