ABCA12
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ATP binding cassette subfamily A member 12 | MIM:607800 | Ensembl:ENSG00000144452 | HGNC:HGNC:14637 | PA29604 | 2q35 |
GO terms in ABCA12
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0006869 | lipid transport |
| BP | IDA | GO:0006869 | lipid transport |
| BP | NAS | GO:0006869 | lipid transport |
| BP | IDA | GO:0010875 | positive regulation of cholesterol efflux |
| BP | NAS | GO:0019725 | cellular homeostasis |
| BP | IEA | GO:0031424 | keratinization |
| BP | IMP | GO:0032940 | secretion by cell |
| BP | IMP | GO:0033700 | phospholipid efflux |
| BP | IEA | GO:0035627 | ceramide transport |
| BP | IEA | GO:0043129 | surfactant homeostasis |
| BP | IMP | GO:0045055 | regulated exocytosis |
| BP | IEA | GO:0048286 | lung alveolus development |
| BP | TAS | GO:0055085 | transmembrane transport |
| BP | IEA | GO:0055088 | lipid homeostasis |
| BP | IEA | GO:0061436 | establishment of skin barrier |
| BP | IDA | GO:0072659 | protein localization to plasma membrane |
| BP | IMP | GO:0072659 | protein localization to plasma membrane |
| BP | IEA | GO:2000010 | positive regulation of protein localization to cell surface |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | NAS | GO:0016021 | integral component of membrane |
| CC | IBA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IDA | GO:0097209 | epidermal lamellar body |
| MF | IPI | GO:0005102 | signaling receptor binding |
| MF | IDA | GO:0005319 | lipid transporter activity |
| MF | TAS | GO:0005319 | lipid transporter activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | NAS | GO:0005524 | ATP binding |
| MF | IC | GO:0034040 | lipid-transporting ATPase activity |
| MF | IPI | GO:0034191 | apolipoprotein A-I receptor binding |
| MF | IBA | GO:0042626 | ATPase activity, coupled to transmembrane movement of substances |
Gene expression in normal tissue: ABCA12
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABCA12
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa02010 | ABC transporters - Homo sapiens (human) |
| reactome | R-HSA-1369062 | ABC transporters in lipid homeostasis |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-382556 | ABC-family proteins mediated transport |
| reactome | R-HSA-5619084 | ABC transporter disorders |
| reactome | R-HSA-5619115 | Disorders of transmembrane transporters |
| reactome | R-HSA-5682294 | Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABCA12
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