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MGP000190

UniProt Annotations

Entry Information

Gene Name	ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Protein Entry	MRP6_HUMAN
UniProt ID	O95255
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95255-1; Sequence=Displayed; Name=2; Synonyms=URG7; IsoId=O95255-2; Sequence=VSP_047315, VSP_047316; Name=3; Synonyms=Delta19Delta24; IsoId=O95255-3; Sequence=VSP_057077, VSP_057078; Note=May function as a a half transporter.;
Disease	Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. {ECO:0000269\|PubMed:22209248}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. {ECO:0000269\|PubMed:10811882, ECO:0000269\|PubMed:10835642, ECO:0000269\|PubMed:10954200, ECO:0000269\|PubMed:11427982, ECO:0000269\|PubMed:11536079, ECO:0000269\|PubMed:11702217, ECO:0000269\|PubMed:15086542, ECO:0000269\|PubMed:15098239, ECO:0000269\|PubMed:15459974, ECO:0000269\|PubMed:16086317, ECO:0000269\|PubMed:17617515, ECO:0000269\|PubMed:19339160, ECO:0000269\|PubMed:20034067}. Note=The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype.
Function	Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS). {ECO:0000269\|PubMed:11880368}.
Function	Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases. {ECO:0000269\|PubMed:23912081}.
Induction	Isoform 2 is induced by HBV x antigen upon hepatitis B viral infection. {ECO:0000269\|PubMed:23912081}.
Sequence Caution	Sequence=AAC15785.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO:0000305}.
Similarity	Contains 2 ABC transmembrane type-1 domains. {ECO:0000255\|PROSITE-ProRule:PRU00441}.
Similarity	Contains 2 ABC transporter domains. {ECO:0000255\|PROSITE-ProRule:PRU00434}.
Subcellular Location	Isoform 1: Basolateral cell membrane {ECO:0000269\|PubMed:12901863, ECO:0000269\|PubMed:23625951}; Multi- pass membrane protein {ECO:0000255\|PROSITE-ProRule:PRU00441, ECO:0000269\|PubMed:12901863, ECO:0000269\|PubMed:23625951}.
Subcellular Location	Isoform 2: Endoplasmic reticulum membrane {ECO:0000269\|PubMed:23912081}; Single-pass membrane protein.
Tissue Specificity	Expressed in kidney and liver. Very low expression in other tissues.
Web Resource	Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95255";
Web Resource	Name=Mutations of the ABCC6 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/abcc6mut.htm";