ATP10A - ATPase phospholipid transporting 10A (putative) Gene

Also Known as ATPVA; ATPVC; ATP10C

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57194

About ATP10A

Cytogenetic location: 15q12 Genomic coordinates (GRCh38): 15:25,672,237-25,865,088 (from NCBI)

This gene has 19 transcripts (splice variants), 214 orthologues, 13 paralogues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 2.8), lung (RPKM 2.6) and 23 other tissues.

Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]

ATP10A Products (1)

mRNA Protein Name
NM_024490.4 NP_077816.1 phospholipid-transporting ATPase VA

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables glycosylceramide flippase activity IDA
IDA: Inferred from direct assay
30530492 GOA
enables phosphatidylcholine flippase activity IDA
IDA: Inferred from direct assay
25947375 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21914794 GOA
Biological Process GO Annotation Evidence Références Source
involved in positive regulation of membrane tubulation IDA
IDA: Inferred from direct assay
29599178 GOA
Cellular Component GO Annotation Evidence Références 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
25947375 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

ATP10A Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (115 - 389)

HAD

HAD: haloacid dehalogenase-like hydrolase (424 - 1040)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1499 a.a.
Protein Preferred Names Protein Names

phospholipid-transporting ATPase VA

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

ATP10A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ATP10A O60312 TMEM30A Homo sapiens Q9NV96
Anti Tag CoIP
31571211
Intra
ATP10A O60312 TMEM30A Homo sapiens Q9NV96
Crosslink
25947375
Intra
ATP10A O60312 TMEM30A Homo sapiens Q9NV96
Anti Tag CoIP
25947375
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Angelman Syndrome Due To Imprinting Defect In 15q11-Q13
Angelman Syndrome

  • AS

  • Happy Puppet Syndrome

  • Happy Puppet Syndrome, Formerly

  • Puppetlike Syndrome
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
Autism Spectrum Disorder

  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
Prader-Willi Syndrome

  • Prader-Labhart-Willi Syndrome

  • PWS

  • Willi-Prader Syndrome

  • Prader-Willi Syndrome Due To Translocation

  • Prader-Willi Syndrome Due To Imprinting Mutation

  • Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

  • Prader Willi Syndrome

  • Upd(15)Mat
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. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS01171 ATP10A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ATP10A RGD RGD:1306150
Mus musculus ATP10A MGD MGI:1330809
Canis familiaris ATP10A VGNC VGNC:53148
Macaca mulatta ATP10A VGNC VGNC:107999
Felis catus ATP10A VGNC VGNC:81034
Others ATP10A NCBI