InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCC8

Summary

InnateDB Protein

IDBP-33859.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCC8

Protein Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

Synonyms

ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2;

Species

Homo sapiens

Ensembl Protein

ENSP00000303960

InnateDB Gene

IDBG-33857 (ABCC8)

Protein Structure

UniProt Annotation

Function

Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Leucine-induced hypoglycemia (LIH) [MIM:240800]: Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. {ECO:0000269PubMed:15356046}. Note=The disease is caused by mutations affecting the gene represented in this entry.Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269PubMed:10202168, ECO:0000269PubMed:10334322, ECO:0000269PubMed:12364426, ECO:0000269PubMed:12941782, ECO:0000269PubMed:15562009, ECO:0000269PubMed:15579781, ECO:0000269PubMed:15807877, ECO:0000269PubMed:16357843, ECO:0000269PubMed:16429405, ECO:0000269PubMed:8751851, ECO:0000269PubMed:8923011, ECO:0000269PubMed:9618169, ECO:0000269PubMed:9769320}. Note=The disease is caused by mutations affecting the gene represented in this entry.Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood- onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269PubMed:16613899, ECO:0000269PubMed:16885549, ECO:0000269PubMed:17213273}. Note=The disease is caused by mutations affecting the gene represented in this entry.Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence. {ECO:0000269PubMed:16885549}. 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 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005524	ATP binding
GO:0008281	sulfonylurea receptor activity
GO:0015079	potassium ion transmembrane transporter activity
GO:0016887	ATPase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances
GO:0044325	ion channel binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006112	energy reserve metabolic process
GO:0006200	ATP catabolic process
GO:0006810	transport
GO:0006813	potassium ion transport
GO:0007165	signal transduction
GO:0007268	synaptic transmission
GO:0044281	small molecule metabolic process
GO:0050796	regulation of insulin secretion
GO:0055085	transmembrane transport
GO:0071805	potassium ion transmembrane transport

Cellular Component

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

Protein Structure and Domains

PDB ID

InterPro

IPR000388 Sulphonylurea receptor
IPR000844 Sulphonylurea receptor, type 1
IPR001140 ABC transporter, transmembrane domain
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
PR01093

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt