ATP11C (ATPase phospholipid transporting 11C)

2011-10-01  

Identity

HGNC
LOCATION
Xq27.1
LOCUSID
ALIAS
ATPIG,ATPIQ,HACXL
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
249041672014Caspase-mediated cleavage of phospholipid flippase for apoptotic phosphatidylserine exposure.135
291230982017Phospholipid flippase ATP11C is endocytosed and downregulated following Ca2+-mediated protein kinase C activation.7
292761782018The CDC50A extracellular domain is required for forming a functional complex with and chaperoning phospholipid flippases to the plasma membrane.4
263995982015Impaired Hepatic Uptake by Organic Anion-Transporting Polypeptides Is Associated with Hyperbilirubinemia and Hypercholanemia in Atp11c Mutant Mice.0
269444722016ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.0

Citation

Dessen P

ATP11C (ATPase phospholipid transporting 11C)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52394/atp11c