ATP11C (ATPase phospholipid transporting 11C)

2011-10-01  

Identity

HGNC
ATP11C
LOCATION
Xq27.1
LOCUSID
286410
ALIAS
ATPIG,ATPIQ,HACXL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 286410
MIM: 300516
HGNC: 13554
Ensembl: ENSG00000101974

Variants:

dbSNP: 286410
ClinVar: 286410
TCGA: ENSG00000101974
COSMIC: ATP11C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101974ENST00000327569Q8NB49
ENSG00000101974ENST00000361648Q8NB49
ENSG00000101974ENST00000370557A0A067XG54
ENSG00000101974ENST00000422228H7C0E8
ENSG00000101974ENST00000433868H7C113
ENSG00000101974ENST00000450801A0A067XG57

Expression (GTEx)

0
5
10
15
20
25
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

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
367530362023ATP11C promotes the differentiation of pre-B cells into immature B cells but does not affect their IL-7-dependent proliferation.0
376716812023A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.2
367530362023ATP11C promotes the differentiation of pre-B cells into immature B cells but does not affect their IL-7-dependent proliferation.0
376716812023A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.2
346512492022The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia.1
361625062022Two types of type IV P-type ATPases independently re-establish the asymmetrical distribution of phosphatidylserine in plasma membranes.2
346512492022The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia.1
361625062022Two types of type IV P-type ATPases independently re-establish the asymmetrical distribution of phosphatidylserine in plasma membranes.2
324937732020Crystal structure of a human plasma membrane phospholipid flippase.27
329979922020Transport Cycle of Plasma Membrane Flippase ATP11C by Cryo-EM.30
331033822020Reduction in flippase activity contributes to surface presentation of phosphatidylserine in human senescent erythrocytes.7
324937732020Crystal structure of a human plasma membrane phospholipid flippase.27
329979922020Transport Cycle of Plasma Membrane Flippase ATP11C by Cryo-EM.30
331033822020Reduction in flippase activity contributes to surface presentation of phosphatidylserine in human senescent erythrocytes.7
312533922019ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking.3

Citation

Dessen P

ATP11C (ATPase phospholipid transporting 11C)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52394