Sequence in raw or FASTA format:
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [Homo sapiens (human)]
|Entrez Gene ID||10060|
|Full Name||ATP-binding cassette, sub-family C (CFTR/MRP), member 9|
|Synonyms||ABC37, ATFB12, CANTU, CMD1O, SUR2|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011].|
Cardiomyopathy, dilated, 1O, 608569 (3)
|REACT_15518||Transmembrane transport of small molecules|
|REACT_15480||ABC-family proteins mediated transport|
|REACT_75775||ATP sensitive Potassium channels|
|REACT_75918||Inwardly rectifying K+ channels|
|Homo sapiens (human)||ABCC9||NP_005682.2|
|Pan troglodytes (chimpanzee)||ABCC9||XP_001149414.1|
|Macaca mulatta (Rhesus monkey)||ABCC9||XP_001098888.1|
|Canis lupus familiaris (dog)||ABCC9||XP_852746.1|
|Bos taurus (cattle)||ABCC9||XP_005207020.1|
|Mus musculus (house mouse)||Abcc9||NP_035641.1|
|Rattus norvegicus (Norway rat)||Abcc9||NP_037172.2|
|Gallus gallus (chicken)||ABCC9||XP_004938045.1|
|Danio rerio (zebrafish)||abcc9||NP_001025325.1|
|Drosophila melanogaster (fruit fly)||Sur||NP_477472.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||abcc9||XP_004920363.1|
|GO:0006200||ATP catabolic process||IEA|
|GO:0006813||potassium ion transport||TAS|
|GO:0010107||potassium ion import||ISS|
|GO:0051607||defense response to virus||IMP|
|GO:0008076||voltage-gated potassium channel complex||IDA|
|GO:0008282||ATP-sensitive potassium channel complex||ISS|
|GO:0005267||potassium channel activity||IEA|
|GO:0008281||sulfonylurea receptor activity||ISS|
|GO:0015459||potassium channel regulator activity||ISS|
|GO:0042626||ATPase activity, coupled to transmembrane movement of substances||IEA|
|GO:0044325||ion channel binding||IPI|
What is the normal function of the ABCC9 gene?
The ABCC9 gene provides instructions for making the sulfonylurea receptor 2 (SUR2) protein. This protein forms one part (subunit) of a channel that transports charged atoms of potassium (potassium ions) across cell membranes. Each of these channels consists of eight subunits: four SUR2 proteins and four proteins produced from either the KCNJ8 or KCNJ11 gene. The SUR2 subunits regulate the activity of the channel, determining whether it is open or closed.
Channels made with the SUR2 protein are known as ATP-sensitive potassium (K-ATP) channels. The channels open and close in response to the amount of ATP, the cell's main energy source, inside the cell. The resulting transport of potassium ions is part of a complex network of signals that relay chemical messages into and out of cells.
Although K-ATP channels are present in cells and tissues throughout the body, the highest levels of SUR2-containing channels are found in skeletal and heart (cardiac) muscle. These channels indirectly help regulate the concentration of calcium ions in cells. This regulation is essential for normal heart function. The function of these channels in other tissues is unclear.
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