2. Gene
  3. ATP8A1 - ATPase phospholipid transporting 8A1 Gene

ATP8A1 - ATPase phospholipid transporting 8A1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ATPIA; ATPP2; ATPASEII

Gene ID: 10396 | Gene type: protein coding

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

ATP8A1 Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (105 - 369)

HAD

HAD: haloacid dehalogenase-like hydrolase (406 - 810)

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  • 1164 a.a.
Protein Preferred Names Protein Names

phospholipid-transporting ATPase IA

ATPase II

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
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01237 ATP8A1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS01239 ATP8B1 Human Pre-designed siRNA Set A Pre-designed Sets / 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