ATP11A - ATPase phospholipid transporting 11A Gene

Also Known as ATPIH; ATPIS; HLD24; DFNA84

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23250

About ATP11A

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:112,690,038-112,887,168 (from NCBI)

This gene has 17 transcripts (splice variants), 267 orthologues, 13 paralogues and is associated with 3 phenotypes. Broad expression in lung (RPKM 20.5), gall bladder (RPKM 8.1) and 25 other tissues.

Summary

The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]

ATP11A Products (5)

mRNA	Protein	Name
NM_001405661.1	NP_001392590.1	phospholipid-transporting ATPase IH isoform c
NM_001405662.1	NP_001392591.1	phospholipid-transporting ATPase IH isoform d
NM_001405663.1	NP_001392592.1	phospholipid-transporting ATPase IH isoform e
NM_015205.3	NP_056020.2	phospholipid-transporting ATPase IH isoform a
NM_032189.4	NP_115565.3	phospholipid-transporting ATPase IH isoform b

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	25315773	GOA
enables phosphatidylethanolamine flippase activity	IMP IMP: Inferred from mutant phenotype	36300302	GOA
enables phosphatidylserine flippase activity	IDA IDA: Inferred from direct assay	25315773	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21914794	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of myotube differentiation	IMP IMP: Inferred from mutant phenotype	29799007	GOA
involved in regulation of membrane lipid distribution	IMP IMP: Inferred from mutant phenotype	34403372	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	25947375	GOA
part of phospholipid-translocating ATPase complex	IPI IPI: Inferred from physical interaction	25947375	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	25315773	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	36300302	GOA
located in recycling endosome	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

ATP11A Protein Structure

E1-E2_ATPase

HAD

0
200
400
600
800
1000
1134 a.a.

Protein Preferred Names	Protein Names
phospholipid-transporting ATPase IH	ATPase, class VI, type 11A

ATP11A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP11A	P98196	TMEM30A	Homo sapiens	Q9NV96	Anti Tag CoIP	33961781
Intra	ATP11A	P98196	TMEM30A	Homo sapiens	Q9NV96	Anti Tag CoIP	25947375
Intra	ATP11A	P98196	TMEM30A	Homo sapiens	Q9NV96	Crosslink	25947375
Intra	ATP11A	P98196	TMEM30A	Homo sapiens	Q9NV96	Anti Tag CoIP	31571211

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Leukodystrophy, Hypomyelinating, 24	HLD24
Deafness, Autosomal Dominant 84	DFNA84 Deafness, Autosomal Dominant, 84
Deafness, Autosomal Dominant 33	DFNA33 Autosomal Dominant Nonsyndromic Deafness 33 Autosomal Dominant Deafness 33
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip Fibrosing Alveolitis Interstitial Pneumonitis, Usual Familial Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis, Chronic Form Usual Interstitial Pneumonia Fibrosing Alveolitis Cryptogenic Hamman-Rich Disease Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonitis Usual Fibrosis Idiopathic Pulmonary Fibrosis, Pulmonary, Idiopathic Hamman-Rich Syndrome Chronic Idiopathic Pulmonary Fibrosis Acute Interstitial Pneumonia Interstitial Pulmonary Fibrosis Ipf - [Idiopathic Pulmonary Fibrosis] Idiopathic Lung Fibrosis Fibrosing Lung Disease Pulmonary Fibrosis Nos Fibrosing Pneumonitis
Hypoparathyroidism, X-Linked	HYPX X-Linked Hypoparathyroidism Parathyroid Glands, Agenesis Of Agenesis Of Parathyroid Glands Hypoparathyroidism X-Linked Hypoparathyroidism - X-Linked
Diffuse Pulmonary Fibrosis
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
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
Idiopathic Interstitial Pneumonia	Hamman-Rich Syndrome Diffuse Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis Ipf Idiopathic Interstitial Pneumonias Idiopathic Interstitial Pneumonia, Not Otherwise Specified Pulmonary Fibrosis
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]

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-RS01174	ATP11A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATP11A	VGNC	VGNC:26274
Mus musculus	ATP11A	MGD	MGI:1354735
Macaca mulatta	ATP11A	VGNC	VGNC:70064
Felis catus	ATP11A	VGNC	VGNC:60012
Canis familiaris	ATP11A	VGNC	VGNC:38238
Rattus norvegicus	ATP11A	RGD	RGD:1308688
Others	ATP11A	NCBI