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MIRAGE
ATP-binding cassette sub-family C member 9
Summary
- UniProt ID
- O60706
- Gene Symbol
-
- ABCC9
- SUR2
- Gene ID
- 10060
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- ATP-binding
- Alternative splicing
- Atrial fibrillation
- Cardiomyopathy
- Disease variant
- Glycoprotein
- Intellectual disability
- Receptor
- Reference proteome
- Repeat
- Transmembrane helix
- Transport
- Gene Ontology (GO)
| GO Term |
|---|
| membrane |
| sarcomere |
| sarcolemma |
| inward rectifying potassium channel |
| potassium ion-transporting ATPase complex |
| mitochondrion |
| plasma membrane |
Sequence
MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 9 | N-linked (GlcNAc...) asparagine |
|
||
| 326 | N-linked (GlcNAc...) asparagine |
|
||
| 330 | N-linked (GlcNAc...) asparagine |
|
||
| 333 | N-linked (GlcNAc...) asparagine |
|
||
| 334 | N-linked (GlcNAc...) asparagine |
|
||
| 495 |
|
|||
| 537 |
|
|||
| 539 |
|
G43417UB
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| ABC-family proteins mediated transport | Homo sapiens |
| ATP sensitive Potassium channels | Homo sapiens |
| Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome | Homo sapiens |
| Ion homeostasis | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050650 | familial atrial fibrillation | |
| DOID:0060569 | hypertrichotic osteochondrodysplasia Cantu type | |
| DOID:0070600 | intellectual disability and myopathy syndrome | |
| DOID:0110451 | dilated cardiomyopathy 1O | |
| DOID:12930 | dilated cardiomyopathy |
