Homo sapiens Protein: ABCC9 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-23111.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | ABCC9 | ||||||||||||||||||
Protein Name | ATP-binding cassette, sub-family C (CFTR/MRP), member 9 | ||||||||||||||||||
Synonyms | ABC37; ATFB12; CANTU; CMD1O; SUR2; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000261201 | ||||||||||||||||||
InnateDB Gene | IDBG-23107 (ABCC9) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation. {ECO:0000269PubMed:9831708}. | ||||||||||||||||||
Subcellular Localization | Membrane {ECO:0000255PROSITE- ProRule:PRU00441}; Multi-pass membrane protein {ECO:0000255PROSITE-ProRule:PRU00441}. | ||||||||||||||||||
Disease Associations | Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:15034580}. Note=The disease is caused by mutations affecting the gene represented in this entry.Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269PubMed:17245405}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]: A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. {ECO:0000269PubMed:22608503, ECO:0000269PubMed:22610116}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000388
Sulphonylurea receptor IPR001140 ABC transporter, transmembrane domain IPR001475 Sulphonylurea receptor, type 2 IPR003439 ABC transporter-like IPR003593 AAA+ ATPase domain IPR011527 ABC transporter type 1, transmembrane domain IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00664
PF13748 PF00005 |
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PRINTS |
PR01092
PR01094 |
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PIRSF | |||||||||||||||||||
SMART |
SM00382
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | O60706 | ||||||||||||||||||
PhosphoSite | PhosphoSite-O60706 | ||||||||||||||||||
TrEMBL | A0A024RAV7 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 10060 | ||||||||||||||||||
UniGene | Hs.732701 | ||||||||||||||||||
RefSeq | NP_005682 | ||||||||||||||||||
HUGO | HGNC:60 | ||||||||||||||||||
OMIM | 601439 | ||||||||||||||||||
CCDS | CCDS8694 | ||||||||||||||||||
HPRD | 03258 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC008250 AC084806 AF061289 AF061290 AF061291 AF061292 AF061293 AF061294 AF061295 AF061296 AF061297 AF061298 AF061299 AF061300 AF061301 AF061302 AF061303 AF061304 AF061305 AF061306 AF061307 AF061308 AF061309 AF061310 AF061311 AF061312 AF061313 AF061314 AF061315 AF061316 AF061317 AF061318 AF061319 AF061320 AF061321 AF061322 AF061323 AF061324 CH471094 | ||||||||||||||||||
GenPept | AAC16057 AAC16058 EAW96453 EAW96456 | ||||||||||||||||||