1. Gene
  2. ATP11A - ATPase phospholipid transporting 11A Gene

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

ATP11A Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (100 - 377)

HAD

HAD: haloacid dehalogenase-like hydrolase (411 - 833)

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  • 1134 a.a.
Protein Preferred Names Protein Names

phospholipid-transporting ATPase IH

ATPase, class VI, type 11A

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

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