country

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

ATP9A - ATPase phospholipid transporting 9A (putative) Gene

Also Known as ATPIIA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10079

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	References	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	References	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	References	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
1000
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

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 Set	/	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