ABCA12 Gene Summary [Human]
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ABCA12 |
| Official Name | ATP binding cassette subfamily A member 12 [Source:HGNC Symbol;Acc:HGNC:14637] |
| Ensembl ID | ENSG00000144452 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily A member 12 |
| Synonyms | 4832428G11, 4832428G11Rik, 4833417A11RIK, ARCI4A, ARCI4B, ATP binding cassette subfamily A member 12, ATP-binding cassette, sub-family A member 12, ICR2B, ICR5, LI2 |
| 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 ABCA12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nickel import ATP-binding protein NikD
- protein binding
- receptor binding
- nitrate transport ATP-binding subunits C and D
- heme ABC exporter, ATP-binding protein CcmA
- lipid transporter
- phosphonate C-P lyase system protein PhnK
- LPS export ABC transporter ATP-binding protein
- gallidermin-class lantibiotic protection ABC transporter, ATP-binding subunit
- retinal-specific rim ABC transporter
- nickel import ATP-binding protein NikE
- ABC transporter
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congestion
- harlequin ichthyosis
- autosomal recessive congenital ichthyosis type 4A
- ichthyosis
- organismal death
- lamellar ichthyosis
- dermatological disorder
- desquamation
- osteonecrosis
- lung adenocarcinoma
regulates
- cholesterol
- lipid
- ganglioside GM3
- d18:1/54:3 omega-O-linoleoyl-ceramide
- SFTP
- insulin
- d18:1/50:3 omega-O-linoleoyl-ceramide
- d18:1/50:3 omega-O-linoleoyl-glucosylceramide
- phospholipid
- glucosylceramide
role in cell
- synthesis in
- activation in
- cell death
- fusion
- differentiation
- quantity
- abnormal morphology
- fusion in
- polymerization in
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
- Cytoplasm
- cellular membrane
- secretory granule membrane
- cytosol
- Golgi membrane
- alveolar epithelial lamellar bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCA12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of insulin secretion involved in cellular response to glucose stimulus
- skin morphogenesis
- intracellular protein transport
- surfactant homeostasis
- establishment of skin barrier
- lung alveolus development
- regulated secretory pathway
- lipid translocation
- positive regulation of cholesterol efflux
- secretion by cell
- cellular homeostasis
- regulation of keratinocyte differentiation
- transmembrane transport
- positive regulation of protein localization at cell surface
- lipid homeostasis
- ceramide metabolic process
- lipid transport
- corneocyte desquamation
- cholesterol efflux
- ceramide transport
- keratinization
- protein localization in plasma membrane
- phospholipid efflux
- positive regulation of intracellular lipid transport
Cellular Component
Where in the cell the gene product is active
- epidermal lamellar body membrane
- transport vesicle membrane
- cytoplasm
- intracellular membrane-bounded organelle
- membrane
- cytosol
- epidermal lamellar body
- Golgi membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- lipid-transporting ATPase activity
- ATPase activity, coupled to transmembrane movement of substances
- protein binding
- lipid transporter activity
- apolipoprotein A-I receptor binding
- receptor binding