InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCC9

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.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005524	ATP binding
GO:0008281	sulfonylurea receptor activity
GO:0015459	potassium channel regulator activity
GO:0016887	ATPase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances
GO:0044325	ion channel binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006810	transport
GO:0006813	potassium ion transport
GO:0007165	signal transduction
GO:0007268	synaptic transmission
GO:0010107	potassium ion import
GO:0051607	defense response to virus
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0008076	voltage-gated potassium channel complex
GO:0008282	ATP-sensitive potassium channel complex
GO:0016021	integral component of membrane

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

PFAM

PF00664
PF13748
PF00005

PRINTS

PR01092
PR01094

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt