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{{Infobox_gene}}
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'''ATP-binding cassette transporter sub-family C member 8''' is a [[protein]] that in humans is encoded by the ''ABCC8'' [[gene]].<ref name="pmid7920639">{{cite journal | vauthors = Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton PS, Stanley CA | title = Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene | journal = Nat Genet | volume = 7 | issue = 2 | pages = 185–8 |date=Nov 1994 | pmid = 7920639 | pmc =  | doi = 10.1038/ng0694-185 |display-authors=etal}}</ref><ref name="pmid7716548">{{cite journal | vauthors = Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J | title = Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy | journal = Science | volume = 268 | issue = 5209 | pages = 426–9 |date=May 1995 | pmid = 7716548 | pmc = | doi =10.1126/science.7716548  }}</ref> ''ABCC8'' [[orthologs]] <ref name="OrthoMaM">{{cite web | title = OrthoMaM phylogenetic marker: ABCC8 coding sequence | url = http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000006071_ABCC8.xml }}</ref> have been identified in all [[mammals]] for which complete genome data are available.
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = ATP-binding cassette, sub-family C (CFTR/MRP), member 8
| HGNCid = 59
| Symbol = ABCC8
| AltSymbols =; PHHI; MRP8; ABC36; HHF1; HI; HRINS; SUR; SUR1; TNDM2
| OMIM = 600509
| ECnumber =
| Homologene = 68048
| MGIid = 1352629
  | GeneAtlas_image1 = PBB_GE_ABCC8_210246_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008281 |text = sulfonylurea receptor activity}} {{GNF_GO|id=GO:0015079 |text = potassium ion transmembrane transporter activity}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}} {{GNF_GO|id=GO:0042626 |text = ATPase activity, coupled to transmembrane movement of substances}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006813 |text = potassium ion transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6833
    | Hs_Ensembl = ENSG00000006071
    | Hs_RefseqProtein = NP_000343
    | Hs_RefseqmRNA = NM_000352
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 17371009
    | Hs_GenLoc_end = 17455025
    | Hs_Uniprot = Q09428
    | Mm_EntrezGene = 20927
    | Mm_Ensembl = ENSMUSG00000040136
    | Mm_RefseqmRNA = NM_011510
    | Mm_RefseqProtein = NP_035640
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 45972565
    | Mm_GenLoc_end = 46048075
    | Mm_Uniprot = 
  }}
}}
'''ATP-binding cassette, sub-family C (CFTR/MRP), member 8''', also known as '''ABCC8''', is a human [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =
| summary_text = 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.<ref>{{cite web | title = Entrez Gene: ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6833| accessdate = }}</ref>
| summary_text = 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]] (neonatal diabetes), 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.<ref>{{cite web | title = Entrez Gene: ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6833| accessdate = }}</ref>
}}
}}


==See also==
==See also==
[[Sulfonylurea receptor]]
* [[ATP-binding cassette transporter]]
* [[Sulfonylurea receptor]]


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/books/NBK1375/  GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dmn  GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus]
* {{UCSC gene info|ABCC8}}


==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=Aguilar-Bryan L, Bryan J |title=Molecular biology of adenosine triphosphate-sensitive potassium channels. |journal=Endocr. Rev. |volume=20 |issue= 2 |pages= 101-35 |year= 1999 |pmid= 10204114 |doi=  }}
*{{Cite journal  | vauthors=Aguilar-Bryan L, Bryan J |title=Molecular biology of adenosine triphosphate-sensitive potassium channels. |journal=Endocr. Rev. |volume=20 |issue= 2 |pages= 101–35 |year= 1999 |pmid= 10204114 |doi=10.1210/er.20.2.101 }}
*{{cite journal  | author=Meissner T, Beinbrech B, Mayatepek E |title=Congenital hyperinsulinism: molecular basis of a heterogeneous disease. |journal=Hum. Mutat. |volume=13 |issue= 5 |pages= 351-61 |year= 1999 |pmid= 10338089 |doi= 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R }}
*{{Cite journal  | vauthors=Meissner T, Beinbrech B, Mayatepek E |title=Congenital hyperinsulinism: molecular basis of a heterogeneous disease. |journal=Hum. Mutat. |volume=13 |issue= 5 |pages= 351–61 |year= 1999 |pmid= 10338089 |doi= 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R }}
*{{cite journal  | author=Gloyn AL, Siddiqui J, Ellard S |title=Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |journal=Hum. Mutat. |volume=27 |issue= 3 |pages= 220-31 |year= 2006 |pmid= 16416420 |doi= 10.1002/humu.20292 }}
*{{Cite journal  | vauthors=Gloyn AL, Siddiqui J, Ellard S |title=Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |journal=Hum. Mutat. |volume=27 |issue= 3 |pages= 220–31 |year= 2006 |pmid= 16416420 |doi= 10.1002/humu.20292 }}
*{{cite journal  | author=Bryan J, Muñoz A, Zhang X, ''et al.'' |title=ABCC8 and ABCC9: ABC transporters that regulate K+ channels. |journal=Pflugers Arch. |volume=453 |issue= 5 |pages= 703-18 |year= 2007 |pmid= 16897043 |doi= 10.1007/s00424-006-0116-z }}
*{{Cite journal  | vauthors=Bryan J, Muñoz A, Zhang X |title=ABCC8 and ABCC9: ABC transporters that regulate K+ channels. |journal=Pflügers Arch. |volume=453 |issue= 5 |pages= 703–18 |year= 2007 |pmid= 16897043 |doi= 10.1007/s00424-006-0116-z |display-authors=etal}}
*{{cite journal  | author=Inagaki N, Gonoi T, Clement JP, ''et al.'' |title=Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. |journal=Science |volume=270 |issue= 5239 |pages= 1166-70 |year= 1996 |pmid= 7502040 |doi= }}
*{{Cite journal  | vauthors=Inagaki N, Gonoi T, Clement JP |title=Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. |journal=Science |volume=270 |issue= 5239 |pages= 1166–70 |year= 1996 |pmid= 7502040 |doi=10.1126/science.270.5239.1166  |display-authors=etal}}
*{{cite journal  | author=Aguilar-Bryan L, Nichols CG, Wechsler SW, ''et al.'' |title=Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. |journal=Science |volume=268 |issue= 5209 |pages= 423-6 |year= 1995 |pmid= 7716547 |doi=  }}
*{{Cite journal  | vauthors=Aguilar-Bryan L, Nichols CG, Wechsler SW |title=Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. |journal=Science |volume=268 |issue= 5209 |pages= 423–6 |year= 1995 |pmid= 7716547 |doi=10.1126/science.7716547 |display-authors=etal}}
*{{cite journal  | author=Thomas PM, Cote GJ, Wohllk N, ''et al.'' |title=Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Science |volume=268 |issue= 5209 |pages= 426-9 |year= 1995 |pmid= 7716548 |doi=  }}
*{{Cite journal  | vauthors=Thomas PM, Cote GJ, Hallman DM, Mathew PM |title=Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Am. J. Hum. Genet. |volume=56 |issue= 2 |pages= 416–21 |year= 1995 |pmid= 7847376 |doi= | pmc=1801118 }}
*{{cite journal  | author=Thomas PM, Cote GJ, Hallman DM, Mathew PM |title=Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Am. J. Hum. Genet. |volume=56 |issue= 2 |pages= 416-21 |year= 1995 |pmid= 7847376 |doi= }}
*{{Cite journal  | vauthors=Inagaki N, Gonoi T, Clement JP |title=A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels. |journal=Neuron |volume=16 |issue= 5 |pages= 1011–7 |year= 1996 |pmid= 8630239 |doi=10.1016/S0896-6273(00)80124-5  |display-authors=etal}}
*{{cite journal  | author=Glaser B, Chiu KC, Anker R, ''et al.'' |title=Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. |journal=Nat. Genet. |volume=7 |issue= 2 |pages= 185-8 |year= 1994 |pmid= 7920639 |doi= 10.1038/ng0694-185 }}
*{{Cite journal  | vauthors=Inoue H, Ferrer J, Welling CM |title=Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. |journal=Diabetes |volume=45 |issue= 6 |pages= 825–31 |year= 1996 |pmid= 8635661 |doi=10.2337/diabetes.45.6.825  |display-authors=etal}}
*{{cite journal  | author=Inagaki N, Gonoi T, Clement JP, ''et al.'' |title=A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels. |journal=Neuron |volume=16 |issue= 5 |pages= 1011-7 |year= 1996 |pmid= 8630239 |doi=  }}
*{{Cite journal  | vauthors=Nichols CG, Shyng SL, Nestorowicz A |title=Adenosine diphosphate as an intracellular regulator of insulin secretion. |journal=Science |volume=272 |issue= 5269 |pages= 1785–7 |year= 1996 |pmid= 8650576 |doi=10.1126/science.272.5269.1785 |display-authors=etal}}
*{{cite journal  | author=Inoue H, Ferrer J, Welling CM, ''et al.'' |title=Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. |journal=Diabetes |volume=45 |issue= 6 |pages= 825-31 |year= 1996 |pmid= 8635661 |doi=  }}
*{{Cite journal  | vauthors=Thomas PM, Wohllk N, Huang E |title=Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Am. J. Hum. Genet. |volume=59 |issue= 3 |pages= 510–8 |year= 1996 |pmid= 8751851 |doi=  | pmc=1914902  |display-authors=etal}}
*{{cite journal  | author=Nichols CG, Shyng SL, Nestorowicz A, ''et al.'' |title=Adenosine diphosphate as an intracellular regulator of insulin secretion. |journal=Science |volume=272 |issue= 5269 |pages= 1785-7 |year= 1996 |pmid= 8650576 |doi=  }}
*{{Cite journal  | vauthors=Nestorowicz A, Wilson BA, Schoor KP |title=Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. |journal=Hum. Mol. Genet. |volume=5 |issue= 11 |pages= 1813–22 |year= 1997 |pmid= 8923011 |doi=10.1093/hmg/5.11.1813 |display-authors=etal}}
*{{cite journal  | author=Thomas PM, Wohllk N, Huang E, ''et al.'' |title=Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Am. J. Hum. Genet. |volume=59 |issue= 3 |pages= 510-8 |year= 1996 |pmid= 8751851 |doi=  }}
*{{Cite journal  | vauthors=Dunne MJ, Kane C, Shepherd RM |title=Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. |journal=N. Engl. J. Med. |volume=336 |issue= 10 |pages= 703–6 |year= 1997 |pmid= 9041101 |doi=10.1056/NEJM199703063361005 |display-authors=etal}}
*{{cite journal  | author=Nestorowicz A, Wilson BA, Schoor KP, ''et al.'' |title=Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. |journal=Hum. Mol. Genet. |volume=5 |issue= 11 |pages= 1813-22 |year= 1997 |pmid= 8923011 |doi= }}
*{{Cite journal  | vauthors=Gribble FM, Tucker SJ, Ashcroft FM |title=The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide. |journal=EMBO J. |volume=16 |issue= 6 |pages= 1145–52 |year= 1997 |pmid= 9135131 |doi= 10.1093/emboj/16.6.1145  | pmc=1169713 }}
*{{cite journal  | author=Dunne MJ, Kane C, Shepherd RM, ''et al.'' |title=Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. |journal=N. Engl. J. Med. |volume=336 |issue= 10 |pages= 703-6 |year= 1997 |pmid= 9041101 |doi= }}
*{{Cite journal  | vauthors=Ohta Y, Tanizawa Y, Inoue H |title=Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM. |journal=Diabetes |volume=47 |issue= 3 |pages= 476–81 |year= 1998 |pmid= 9519757 |doi=10.2337/diabetes.47.3.476  |display-authors=etal}}
*{{cite journal  | author=Gribble FM, Tucker SJ, Ashcroft FM |title=The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide. |journal=EMBO J. |volume=16 |issue= 6 |pages= 1145-52 |year= 1997 |pmid= 9135131 |doi= 10.1093/emboj/16.6.1145 }}
*{{Cite journal  | vauthors=Hansen T, Echwald SM, Hansen L |title=Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene. |journal=Diabetes |volume=47 |issue= 4 |pages= 598–605 |year= 1998 |pmid= 9568693 |doi=10.2337/diabetes.47.4.598  |display-authors=etal}}
*{{cite journal  | author=Ohta Y, Tanizawa Y, Inoue H, ''et al.'' |title=Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM. |journal=Diabetes |volume=47 |issue= 3 |pages= 476-81 |year= 1998 |pmid= 9519757 |doi=  }}
*{{Cite journal  | vauthors=Nestorowicz A, Glaser B, Wilson BA |title=Genetic heterogeneity in familial hyperinsulinism. |journal=Hum. Mol. Genet. |volume=7 |issue= 7 |pages= 1119–28 |year= 1999 |pmid= 9618169 |doi=10.1093/hmg/7.7.1119 |display-authors=etal}}
*{{cite journal  | author=Hansen T, Echwald SM, Hansen L, ''et al.'' |title=Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene. |journal=Diabetes |volume=47 |issue= 4 |pages= 598-605 |year= 1998 |pmid= 9568693 |doi= }}
*{{Cite journal  | vauthors=Shyng SL, Ferrigni T, Shepard JB |title=Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. |journal=Diabetes |volume=47 |issue= 7 |pages= 1145–51 |year= 1998 |pmid= 9648840 |doi=10.2337/diabetes.47.7.1145  |display-authors=etal}}
*{{cite journal  | author=Nestorowicz A, Glaser B, Wilson BA, ''et al.'' |title=Genetic heterogeneity in familial hyperinsulinism. |journal=Hum. Mol. Genet. |volume=7 |issue= 7 |pages= 1119-28 |year= 1999 |pmid= 9618169 |doi=  }}
*{{cite journal  | author=Shyng SL, Ferrigni T, Shepard JB, ''et al.'' |title=Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. |journal=Diabetes |volume=47 |issue= 7 |pages= 1145-51 |year= 1998 |pmid= 9648840 |doi=  }}
}}
}}
{{refend}}
{{Refend}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{ABC transporters}}
 
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Latest revision as of 13:53, 14 August 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene.[1][2] ABCC8 orthologs [3] have been identified in all mammals for which complete genome data are available.

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 (neonatal diabetes), 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.[4]

See also

References

  1. ↑ Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton PS, Stanley CA, et al. (Nov 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nat Genet. 7 (2): 185–8. doi:10.1038/ng0694-185. PMID 7920639.
  2. ↑ Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J (May 1995). "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy". Science. 268 (5209): 426–9. doi:10.1126/science.7716548. PMID 7716548.
  3. ↑ "OrthoMaM phylogenetic marker: ABCC8 coding sequence".
  4. ↑ "Entrez Gene: ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8".

External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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