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