ATP11A
Function
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:25315773, PubMed:25947375, PubMed:26567335, PubMed:29799007, PubMed:30018401, PubMed:36300302). Does not show flippase activity toward phosphatidylcholine (PC) (PubMed:34403372). Contributes to the maintenance of membrane lipid asymmetry with a specific role in morphogenesis of muscle cells. In myoblasts, mediates PS enrichment at the inner leaflet of plasma membrane, triggering PIEZO1-dependent Ca2+ influx and Rho GTPases signal transduction, subsequently leading to the assembly of cortical actomyosin fibers and myotube formation (PubMed:29799007). May be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib.
Involvement in disease
Deafness, autosomal dominant, 84
DFNA84
A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA84 is characterized by slowly progressive, postlingual hearing loss.
None
The disease is caused by variants affecting the gene represented in this entry.
Leukodystrophy, hypomyelinating, 24
HLD24
An autosomal dominant disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and loss of developmental milestones and ambulation. Brain imaging shows non-progressive severe cerebral atrophy, ventriculomegaly, hypomyelinating leukodystrophy, and thinning of the corpus callosum.
None
The disease is caused by variants affecting the gene represented in this entry.
Auditory neuropathy, autosomal dominant 2
AUNA2
A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA2 is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. The outer hair cell function is preserved initially but declines with age.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Proteolytically cleaved by CASP3.
Sequence Similarities
Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
Tissue Specificity
Widely expressed (PubMed:26567335). Expressed in myoblasts (PubMed:29799007).
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Early endosome
- Recycling endosome
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Efficient exit from the endoplasmic reticulum requires the presence of TMEM30A.
Alternative names
ATPIH, ATPIS, KIAA1021, ATP11A, Phospholipid-transporting ATPase IH, ATPase IS, ATPase class VI type 11A, P4-ATPase flippase complex alpha subunit ATP11A