ATP-binding cassette sub-family C member 9

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. Can form a sulfonylurea-sensitive but ATP-insensitive potassium channel with KCNJ8 (By similarity).

Classification

Family (Pfam)

PF00664 ABC_membrane, PF00005 ABC_tran

InterPro

AAA+_ATPase, ABC1_TM_dom, ABC1_TM_sf, ABC_transporter-like_ATP-bd, ABC_transporter-like_CS, ABC_transporter_C-like, ABCC8/9, ABCC9, ABCC9_ATP-bd_dom1, P-loop_NTPase

Functional cluster

Serine/Threonine Protein Kinases

Gene Ontology · 25

• GO:0008282 inward rectifying potassium channel
• GO:0005739 mitochondrion
• GO:0005886 plasma membrane
• GO:0031004 potassium ion-transporting ATPase complex
• GO:0042383 sarcolemma
• GO:0030017 sarcomere
• GO:0140359 ABC-type transporter activity
• GO:0005524 ATP binding
• GO:0016887 ATP hydrolysis activity
• GO:0019829 ATPase-coupled monoatomic cation transmembrane transporter activity
• GO:0042626 ATPase-coupled transmembrane transporter activity
• GO:0099104 potassium channel activator activity
• GO:0005267 potassium channel activity
• GO:0015459 potassium channel regulator activity
• GO:0044877 protein-containing complex binding
• GO:0008281 sulfonylurea receptor activity
• GO:0044325 transmembrane transporter binding
• GO:0061337 cardiac conduction
• GO:0051607 defense response to virus
• GO:0098655 monoatomic cation transmembrane transport
• GO:1990573 potassium ion import across plasma membrane
• GO:0071805 potassium ion transmembrane transport
• GO:0033198 response to ATP
• GO:0055085 transmembrane transport
• GO:0150104 transport across blood-brain barrier

Disease associations

• hypertrichotic osteochondrodysplasia Cantu type MONDO:0009406
• dilated cardiomyopathy 1O MONDO:0012062
• atrial fibrillation, familial, 12 MONDO:0013545
• intellectual disability and myopathy syndrome MONDO:0859224

Drugs targeting this protein · 4

• PINACIDIL opener
• SARAKALIM opener
• NAMINIDIL opener
• MINOXIDIL opener

Related proteins · sequence + function similarity

• ATP-binding cassette sub-family C member 9 1.00
• ATP-binding cassette sub-family C member 9 0.99
• ATP-binding cassette sub-family C member 9 0.99
• ATP-binding cassette sub-family C member 8 0.91
• ATP-binding cassette sub-family C member 8 0.91
• ATP-binding cassette sub-family C member 8 0.91
• Metal resistance protein YCF1 0.88
• ATP-binding cassette sub-family C member Sur 0.88
• ABC transporter C family member 12 0.87
• ATP-binding cassette sub-family C member 2 0.87
• Multidrug resistance protein mrp-7 0.86
• ABC transporter C family member 11 0.86

Co-cited proteins · studied together in the literature

• ATP-binding cassette sub-family C member Sur 1 shared papers
• POU domain, class 3, transcription factor 3 1 shared papers
• ATP-sensitive inward rectifier potassium channel 11 1 shared papers

Literature · 11 cited papers

• ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9. Nat. Commun. · 2019
• De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Am. J. Hum. Genet. · 2019
• Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. J. Gen. Physiol. · 2015
• Dominant missense mutations in ABCC9 cause Cantu syndrome. Nat. Genet. · 2012
• Cantu syndrome is caused by mutations in ABCC9. Am. J. Hum. Genet. · 2012
• A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Mol. Psychiatry · 2013
• KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. Nat. Clin. Pract. Cardiovasc. Med. · 2007
• The finished DNA sequence of human chromosome 12. Nature · 2006
• ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat. Genet. · 2004
• Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells. Circ. Res. · 1998
• Toward understanding the assembly and structure of KATP channels. Physiol. Rev. · 1998