Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Abca12. (This text reflects annotations as of Wednesday, August 14, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of October 17, 2012. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Abca12
  • is located in the following cellular components:
    • cytosol ^[3]
    • mitochondrial inner membrane ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Abca12
  • participates in the following biological processes:
    • ceramide transport ^[4]
    • establishment of skin barrier ^{[2, 3, 4]}
    • keratinization ^{[2, 3, 4]}
    • keratinocyte differentiation ^[2]
    • lipid homeostasis ^[2]
    • lung alveolus development ^[3]
    • surfactant homeostasis ^[3]

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Abca12 indicates that it:
  • performs the following molecular functions:
    • ATP binding
    • nucleotide binding
• Annotations directly to for the gene Abca12 indicate that MGI curators have found no experimental data [literature] to support further annotation to these categories at this time.

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References

1. Da Cruz S et al. (2003) Proteomic analysis of the mouse liver mitochondrial inner membrane. J Biol Chem, 278:41566-71. (PubMed:12865426)
2. Smyth I et al. (2008) A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. PLoS Genet, 4:e1000192. (PubMed:18802465)
3. Yanagi T et al. (2008) Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet, 17:3075-83. (PubMed:18632686)
4. Zuo Y et al. (2008) ABCA12 Maintains the Epidermal Lipid Permeability Barrier by Facilitating Formation of Ceramide Linoleic Esters. J Biol Chem, 283:36624-35. (PubMed:18957418)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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