UniProt Protein Function: | ATP8A2 iso1: Belongs to the cation transport ATPase (P-type) family. Type IV subfamily. 2 isoforms of the human protein are produced by alternative splicing.Protein type: Transporter, ion channel; Membrane protein, multi-pass; Hydrolase; EC 3.6.3.1; Cell cycle regulation; Membrane protein, integral; TransporterChromosomal Location of Human Ortholog: 13q12Cellular Component: Golgi apparatus; plasma membrane; trans-Golgi networkMolecular Function: phospholipid-translocating ATPase activityBiological Process: Golgi vesicle budding; negative regulation of cell proliferation; neuron developmentDisease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
UniProt Protein Details: | |
NCBI Summary: | The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] |
UniProt Code: | Q9NTI2 |
NCBI GenInfo Identifier: | 30316390 |
NCBI Gene ID: | 51761 |
NCBI Accession: | Q9NTI2.2 |
UniProt Secondary Accession: | Q9NTI2,Q9H527, Q9NPU6, Q9NTL2, Q9NYM3 |
UniProt Related Accession: | Q9NTI2 |
Molecular Weight: | 59,296 Da |
NCBI Full Name: | Phospholipid-transporting ATPase IB |
NCBI Synonym Full Names: | ATPase phospholipid transporting 8A2 |
NCBI Official Symbol: | ATP8A2Â Â |
NCBI Official Synonym Symbols: | IB; ATP; ML-1; ATPIB; CAMRQ4Â Â |
NCBI Protein Information: | phospholipid-transporting ATPase IB |
UniProt Protein Name: | Phospholipid-transporting ATPase IB |
UniProt Synonym Protein Names: | ATPase class I type 8A member 2; ML-1; P4-ATPase flippase complex alpha subunit ATP8A2 |
Protein Family: | Phospholipid-transporting ATPase |
UniProt Gene Name: | ATP8A2Â Â |
UniProt Entry Name: | AT8A2_HUMAN |