ATP9A - ATPase phospholipid transporting 9A (putative) Gene

Homo sapiens

Also known as ATPIIA

Gene ID: 10079 | Gene type: protein coding

About ATP9A

Cytogenetic location: 20q13.2 Genomic coordinates (GRCh38): 20:51,596,514-51,768,390 (from NCBI)

This gene has 3 transcripts (splice variants), 209 orthologues and 13 paralogues. Broad expression in brain (RPKM 35.7), thyroid (RPKM 11.3) and 18 other tissues.

Summary

Enables protease binding activity. Involved in negative regulation of exosomal secretion; regulation of endocytic recycling; and regulation of retrograde transport, endosome to Golgi. Located in several cellular components, including endosome membrane; perinuclear region of cytoplasm; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022]

ATP9A Products(1)

mRNA	Protein	Name
NM_006045.3	NP_006036.1	probable phospholipid-transporting ATPase IIA

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protease binding	IPI IPI: Inferred from physical interaction	26094765	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	30213940	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of exosomal secretion	IMP IMP: Inferred from mutant phenotype	30947313	GOA
involved in regulation of endocytic recycling	IMP IMP: Inferred from mutant phenotype	27733620	GOA
involved in regulation of retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	30213940	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in early endosome	IDA IDA: Inferred from direct assay	21914794	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	27733620	GOA
located in late endosome	IDA IDA: Inferred from direct assay	36604604	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	21914794	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	30947313	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	21914794	GOA
located in recycling endosome membrane	IDA IDA: Inferred from direct assay	27733620	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	21914794	GOA
located in trans-Golgi network membrane	IDA IDA: Inferred from direct assay	27733620	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

ATP9A Protein Structure

E1-E2_ATPase

Hydrolase

0
200
400
600
800
1047 a.a.

Protein Preferred Names

Protein Names

probable phospholipid-transporting ATPase IIA

ATPase type IV, phospholipid-transporting (P-type),(putative)

Related Diseases

Diseases

Alias

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

Stereotypic Movement Disorder

Stereotypy Habit Disorder	Stereotyped Repetitive Movements
Stereotyped Disorder	Stereotypes Nos
Stereotype Habit Disorder

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS01241	ATP9A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ATP9A	RGD	RGD:621421
Mus musculus	ATP9A	MGD	MGI:1330826
Felis catus	ATP9A	VGNC	VGNC:79997
Macaca mulatta	ATP9A	VGNC	VGNC:84529

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