ATP11C

The di-leucine motif is required for sorting to clathrin-coated endosomes upon ca(2+)-dependent PRKCA activation.

Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane (PubMed:24904167, PubMed:25315773, PubMed:26567335, PubMed:32493773). Major PS-flippase in immune cell subsets. In erythrocyte plasma membrane, it is required to maintain PS in the inner leaflet preventing its exposure on the surface. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized PS is a phagocytic signal for erythrocyte clearance by splenic macrophages (PubMed:26944472). Required for B cell differentiation past the pro-B cell stage (By similarity). Seems to mediate PS flipping in pro-B cells (By similarity). May be involved in the transport of cholestatic bile acids (By similarity).

Hemolytic anemia, congenital, X-linked

HACXL

An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal.

None

The disease is caused by variants affecting the gene represented in this entry.

Proteolytically cleaved by CASP3, CASP6 and CASP7.

Phosphorylated at Ser-1116 likely by PRKCA; this creates a functional di-leucine motif that is sufficient for endocytosis.

Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.

Widely expressed.

• Cell membrane
• Multi-pass membrane protein
• Endoplasmic reticulum membrane
• Multi-pass membrane protein
• Early endosome membrane
• Multi-pass membrane protein
• Recycling endosome membrane
• Multi-pass membrane protein
• Efficient exit from the endoplasmic reticulum requires the presence of TMEM30A. Internalized via clathrin-dependent endocytosis in response to ca(2+) signaling induced by G-protein coupled serotonin and histamine receptors.

ATPIG, ATPIQ, ATP11C, Phospholipid-transporting ATPase IG, ATPase IQ, ATPase class VI type 11C, P4-ATPase flippase complex alpha subunit ATP11C

• entrezGene:286410
• omim:300516
• swissprot:Q8NB49

Proteins

Oncology

129477Da