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Protein Page:
ABCC9 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
ABCC9 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. Defects in ABCC9 are the cause of cardiomyopathy dilated type 1O (CMD1O); also known as dilated cardiomyopathy with ventricular tachycardia. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Defects in ABCC9 are the cause of familial atrial fibrillation type 12 (ATFB12). ATFB12 is 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. Defects in ABCC9 are the cause of hypertrichotic osteochondrodysplasia (HTOCD). 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. Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Transporter, ABC family; Transporter; Channel, potassium; Membrane protein, multi-pass
Cellular Component: voltage-gated potassium channel complex; sarcomere; ATP-sensitive potassium channel complex; plasma membrane; sarcolemma
Molecular Function: potassium channel regulator activity; potassium channel activity; sulfonylurea receptor activity; ATPase activity, coupled to transmembrane movement of substances; transporter activity; ATP binding
Biological Process: ATP catabolic process; synaptic transmission; potassium ion import; signal transduction; defense response to virus; transmembrane transport; potassium ion transport
Reference #:  O60706 (UniProtKB)
Alt. Names/Synonyms: ABC37; ABCC9; ATP-binding cassette sub-family C member 9; ATP-binding cassette transporter sub-family C member 9; ATP-binding cassette, sub-family C (CFTR/MRP), member 9; CMD1O; FLJ36852; Sulfonylurea receptor 2; sulfonylurea receptor 2A; SUR2
Gene Symbols: ABCC9
Molecular weight: 174,224 Da
Basal Isoelectric point: 7.05  Predict pI for various phosphorylation states
Select Structure to View Below

ABCC9

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 4 S237-p WMNTLIIsAHKKPID
0 1 K482 TKLAEAQKSTLDYST
2 0 T635 FESCKKHTGVQPKTI
0 3 S654 PGRYHLDSYEQSTRR
0 1 T771-p ATVEENItFGSPFNK
0 1 K863 LKFLQDDKRTLVLVT
0 1 K897 VLREGTLKDIQTKDV
0 1 S968 EDEDDNMSTVMRLRT
0 1 Y1321-p IHDLCVRyENNLKPV
0 1 K1326 VRyENNLKPVLKHVK
1 1 S1350-p GICGRTGsGKSSLSL
1 0 S1354 RTGsGKSSLSLAFFR
0 1 S1378-p VIDGIDIsKLPLHTL
0 1 S1387 LPLHTLRSRLSIILQ
2 0 S1390 HTLRSRLSIILQDPI
0 1 S1402 DPILFSGSIRFNLDP
0 1 T1414-p LDPECKCtDDRLWEA
0 1 K1432 AQLKNMVKSLPGGLD
2 0 S1468 RAFVRKSSILIMDEA
  mouse

 
S237-p WMNTLIIsAHRKPID
K480-ub TKLAEAQkSTLDYST
T633-p FESCKKHtGVQSKPI
S652-p PGRYHLDsYEQARRL
T768 ATVEENITFGSPFNR
K860-ub LKFLQDDkRTVVLVT
K894-ub VLREGTLkDIQTKDV
S965-p EDEEDNMsTVMRLRT
Y1318 IHDLCVRYENNLkPV
K1323-ub VRYENNLkPVLKHVK
S1347-p GICGRTGsGKSsLSL
S1351-p RTGsGKSsLSLAFFR
S1375 VIDGIDISKLPLHTL
S1384-p LPLHTLRsRLsIILQ
S1387-p HTLRsRLsIILQDPI
S1399-p DPILFSGsIRFNLDP
T1411 LDPECKCTDDRLWEA
K1429-ub AQLKNMVkSLPGGLD
S1465-p RAFVRKSsILIMDEA
  rat

 
S237 WMNTLIISAHRKPID
K479 TKLAEAQKSTLDYST
T632 FESCKKRTGVQSKPI
N651 PGRYHLDNYEQVRRL
T767 ATVEENITFGSSFNR
K859 LKFLQDDKRTVVLVT
K893 VLREGTLKDIQTKDV
S964 EDEDDNMSTVMRLRT
Y1317 IHDLCVRYENNLKPV
K1322 VRYENNLKPVLKHVK
S1346 GICGRTGSGKSSLSL
S1350 RTGSGKSSLSLAFFR
S1374 VIDGIDISKLPLHTL
S1383 LPLHTLRSRLSIILQ
S1386 HTLRSRLSIILQDPI
S1398 DPILFSGSIRFNLDP
T1410 LDPECKCTDDRLWEA
K1428 AQLKNMVKSLPGGLD
S1464 RAFVRKSSILIMDEA
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