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ATP8A1 - ATPase phospholipid transporting 8A1 Gene

Also Known as ATPIA; ATPP2; ATPASEII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10396

About ATP8A1

Cytogenetic location: 4p13 Genomic coordinates (GRCh38): 4:42,408,373-42,657,105 (from NCBI)

This gene has 11 transcripts (splice variants), 229 orthologues and 13 paralogues. Broad expression in brain (RPKM 28.9), thyroid (RPKM 28.5) and 20 other tissues.

Summary

The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATP8A1 Products (6)

mRNA	Protein	Name
NM_001105529.1	NP_001098999.1	phospholipid-transporting ATPase IA isoform b
NM_001400024.1	NP_001386953.1	phospholipid-transporting ATPase IA isoform c
NM_001400025.1	NP_001386954.1	phospholipid-transporting ATPase IA isoform d
NM_001400026.1	NP_001386955.1	phospholipid-transporting ATPase IA isoform e
NM_001400027.1	NP_001386956.1	phospholipid-transporting ATPase IA isoform f
NM_006095.2	NP_006086.1	phospholipid-transporting ATPase IA isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatidylserine flippase activity	IDA IDA: Inferred from direct assay	31416931	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20947505	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in aminophospholipid translocation	IDA IDA: Inferred from direct assay	31416931	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	20947505	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21914794	GOA
part of phospholipid-translocating ATPase complex	IDA IDA: Inferred from direct assay	31416931	GOA
part of phospholipid-translocating ATPase complex	IPI IPI: Inferred from physical interaction	20961850	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20947505	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

ATP8A1 Protein Structure

E1-E2_ATPase

HAD

0
200
400
600
800
1000
1164 a.a.

Protein Preferred Names	Protein Names
phospholipid-transporting ATPase IA	ATPase II

ATP8A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP8A1	Q9Y2Q0	TMEM30A	Homo sapiens	Q9NV96	Confocal	20947505
Intra	ATP8A1	Q9Y2Q0	TMEM30A	Homo sapiens	Q9NV96	Anti Tag CoIP	20961850
Intra	ATP8A1	Q9Y2Q0	TMEM30A	Homo sapiens	Q9NV96	Confocal	20961850

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Paraplegia 84, Autosomal Recessive	SPG84 Hereditary Spastic Paraplegia 84 Spastic Paraplegia 84 Autosomal Recessive Doid:0112347
Spastic Paraplegia 85, Autosomal Recessive	SPG85 Hereditary Spastic Paraplegia 85 Spastic Paraplegia 85 Autosomal Recessive Doid:0112345
Spastic Paraplegia 86, Autosomal Recessive	SPG86 Hereditary Spastic Paraplegia 86 Spastic Paraplegia 86 Autosomal Recessive Doid:0112342
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
Spinal Chordoma	Chordoma Of Spine Vertebral Chordoma
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
Complex Partial Epilepsy	Epilepsy, Complex Partial Complex Partial Epileptic Seizure Epilepsy, Psychomotor Psychomotor Epilepsy
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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-181602	ATP Synthesis-IN-4		/	Unkown
HY-RS01237	ATP8A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01239	ATP8B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ATP8A1	VGNC	VGNC:70061
Bos taurus	ATP8A1	VGNC	VGNC:26329
Rattus norvegicus	ATP8A1	RGD	RGD:1309619
Felis catus	ATP8A1	VGNC	VGNC:60027
Mus musculus	ATP8A1	MGD	MGI:1330848
Canis familiaris	ATP8A1	VGNC	VGNC:38287
Others	ATP8A1	NCBI