ATP11C - ATPase phospholipid transporting 11C Gene

Also Known as ATPIG; ATPIQ; HACXL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 286410

About ATP11C

Cytogenetic location: Xq27.1 Genomic coordinates (GRCh38): X:139,726,348-139,936,903 (from NCBI)

This gene has 9 transcripts (splice variants), 213 orthologues, 13 paralogues and is associated with 1 phenotype. Ubiquitous expression in liver (RPKM 9.4), urinary bladder (RPKM 5.9) and 24 other tissues.

Summary

Enables phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Predicted to be involved in phospholipid translocation; positive regulation of B cell differentiation; and pre-B cell differentiation. Located in endoplasmic reticulum and plasma membrane. Is integral component of plasma membrane. Implicated in X-linked congenital hemolytic anemia. [provided by Alliance of Genome Resources, Apr 2022]

ATP11C Products (5)

mRNA Protein Name
NM_001010986.3 NP_001010986.2 phospholipid-transporting ATPase IG isoform b
NM_001353810.2 NP_001340739.2 phospholipid-transporting ATPase IG isoform c
NM_001353811.2 NP_001340740.2 phospholipid-transporting ATPase IG isoform d
NM_001353812.2 NP_001340741.2 phospholipid-transporting ATPase IG isoform e
NM_173694.5 NP_775965.3 phospholipid-transporting ATPase IG isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables phosphatidylethanolamine flippase activity IDA
IDA: Inferred from direct assay
24904167 GOA
enables phosphatidylserine flippase activity IDA
IDA: Inferred from direct assay
24904167 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21914794 GOA
Biological Process GO Annotation Evidence References Source
involved in phospholipid translocation IDA
IDA: Inferred from direct assay
32493773 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
21914794 GOA
part of phospholipid-translocating ATPase complex IDA
IDA: Inferred from direct assay
32493773 GOA
part of phospholipid-translocating ATPase complex IPI
IPI: Inferred from physical interaction
21914794 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
21914794 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP11C Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (98 - 373)

HAD

HAD: haloacid dehalogenase-like hydrolase (409 - 827)

  • 0
  • 200
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  • 800
  • 1000
  • 1132 a.a.
Protein Preferred Names Protein Names

phospholipid-transporting ATPase IG

  • ATPase, class VI, type 11C

ATP11C Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ATP11C Q8NB49 TMEM30A Homo sapiens Q9NV96
Anti Tag CoIP
33961781
Intra
ATP11C Q8NB49 TMEM30A Homo sapiens Q9NV96
Anti Tag CoIP
31571211
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hemolytic Anemia, Congenital, X-Linked

  • X-Linked Congenital Hemolytic Anemia

  • HACXL

  • HAXL
Congenital Hemolytic Anemia

  • Anemia Hemolytic Congenital

  • Anemia, Hemolytic, Congenital

  • Congenital Hemolytic Anaemia

  • Hereditary Hemolytic Anaemia

  • Hereditary Hemolytic Anemia
Hemolytic Anemia

  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect
Hypoparathyroidism, X-Linked

  • HYPX

  • X-Linked Hypoparathyroidism

  • Parathyroid Glands, Agenesis Of

  • Agenesis Of Parathyroid Glands

  • Hypoparathyroidism X-Linked

  • Hypoparathyroidism - X-Linked
Cholestasis, Progressive Familial Intrahepatic, 1

  • PFIC1

  • Byler Disease

  • Cholestasis, Progressive Familial Intrahepatic 1

  • Progressive Familial Intrahepatic Cholestasis 1

  • Progressive Familial Intrahepatic Cholestasis Type 1

  • Fic1 Deficiency

  • Byler'S Disease

  • Cholestasis, Fatal Intrahepatic

  • Progressive Familial Intrahepatic Cholestasis

  • Severe Atp8b1 Deficiency

  • Fatal Intrahepatic Cholestasis

  • Cholestasis, Intrahepatic, Familial, Progressive, Type 1

  • Progressive Intrahepatic Cholestasis

  • Cholestasis, Progressive Familial Intrahepatic 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

  • Dysequilibrium Syndrome

  • CAMRQ1

  • Des

  • Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

  • Cerebellar Hypoplasia, Vldlr-Associated

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

  • Uner Tan Syndrome

  • Vldlr Cerebellar Hypoplasia

  • Vldlrch

  • Vldlr-Associated Cerebellar Hypoplasia

  • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

  • Camrq

  • Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

  • Cerebellar Disorder, Nonprogressive, With Intellectual Disability

  • Cerebellar Hypoplasia, Vldlr Associated

  • Autosomal Recessive Cerebellar Ataxia With Mental Retardation

  • Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

  • Cerebellar Disorder, Nonprogressive, With Mental Retardation

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

  • Chmrq1

  • Des-Vldlr

  • Dysequilibrium Syndrome-Vldlr

  • Vldlr-Ch

  • Camrq Syndrome

  • Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

  • Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

  • Uts

  • Cerebellar Hypoplasia Vldlr-Associated

  • Dialysis Disequilibrium Syndrome
Progressive Familial Intrahepatic Cholestasis

  • Abcb4-Related Intrahepatic Cholestasis

  • Cholestasis, Progressive Familial Intrahepatic

  • Pfic

  • Byler Disease

  • Abcb11-Related Intrahepatic Cholestasis

  • Atp8b1-Related Intrahepatic Cholestasis

  • Bsep Deficiency

  • Byler Disease

  • Byler Syndrome

  • Fic1 Deficiency

  • Low Γ-Gt Familial Intrahepatic Cholestasis

  • Mdr3 Deficiency

  • Pfic

  • Cholestasis, Intrahepatic, Familial, Progressive

  • Pfic - [Progressive Familial Intrahepatic Cholestasis]
Bilirubin Metabolic Disorder

  • Hyperbilirubinemia

  • Hereditary Hyperbilirubinemia

  • Hyperbilirubinemia, Hereditary

  • Hyperbilirubinaemia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01176 ATP11C Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ATP11C VGNC VGNC:70065
Bos taurus ATP11C VGNC VGNC:26275
Felis catus ATP11C VGNC VGNC:60013
Mus musculus ATP11C MGD MGI:1859661
Rattus norvegicus ATP11C RGD RGD:1564481
Canis familiaris ATP11C VGNC VGNC:38239
Others ATP11C NCBI