TMEM30A (transmembrane protein 30A)

2014-02-01  

Identity

HGNC
TMEM30A
LOCATION
6q14.1
LOCUSID
55754
ALIAS
C6orf67,CDC50A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55754
MIM: 611028
HGNC: 16667
Ensembl: ENSG00000112697

Variants:

dbSNP: 55754
ClinVar: 55754
TCGA: ENSG00000112697
COSMIC: TMEM30A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112697ENST00000230461Q9NV96
ENSG00000112697ENST00000370050Q9NV96
ENSG00000112697ENST00000475111Q9NV96
ENSG00000112697ENST00000518161E5RG19

Expression (GTEx)

0
50
100
150
200
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

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid 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
249041672014Caspase-mediated cleavage of phospholipid flippase for apoptotic phosphatidylserine exposure.135
179489062008ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity.83
214545562011Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2.48
232696852013Role for phospholipid flippase complex of ATP8A1 and CDC50A proteins in cell migration.26
212893022011Human TMEM30a promotes uptake of antitumor and bioactive choline phospholipids into mammalian cells.15
252393072014The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells.6
205102062010CDC50A plays a key role in the uptake of the anticancer drug perifosine in human carcinoma cells.4
292761782018The CDC50A extracellular domain is required for forming a functional complex with and chaperoning phospholipid flippases to the plasma membrane.4
300861732018TMEM30A is a candidate interacting partner for the β-carboxyl-terminal fragment of amyloid-β precursor protein in endosomes.0
308143352019TMEM30A deficiency in endothelial cells impairs cell proliferation and angiogenesis.0

Citation

Dessen P

TMEM30A (transmembrane protein 30A)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53694/tmem30a