Abca12 ATP-binding cassette, sub-family A member 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abca12provided by MGI
Official Full Name: ATP-binding cassette, sub-family A member 12provided by MGI
Primary source: MGI:MGI:2676312
See related: Ensembl:ENSMUSG00000050296 AllianceGenome:MGI:2676312
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 4832428G11Rik; 4833417A11Rik
Summary: 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; positive regulation of intracellular lipid transport; and regulation of insulin secretion involved in cellular response to glucose stimulus. Acts upstream of or within several processes, including positive regulation of cholesterol efflux; positive regulation of protein localization to cell surface; and skin development. Located in cytosol. Is expressed in adrenal gland; epidermis; and gland. 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, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 1 C3; 1 35.81 cM

Exon count:: 53

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (71282249..71454069, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (71243090..71414910, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Acute skin barrier disruption alters the secretion of lamellar bodies via the multilayered expression of ABCA12.
Title: Acute skin barrier disruption alters the secretion of lamellar bodies via the multilayered expression of ABCA12.
ABCA12 regulates insulin secretion from beta-cells.
Title: ABCA12 regulates insulin secretion from β-cells.
these findings suggest an essential role for ABCA12 in transferring not only lipids, which are required for the formation of multilamellar structures in the stratum corneum, but also proteolytic enzymes that are required for normal desquamation.
Title: Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
Data indicate that ABC transporter A family member 12 knockout (Abca12(-/-)) epidermis had 5-fold more beta-glucocerebrosidase (GCase) protein, and a 5-fold increase in GCase activity.
Title: Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier function.
ABCA12 mutations result in defective lipid transport via lamellar granules in the keratinocytes, leading to ichthyosis phenotypes from malformation of the stratum corneum lipid barrier.
Title: The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
ABCA12 regulates the cellular cholesterol metabolism via an LXRbeta-dependent posttranscriptional mechanism.
Title: ABCA12 regulates ABCA1-dependent cholesterol efflux from macrophages and the development of atherosclerosis.
Results indicate that disrupted keratinocyte differentiation during the fetal development is involved in the pathomechanism of HI and, during maturation, Abca12(-/-) epidermal keratinocytes regain normal differentiation processes.
Title: Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.
ABCA12 activity is required for the generation of long-chain ceramide esters that are essential for the development of normal skin structure and function
Title: ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.
Abca12 is a regulator of lipid transport and homeostasis.
Title: A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis.
ABCA12 plays pivotal roles in lung and skin barrier functions in Harlequin ichthyosis disease midel.
Title: Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Chemically induced (ENU) (3) 1 citation
Targeted (4) 1 citation

General gene information

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Markers

A659 (e-PCR)
- UniSTS:124715

Abca12 (e-PCR), detects polymorphism
- UniSTS:546609

AW742323 (e-PCR)
- UniSTS:207169

AW743021 (e-PCR)
- UniSTS:207170

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

27.MMHAP91FLA6.seq (e-PCR)
- UniSTS:123806

px-61b6 (e-PCR)
- UniSTS:258032

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled intramembrane lipid transporter activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables apolipoprotein A-I receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables apolipoprotein A-I receptor binding	ISO Inferred from Sequence Orthology more info
enables lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipid transporter activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ceramide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ceramide transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in corneocyte desquamation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in corneocyte desquamation	ISO Inferred from Sequence Orthology more info
acts_upstream_of establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within keratinization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid transport	ISO Inferred from Sequence Orthology more info
NOT acts_upstream_of_or_within lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid efflux	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cholesterol efflux	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol efflux	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of intracellular lipid transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in regulated exocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of keratinocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in secretion by cell	ISO Inferred from Sequence Orthology more info
NOT involved_in skin morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within surfactant homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within surfactant homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in epidermal lamellar body	ISO Inferred from Sequence Orthology more info
located_in epidermal lamellar body membrane	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: glucosylceramide transporter ABCA12

Names: ATP-binding cassette, sub-family A (ABC1), member 12

NP_780419.2

EC 7.6.2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_175210.3 → NP_780419.2 glucosylceramide transporter ABCA12

Status: VALIDATED

Source sequence(s)

AC107789, AC138589

Consensus CDS

CCDS48286.1

UniProtKB/Swiss-Prot

E9Q876

UniProtKB/TrEMBL

B2RY21

Related

ENSMUSP00000084523.6, ENSMUST00000087268.7

Conserved Domains (1) summary

TIGR01257
Location:749 → 2569

rim_protein; retinal-specific rim ABC transporter