Abca12 Gene Summary [Mouse]

Predicted to enable ATPase-coupled transmembrane transporter activity; apolipoprotein A-I receptor binding activity; and lipid transporter activity. Involved in several processes, including corneocyte desquamation; establishment of skin barrier; and positive regulation of intracellular lipid transport. Acts upstream of or within several processes, including keratinization; positive regulation of cholesterol efflux; and positive regulation of protein localization to cell surface. Located in cytosol. Is expressed in several structures, including adrenal gland; gut; liver; lung; and skin. Used to study autosomal recessive congenital ichthyosis 4B. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 1; autosomal recessive congenital ichthyosis 4A; and autosomal recessive congenital ichthyosis 4B. Orthologous to human ABCA12 (ATP binding cassette subfamily A member 12). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Abca12
Official Name
ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]
Ensembl ID
ENSMUSG00000050296
Bio databases IDs NCBI: 74591 Ensembl: ENSMUSG00000050296
Aliases ATP-binding cassette, sub-family A (ABC1), 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
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse 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
regulated by
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 mouse 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

Gene-Specific Assays for Results You Can Trust

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