Version 5.4
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
IDBP-33859
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
IDBP-33863
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
IDBP-592985
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
IDBP-597818
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
IDBP-598825
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
IDBP-594860
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
IDBP-586963
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
IDBP-807038
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
ENSMUSG00000040136
View Gene Order
ENSBTAG00000000983
Not yet available
Pathways
NETPATH
REACTOME
REACT_15480
ABC-family proteins mediated transport pathway
REACT_75775
ATP sensitive Potassium channels pathway
REACT_18325
Regulation of insulin secretion pathway
REACT_1505
Integration of energy metabolism pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_13685
Neuronal System pathway
REACT_75918
Inwardly rectifying K+ channels pathway
REACT_75908
Potassium Channels pathway
REACT_111217
Metabolism pathway
KEGG
hsa02010
ABC transporters pathway
hsa04930
Type II diabetes mellitus pathway
INOH
PID NCI
hnf3bpathway
FOXA2 and FOXA3 transcription factor networks
Cross-References
SwissProt Q09428
TrEMBL E9PK50 Q59GM5
UniProt Splice Variant
Entrez Gene 6833
UniGene Hs.54470
RefSeq NM_000352 NM_001287174
HUGO HGNC:59
OMIM 600509
CCDS CCDS31437 CCDS73264
HPRD
IMGT
EMBL AB209084 AC124798 AF087138 HM635782 L40625 L78207 L78208 L78209 L78210 L78211 L78212 L78213 L78214 L78215 L78216 L78217 L78218 L78219 L78220 L78221 L78222 L78223 L78224 L78225 L78226 L78227 L78228 L78229 L78230 L78231 L78232 L78233 L78234 L78235 L78236 L78237 L78238 L78239 L78240 L78241 L78242 L78243 L78254 L78255 U63421 U63422 U63423 U63424 U63425 U63426 U63427 U63428 U63429 U63430 U63431 U63432 U63433 U63434 U63435 U63436 U63437 U63438 U63439 U63441 U63442 U63443 U63444 U63445 U63446 U63447 U63448 U63449 U63450 U63451 U63452 U63453 U63454 U63455
GenPept AAA99227 AAB02278 AAB02417 AAB02418 AAB36699 AAB36700 AAC36724 ADM67556 BAD92321
RNA Seq Atlas 6833

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca