Homo sapiens Gene: ABCC8
Summary
InnateDB Gene IDBG-33857.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCC8
Gene 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 Gene ENSG00000006071
Encoded Proteins
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described. [provided by RefSeq, Jul 2008]
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:17392885-17476845
Strand Reverse strand
Band p15.1
Transcripts
ENST00000302539 ENSP00000303960
ENST00000389817 ENSP00000374467
ENST00000526037
ENST00000531642 ENSP00000435378
ENST00000526168 ENSP00000437233
ENST00000525022
ENST00000532220
ENST00000528374 ENSP00000433638
ENST00000527905 ENSP00000431653
ENST00000531891 ENSP00000434893
ENST00000531137
ENST00000524561
ENST00000526921
ENST00000529967
ENST00000530147
ENST00000531911
ENST00000532728
ENST00000528202
ENST00000526002
ENST00000612903 ENSP00000483031
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Integration of energy metabolism pathway
Transmembrane transport of small molecules pathway
ABC-family proteins mediated transport pathway
Neuronal System pathway
Inwardly rectifying K+ channels pathway
Potassium Channels pathway
Regulation of insulin secretion pathway
Metabolism pathway
ATP sensitive Potassium channels pathway
KEGG
ABC transporters pathway
Type II diabetes mellitus pathway
INOH
PID BIOCARTA
PID NCI
FOXA2 and FOXA3 transcription factor networks
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.54470
RefSeq NM_000352 NM_001287174
HUGO
OMIM
CCDS CCDS31437 CCDS73264
HPRD 02741
IMGT
EMBL
GenPept
RNA Seq Atlas