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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ATP11C
ATPase phospholipid transporting 11C (ATP11C blood group)
Chromosome X Β· Xq27.1
NCBI Gene: 286410Ensembl: ENSG00000101974.15HGNC: HGNC:13554UniProt: A0A804HIW2
53PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingendoplasmic reticulumplasma membranephosphatidylethanolamine flippase activityCongenital hemolytic anemiacombined immunodeficiency with skin granulomasisolated agammaglobulinemiaICF syndrome
✦AI Summary

ATP11C is a P4-ATPase that functions as a major phospholipid flippase, catalyzing the ATP-dependent transport of phosphatidylserine (PS) and phosphatidylethanolamine from the outer to inner leaflet of cellular membranes 1. The protein maintains critical membrane asymmetry, particularly in erythrocytes where it prevents PS exposure on the cell surface, which would otherwise serve as a phagocytic signal for splenic macrophage-mediated clearance 1. ATP11C activity is regulated through multiple mechanisms including PKC-mediated endocytosis via a di-leucine motif and caspase-dependent cleavage during apoptosis 2. Mutations in ATP11C cause X-linked congenital hemolytic anemia, with patients showing 10-fold decreased PS internalization and increased senescent cell populations 1. The protein exists in multiple splice variants with distinct subcellular localizations, including polarized membrane distribution in certain cell types 3. Recent studies have implicated ATP11C in cholestatic liver disease as a candidate gene 4 and demonstrated its clinical relevance in sickle cell anemia, where the ATP11C/PLSCR1 ratio correlates with disease severity 5. Structural studies have revealed the detailed mechanism of phospholipid translocation through conformational changes during the transport cycle 6.

Sources cited
1
ATP11C is a major flippase in human erythrocytes that maintains PS asymmetry and its deficiency causes X-linked hemolytic anemia
PMID: 26944472
2
ATP11C is regulated by PKC-mediated endocytosis through a di-leucine motif upon calcium signaling
PMID: 29123098
3
ATP11C has multiple splice variants with different subcellular localizations including polarized membrane distribution
PMID: 31371488
4
ATP11C is identified as a novel candidate gene for intrahepatic cholestasis
PMID: 37314652
5
ATP11C/PLSCR1 ratio has clinical significance in sickle cell anemia and correlates with vaso-occlusive crisis
PMID: 34651249
6
Structural studies reveal the detailed mechanism of phospholipid translocation by ATP11C
PMID: 32997992
Disease Associationsβ“˜21
Congenital hemolytic anemiaOpen Targets
0.56Moderate
combined immunodeficiency with skin granulomasOpen Targets
0.08Suggestive
isolated agammaglobulinemiaOpen Targets
0.08Suggestive
ICF syndromeOpen Targets
0.07Suggestive
agammaglobulinemia 8, autosomal dominantOpen Targets
0.07Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.07Suggestive
immunodeficiency 84Open Targets
0.07Suggestive
common variable immunodeficiencyOpen Targets
0.07Suggestive
immunodeficiency 18Open Targets
0.07Suggestive
BENTA diseaseOpen Targets
0.07Suggestive
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
0.07Suggestive
combined immunodeficiency due to CTPS1 deficiencyOpen Targets
0.07Suggestive
immunodeficiency 62Open Targets
0.07Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.07Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.07Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.07Suggestive
activated PI3K-delta syndromeOpen Targets
0.07Suggestive
agammaglobulinemia 10, autosomal dominantOpen Targets
0.07Suggestive
immunodeficiency, common variable, 3Open Targets
0.07Suggestive
immunodeficiency 105Open Targets
0.07Suggestive
Hemolytic anemia, congenital, X-linkedUniProt
Pathogenic Variants2
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn)Likely pathogenic
X-linked congenital hemolytic anemia
β˜…β˜†β˜†β˜†2018β†’ Residue 415
NM_001353812.2(ATP11C):c.1666+2T>CPathogenic
X-linked congenital hemolytic anemia|Nonpapillary renal cell carcinoma
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
CDC50AProtein interaction100%SNTG2Protein interaction87%XKR8Protein interaction83%SOX3Protein interaction80%ATP8A1Shared pathway67%ATP11BShared pathway60%
Tissue Expression6 tissues
Liver
100%
Ovary
61%
Bone Marrow
44%
Lung
35%
Heart
20%
Brain
20%
Gene Interaction Network
Click a node to explore
ATP11CCDC50ASNTG2XKR8SOX3ATP8A1ATP11B
PROTEIN STRUCTURE
Preparing viewer…
PDB7BSV Β· 3.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.49Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.37 [0.28–0.49]
RankingsWhere ATP11C stands among ~20K protein-coding genes
  • #8,396of 20,598
    Most Researched53
  • #4,424of 5,498
    Most Pathogenic Variants2
  • #2,874of 17,882
    Most Constrained (LOEUF)0.49 Β· top quartile
Genes detectedATP11C
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.
PMID: 26944472
Haematologica Β· 2016
1.00
2
Newcastle disease virus exploits the phospholipid flippase ATP11c-CDC50A complex to promote viral infection.
PMID: 40812423
J Biol Chem Β· 2025
0.90
3
Phospholipid flippase ATP11C is endocytosed and downregulated following Ca
PMID: 29123098
Nat Commun Β· 2017
0.80
4
Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
PMID: 37314652
Hepatol Int Β· 2024
0.70
5
The cytoplasmic C-terminal region of the ATP11C variant determines its localization at the polarized plasma membrane.
PMID: 31371488
J Cell Sci Β· 2019
0.60