ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [Homo sapiens (human)]
| Gene Symbol | ABCC9 |
| Entrez Gene ID | 10060 |
| Full Name | ATP-binding cassette, sub-family C (CFTR/MRP), member 9 |
| Synonyms | ABC37, CMD1O, FLJ36852, SUR2 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
12 12p12.1 |
| 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]. |
| Disorder | MIM: 601439 Cardiomyopathy, dilated, 1O, 608569 (3) |
| mRNA | NM_020297, 110832836 |
| Protein | NP_064693, 110832837 |
| Product | ATP-binding cassette sub-family C member 9 isoform SUR2B |
| RefSeq Status | REVIEWED |
| mRNA | NM_005691, 110832834 |
| Protein | NP_005682, 110832835 |
| Product | ATP-binding cassette sub-family C member 9 isoform SUR2A |
| RefSeq Status | REVIEWED |
| hsa02010 | ABC transporters |
| Homo sapiens (human) | ABCC9 | NP_064693.2 |
| Pan troglodytes (chimpanzee) | ABCC9 | XP_001149494.1 |
| Canis lupus familiaris (dog) | ABCC9 | XP_852746.1 |
| Bos taurus (cattle) | ABCC9 | XP_601202.4 |
| Mus musculus (house mouse) | Abcc9 | NP_035641.1 |
| Rattus norvegicus (Norway rat) | Abcc9 | NP_037172.2 |
| Danio rerio (zebrafish) | abcc9 | NP_001025325.1 |
| Drosophila melanogaster (fruit fly) | Sur | NP_477472.2 |
| ID | Name | Evidence |
| GO:0006813 | potassium ion transport | IEA |
| GO:0010107 | potassium ion import | ISS |
| GO:0051607 | defense response to virus | IMP |
| GO:0055085 | transmembrane transport | IEA |
Component
| ID | Name | Evidence |
| GO:0008282 | ATP-sensitive potassium channel complex | ISS |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0000166 | nucleotide binding | IEA |
| GO:0004872 | receptor activity | IEA |
| GO:0005215 | transporter activity | TAS |
| GO:0005524 | ATP binding | IEA |
| GO:0008281 | sulfonylurea receptor activity | ISS |
| GO:0015459 | potassium channel regulator activity | ISS |
| GO:0016887 | ATPase activity | IEA |
| GO:0042626 | ATPase activity, coupled to transmembrane movement of substances | IEA |
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