ATP8B1 Gene Summary [Human]
This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ATP8B1 |
| Official Name | ATPase phospholipid transporting 8B1 [Source:HGNC Symbol;Acc:HGNC:3706] |
| Ensembl ID | ENSG00000081923 |
| Bio databases IDs | |
| Aliases | ATPase phospholipid transporting 8B1 |
| Synonyms | AI451886, Atp8b1 predicted, ATPase, class I, type 8B, member 1, ATPase phospholipid transporting 8B1, ATPIC, BRIC, FIC1, Ic, ICP1, PFIC, PFIC1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATP8B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- phospholipid transporter
- Phospholipid-translocating ATPase N-terminal
- protein binding
- ATPase, P-type (transporting), HAD superfamily, subfamily IC
- Phospholipid-translocating P-type ATPase C-terminal
- lipid transporter
- binding protein
- phosphatidylcholine transporter
- aminophospholipid transporter
- phospholipid-translocating P-type ATPase, flippase
- Cation transport ATPase (P-type)
- Haloacid Dehalogenase-like Hydrolases
- transporter
Pathways
Biological processes and signaling networks where the ATP8B1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight loss
- lung cancer
- benign recurrent intrahepatic cholestasis 1
- progressive familial intrahepatic cholestasis type 1
- intrahepatic cholestasis of pregnancy type 1
- progressive intrahepatic cholestasis
- cholelithiasis
- gallstone
- hereditary disorder
- familial intrahepatic cholestasis
role in cell
- expression in
- assembly
- downregulation in
- oxidative phosphorylation in
- degeneration
- organization
- overload in
- fragmentation in
- fragmentation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cochlear hair cell stereocilia
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- stereocilia
- apical cell surfaces
- apical membrane
- nucleoplasm
- nuclear bodies
- insulin secretory granules
- brush border
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP8B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Golgi organization
- ion transmembrane transport
- inner ear receptor cell development
- vestibulocochlear nerve formation
- bile acid metabolic process
- sensory perception of sound
- drug transmembrane transport
- negative regulation of transcription, DNA-dependent
- phospholipid translocation
- apical protein localization
- regulation of chloride transport
- regulation of microvillus assembly
- bile acid and bile salt transport
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- nuclear body
- cytosol
- endoplasmic reticulum
- Golgi apparatus
- stereocilium
- apical plasma membrane
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- ATPase activity
- ATP binding
- protein binding