ATP11A - ATPase phospholipid transporting 11A Gene

Homo sapiens

Also known as ATPIH; ATPIS; HLD24; DFNA84

Gene ID: 23250 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01174	ATP11A Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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