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    ABCA1 サマリー & タンパク質情報

    ABCA1 背景

    サブユニット構造: Interacts with MEGF10. {ECO:0000269|PubMed:17205124}.
    ドメイン: Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
    細胞内位置: Membrane {ECO:0000269|PubMed:19258317, ECO:0000269|PubMed:19556522}; Multi-pass membrane protein {ECO:0000269|PubMed:19258317, ECO:0000269|PubMed:19556522}.
    組織特異性: Widely expressed, but most abundant in macrophages.
    誘導: By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202. {ECO:0000269|PubMed:11279031, ECO:0000269|PubMed:12032171}.
    翻訳後: Phosphorylation on Ser-2054 regulates phospholipid efflux. {ECO:0000269|PubMed:12196520}.; Palmitoylation by DHHC8 is essential for membrane localization. {ECO:0000269|PubMed:19556522}.
    疾患関連性: DISEASE: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. {ECO:0000269|PubMed:10431236, ECO:0000269|PubMed:10431237, ECO:0000269|PubMed:10706591, ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11086027, ECO:0000269|PubMed:11257260, ECO:0000269|PubMed:11476961, ECO:0000269|PubMed:11476965, ECO:0000269|PubMed:11785958, ECO:0000269|PubMed:12111371, ECO:0000269|PubMed:12111381, ECO:0000269|PubMed:12407001, ECO:0000269|PubMed:14576201, ECO:0000269|PubMed:15019541, ECO:0000269|PubMed:15158913, ECO:0000269|PubMed:15262183, ECO:0000269|PubMed:15297675, ECO:0000269|PubMed:15520867}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. {ECO:0000269|PubMed:10431236, ECO:0000269|PubMed:10533863, ECO:0000269|PubMed:10938021, ECO:0000269|PubMed:11086027, ECO:0000269|PubMed:12009425, ECO:0000269|PubMed:12204794, ECO:0000269|PubMed:15722566}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    シーケンスの類似性: Belongs to the ABC transporter superfamily. ABCA family. {ECO:0000305}.; Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule:PRU00434}.
    General information above from UniProt

    ABCA1 代替名

    TGD,ABC1,CERP,ABC-1,HDLDT1, [homo-sapiens]
    Abc1,ABC-1, [mus-musculus]

    ABCA1 関連研究