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Protein

ATP-binding cassette sub-family C member 8

Gene

ABCC8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K+ channels and insulin release.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi713 – 720ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1378 – 1385ATP 2PROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATP-activated inward rectifier potassium channel activity Source: Reactome
  • ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
  • ATP binding Source: UniProtKB-KW
  • ion channel binding Source: BHF-UCL
  • potassium channel activity Source: UniProtKB
  • sulfonylurea receptor activity Source: InterPro

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor
Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1296025 ATP sensitive Potassium channels
R-HSA-422356 Regulation of insulin secretion
R-HSA-5683177 Defective ABCC8 can cause hypoglycemias and hyperglycemias

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q09428

Protein family/group databases

Transport Classification Database

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TCDBi
3.A.1.208.4 the atp-binding cassette (abc) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP-binding cassette sub-family C member 8
Alternative name(s):
Sulfonylurea receptor 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCC8
Synonyms:HRINS, SUR, SUR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000006071.11

Human Gene Nomenclature Database

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HGNCi
HGNC:59 ABCC8

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600509 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q09428

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 34ExtracellularBy similarityAdd BLAST34
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei35 – 55Helical; Name=1PROSITE-ProRule annotationAdd BLAST21
Topological domaini56 – 75CytoplasmicBy similarityAdd BLAST20
Transmembranei76 – 96Helical; Name=2PROSITE-ProRule annotationAdd BLAST21
Topological domaini97 – 101ExtracellularBy similarity5
Transmembranei102 – 122Helical; Name=3PROSITE-ProRule annotationAdd BLAST21
Topological domaini123 – 134CytoplasmicBy similarityAdd BLAST12
Transmembranei135 – 154Helical; Name=4PROSITE-ProRule annotationAdd BLAST20
Topological domaini155 – 167ExtracellularBy similarityAdd BLAST13
Transmembranei168 – 194Helical; Name=5PROSITE-ProRule annotationAdd BLAST27
Topological domaini195 – 311CytoplasmicBy similarityAdd BLAST117
Transmembranei312 – 331Helical; Name=6PROSITE-ProRule annotationAdd BLAST20
Topological domaini332 – 355ExtracellularBy similarityAdd BLAST24
Transmembranei356 – 376Helical; Name=7PROSITE-ProRule annotationAdd BLAST21
Topological domaini377 – 434CytoplasmicBy similarityAdd BLAST58
Transmembranei435 – 455Helical; Name=8PROSITE-ProRule annotationAdd BLAST21
Topological domaini456 – 458ExtracellularBy similarity3
Transmembranei459 – 479Helical; Name=9PROSITE-ProRule annotationAdd BLAST21
Topological domaini480 – 541CytoplasmicBy similarityAdd BLAST62
Transmembranei542 – 562Helical; Name=10PROSITE-ProRule annotationAdd BLAST21
Topological domaini563 – 584ExtracellularBy similarityAdd BLAST22
Transmembranei585 – 605Helical; Name=11PROSITE-ProRule annotationAdd BLAST21
Topological domaini606 – 1004CytoplasmicBy similarityAdd BLAST399
Transmembranei1005 – 1025Helical; Name=12PROSITE-ProRule annotationAdd BLAST21
Topological domaini1026 – 1072ExtracellularBy similarityAdd BLAST47
Transmembranei1073 – 1093Helical; Name=13PROSITE-ProRule annotationAdd BLAST21
Topological domaini1094 – 1137CytoplasmicBy similarityAdd BLAST44
Transmembranei1138 – 1158Helical; Name=14PROSITE-ProRule annotationAdd BLAST21
Topological domaini1159ExtracellularBy similarity1
Transmembranei1160 – 1180Helical; Name=15PROSITE-ProRule annotationAdd BLAST21
Topological domaini1181 – 1251CytoplasmicBy similarityAdd BLAST71
Transmembranei1252 – 1272Helical; Name=16PROSITE-ProRule annotationAdd BLAST21
Topological domaini1273 – 1276ExtracellularBy similarity4
Transmembranei1277 – 1297Helical; Name=17PROSITE-ProRule annotationAdd BLAST21
Topological domaini1298 – 1581CytoplasmicBy similarityAdd BLAST284

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Leucine-induced hypoglycemia (LIH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:240800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0297841352R → H in LIH; partially impairs ATP-dependent potassium channel function. 1 PublicationCorresponds to variant dbSNP:rs28936370Ensembl.1
Familial hyperinsulinemic hypoglycemia 1 (HHF1)21 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMost common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.
See also OMIM:256450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0313497G → R in HHF1. 1 PublicationCorresponds to variant dbSNP:rs781059815Ensembl.1
Natural variantiVAR_03135021V → D in HHF1. 1 PublicationCorresponds to variant dbSNP:rs200670692EnsemblClinVar.1
Natural variantiVAR_03135127F → S in HHF1. 2 Publications1
Natural variantiVAR_03135270G → E in HHF1; altered intracellular trafficking. 1 Publication1
Natural variantiVAR_00863974R → Q in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559734EnsemblClinVar.1
Natural variantiVAR_03135374R → W in HHF1. 3 PublicationsCorresponds to variant dbSNP:rs201682634EnsemblClinVar.1
Natural variantiVAR_031355111G → R in HHF1; altered intracellular trafficking. 2 PublicationsCorresponds to variant dbSNP:rs761749884EnsemblClinVar.1
Natural variantiVAR_031356116A → P in HHF1. Corresponds to variant dbSNP:rs72559731Ensembl.1
Natural variantiVAR_008640125H → Q in HHF1; mild. 2 PublicationsCorresponds to variant dbSNP:rs60637558EnsemblClinVar.1
Natural variantiVAR_008641187V → D in HHF1; severe; high prevalence in Finland; loss of channel activity. 2 PublicationsCorresponds to variant dbSNP:rs137852672EnsemblClinVar.1
Natural variantiVAR_008642188N → S in HHF1; severe. 4 PublicationsCorresponds to variant dbSNP:rs797045213EnsemblClinVar.1
Natural variantiVAR_031357233M → R in HHF1. 1 Publication1
Natural variantiVAR_031358310D → N in HHF1. 1 PublicationCorresponds to variant dbSNP:rs769569410EnsemblClinVar.1
Natural variantiVAR_008644406N → D in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559728Ensembl.1
Natural variantiVAR_031359418C → R in HHF1. Corresponds to variant dbSNP:rs67254669EnsemblClinVar.1
Natural variantiVAR_031360495R → Q in HHF1. 1 Publication1
Natural variantiVAR_031361501E → K in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs372307320EnsemblClinVar.1
Natural variantiVAR_031362503L → P in HHF1. 1 Publication1
Natural variantiVAR_031363508L → P in HHF1. Corresponds to variant dbSNP:rs72559727Ensembl.1
Natural variantiVAR_072940511L → M in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 Publication1
Natural variantiVAR_031364551P → R in HHF1. 1 Publication1
Natural variantiVAR_008646591F → L in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs72559726Ensembl.1
Natural variantiVAR_031365620R → C in HHF1. Corresponds to variant dbSNP:rs58241708EnsemblClinVar.1
Natural variantiVAR_031366686F → S in HHF1. 2 Publications1
Natural variantiVAR_072941716G → D in HHF1. 1 Publication1
Natural variantiVAR_000100716G → V in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559723EnsemblClinVar.1
Natural variantiVAR_031367719K → T in HHF1. 1 Publication1
Natural variantiVAR_072942824E → K in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 Publication1
Natural variantiVAR_031368841R → G in HHF1. 1 Publication1
Natural variantiVAR_031369889K → T in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; reduced potassium channel response to activators such as MgADP or to diazoxide. 1 PublicationCorresponds to variant dbSNP:rs761862121EnsemblClinVar.1
Natural variantiVAR_072943890L → P in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 Publication1
Natural variantiVAR_031370956S → F in HHF1. Corresponds to variant dbSNP:rs72559721Ensembl.1
Natural variantiVAR_0313711130T → P in HHF1. 1 Publication1
Natural variantiVAR_0086491138T → M in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs201351976Ensembl.1
Natural variantiVAR_0313721147L → R in HHF1. 1 Publication1
Natural variantiVAR_0086501214R → Q in HHF1; severe. 3 PublicationsCorresponds to variant dbSNP:rs367850779Ensembl.1
Natural variantiVAR_0313731214R → W in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs139964066EnsemblClinVar.1
Natural variantiVAR_0313741295N → K in HHF1. 1 Publication1
Natural variantiVAR_0313751336K → N in HHF1. 1 PublicationCorresponds to variant dbSNP:rs67767715EnsemblClinVar.1
Natural variantiVAR_0313761342G → E in HHF1; altered intracellular trafficking. 1 Publication1
Natural variantiVAR_0313771349L → Q in HHF1. 1 Publication1
Natural variantiVAR_0085371352R → P in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs28936370Ensembl.1
Natural variantiVAR_0150071360V → M in HHF1. 1
Natural variantiVAR_0086531378G → R in HHF1. 2 Publications1
Natural variantiVAR_0729461378G → S in HHF1; highly decreases cell membrane expression; highly reduced traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 PublicationCorresponds to variant dbSNP:rs925231098Ensembl.1
Natural variantiVAR_0086541381G → S in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs773448052EnsemblClinVar.1
Natural variantiVAR_0313781384K → Q in HHF1. 1 Publication1
Natural variantiVAR_0297861385Missing in HHF1; does not alter surface expression but channels are not functional. 1 Publication1
Natural variantiVAR_0313791386S → F in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559718EnsemblClinVar.1
Natural variantiVAR_0085381387Missing in HHF1; severe; high frequency in Ashkenazi Jewish patients; defective trafficking and lack of surface expression. 6 Publications1
Natural variantiVAR_0729471388S → Y in HHF1. 1 Publication1
Natural variantiVAR_0729481389L → P in HHF1. 1 Publication1
Natural variantiVAR_0086551393R → H in HHF1; severe; loss of channel activity. 2 PublicationsCorresponds to variant dbSNP:rs769279368EnsemblClinVar.1
Natural variantiVAR_0313811418R → H in HHF1; altered intracellular trafficking. 2 PublicationsCorresponds to variant dbSNP:rs1446306735Ensembl.1
Natural variantiVAR_0085391420R → C in HHF1; modest impairment of channel function. 3 PublicationsCorresponds to variant dbSNP:rs28938469Ensembl.1
Natural variantiVAR_0150081436R → Q in HHF1; cannot form a functional channel, due to protein instability or defective transport to the membrane. 1 PublicationCorresponds to variant dbSNP:rs387906407Ensembl.1
Natural variantiVAR_0313821450L → P in HHF1. 1 Publication1
Natural variantiVAR_0313831457A → T in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559717Ensembl.1
Natural variantiVAR_0729491457A → V in HHF1. 1 Publication1
Natural variantiVAR_0313841471D → H in HHF1. 1 Publication1
Natural variantiVAR_0313851471D → N in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559716EnsemblClinVar.1
Natural variantiVAR_0086561478G → R in HHF1; channels insensitive to metabolic inhibition and to activation by ADP. 1 PublicationCorresponds to variant dbSNP:rs72559715EnsemblClinVar.1
Natural variantiVAR_0729501480N → I in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 Publication1
Natural variantiVAR_0313861486R → K in HHF1. 1 Publication1
Natural variantiVAR_0313871493R → Q in HHF1. 1 PublicationCorresponds to variant dbSNP:rs746480424EnsemblClinVar.1
Natural variantiVAR_0085401493R → W in HHF1; altered intracellular trafficking. 3 PublicationsCorresponds to variant dbSNP:rs28936371EnsemblClinVar.1
Natural variantiVAR_0729511505D → E in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 Publication1
Natural variantiVAR_0150091506E → K in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP. 2 PublicationsCorresponds to variant dbSNP:rs137852671Ensembl.1
Natural variantiVAR_0086571507A → AAS in HHF1. 1
Natural variantiVAR_0729521511I → S in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 Publication1
Natural variantiVAR_0150101543L → P in HHF1; reduced channels surface expression and response to ADP. 1 PublicationCorresponds to variant dbSNP:rs72559713EnsemblClinVar.1
Natural variantiVAR_0313881550V → D in HHF1. 1 PublicationCorresponds to variant dbSNP:rs1221760584Ensembl.1
Natural variantiVAR_0313891551L → V in HHF1. 1 Publication1
Diabetes mellitus, permanent neonatal (PNDM)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:606176
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07292845P → L in PNDM; compound heterozygous with R-1400. 1 PublicationCorresponds to variant dbSNP:rs267606623EnsemblClinVar.1
Natural variantiVAR_07292972N → S in PNDM; mosaic. 1 PublicationCorresponds to variant dbSNP:rs80356634EnsemblClinVar.1
Natural variantiVAR_03135486V → A in PNDM. 2 PublicationsCorresponds to variant dbSNP:rs193929360EnsemblClinVar.1
Natural variantiVAR_07293086V → G in PNDM. 1 PublicationCorresponds to variant dbSNP:rs193929360EnsemblClinVar.1
Natural variantiVAR_029778132F → L in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current. 2 PublicationsCorresponds to variant dbSNP:rs80356637EnsemblClinVar.1
Natural variantiVAR_072931132F → V in PNDM. 1 PublicationCorresponds to variant dbSNP:rs80356637EnsemblClinVar.1
Natural variantiVAR_072932207P → S in PNDM; reduced inhibition by ATP. 1 Publication1
Natural variantiVAR_072933208E → K in PNDM; compound heterozygous with D-263. 1 Publication1
Natural variantiVAR_072934209D → E in PNDM. 1 PublicationCorresponds to variant dbSNP:rs80356640EnsemblClinVar.1
Natural variantiVAR_072935211Q → K in PNDM. 1 PublicationCorresponds to variant dbSNP:rs193929366EnsemblClinVar.1
Natural variantiVAR_029779213L → R in PNDM. 1 PublicationCorresponds to variant dbSNP:rs80356642EnsemblClinVar.1
Natural variantiVAR_072936225L → P in PNDM. 1 PublicationCorresponds to variant dbSNP:rs1048095EnsemblClinVar.1
Natural variantiVAR_072937229T → I in PNDM; compound heterozygous with L-1523; highly reduced inhibition by ATP when associated with L-1523. 1 PublicationCorresponds to variant dbSNP:rs768017509EnsemblClinVar.1
Natural variantiVAR_072938263Y → D in PNDM; compound heterozygous with K-208. 1 PublicationCorresponds to variant dbSNP:rs778892038Ensembl.1
Natural variantiVAR_072939382E → K in PNDM. 1 PublicationCorresponds to variant dbSNP:rs80356651EnsemblClinVar.1
Natural variantiVAR_0729441184A → E in PNDM; slightly reduced inhibition by ATP. 1 PublicationCorresponds to variant dbSNP:rs137852675Ensembl.1
Natural variantiVAR_0729451326E → K in PNDM. 1 PublicationCorresponds to variant dbSNP:rs200563930EnsemblClinVar.1
Natural variantiVAR_0297871424I → V in PNDM; overactive channel. 1 PublicationCorresponds to variant dbSNP:rs80356653EnsemblClinVar.1
Natural variantiVAR_0729531522V → L in PNDM; highly reduced inhibition by ATP when associated whith I-229. 1 Publication1
Transient neonatal diabetes mellitus 2 (TNDM2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionNeonatal 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.
See also OMIM:610374
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029780435C → R in TNDM2. 1 Publication1
Natural variantiVAR_029781582L → V in TNDM2. 1 PublicationCorresponds to variant dbSNP:rs137852674EnsemblClinVar.1
Natural variantiVAR_0297821023H → Y in TNDM2; overactive channel. 1 Publication1
Natural variantiVAR_0297831182R → Q in TNDM2. 1 PublicationCorresponds to variant dbSNP:rs193922400EnsemblClinVar.1
Natural variantiVAR_0297851379R → C in TNDM2. 1 PublicationCorresponds to variant dbSNP:rs137852673EnsemblClinVar.1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
6833

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ABCC8

MalaCards human disease database

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MalaCardsi
ABCC8
MIMi240800 phenotype
256450 phenotype
602485 phenotype
606176 phenotype
610374 phenotype

Open Targets

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OpenTargetsi
ENSG00000006071

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency
79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency
79134 DEND syndrome
276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
552 MODY
99885 Permanent neonatal diabetes mellitus
99886 Transient neonatal diabetes mellitus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24395

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2071

Drug and drug target database

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DrugBanki
DB00171 Adenosine triphosphate
DB00672 Chlorpropamide
DB01120 Gliclazide
DB00222 Glimepiride
DB01067 Glipizide
DB01251 Gliquidone
DB01016 Glyburide
DB01382 Glycodiazine
DB01252 Mitiglinide
DB00731 Nateglinide
DB00912 Repaglinide
DB00839 Tolazamide
DB01124 Tolbutamide

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2594

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ABCC8

Domain mapping of disease mutations (DMDM)

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DMDMi
311033501

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000934001 – 1581ATP-binding cassette sub-family C member 8Add BLAST1581

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi10N-linked (GlcNAc...) asparagineBy similarity1
Glycosylationi1049N-linked (GlcNAc...) asparagineBy similarity1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q09428

PeptideAtlas

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PeptideAtlasi
Q09428

PRoteomics IDEntifications database

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PRIDEi
Q09428

ProteomicsDB human proteome resource

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ProteomicsDBi
58720
58721 [Q09428-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q09428

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q09428

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000006071 Expressed in 125 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

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CleanExi
HS_ABCC8

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q09428 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q09428 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB011451
HPA042318

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with KCNJ11.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
KCNJ11Q146542EBI-15807650,EBI-2866553

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112700, 3 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-195 Inward rectifying potassium channel complex, Kir6.2-SUR1

Database of interacting proteins

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DIPi
DIP-58642N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q09428

Protein interaction database and analysis system

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IntActi
Q09428, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000374467

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q09428

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q09428

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q09428

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini299 – 602ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST304
Domaini679 – 929ABC transporter 1PROSITE-ProRule annotationAdd BLAST251
Domaini1012 – 1306ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST295
Domaini1344 – 1578ABC transporter 2PROSITE-ProRule annotationAdd BLAST235

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0054 Eukaryota
COG1132 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156626

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG101342

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q09428

KEGG Orthology (KO)

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KOi
K05032

Identification of Orthologs from Complete Genome Data

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OMAi
QGQASKY

Database of Orthologous Groups

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OrthoDBi
EOG091G00IN

Database for complete collections of gene phylogenies

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PhylomeDBi
Q09428

TreeFam database of animal gene trees

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TreeFami
TF105201

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.1560.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR000844 ABCC8
IPR027417 P-loop_NTPase
IPR000388 Sulphorea_rcpt

The PANTHER Classification System

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PANTHERi
PTHR24223:SF187 PTHR24223:SF187, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00664 ABC_membrane, 2 hits
PF00005 ABC_tran, 2 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01093 SULFNYLUR1
PR01092 SULFNYLUREAR

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00382 AAA, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50929 ABC_TM1F, 2 hits
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 34 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q09428-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG
60 70 80 90 100
WGSQSSKVHI HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE
110 120 130 140 150
SHHLHLYMPA GMAFMAAVTS VVYYHNIETS NFPKLLIALL VYWTLAFITK
160 170 180 190 200
TIKFVKFLDH AIGFSQLRFC LTGLLVILYG MLLLVEVNVI RVRRYIFFKT
210 220 230 240 250
PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA HKKPIDLRAI
260 270 280 290 300
GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV
310 320 330 340 350
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE
360 370 380 390 400
FLANAYVLAV LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM
410 420 430 440 450
HLSTSNLSMG EMTAGQICNL VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI
460 470 480 490 500
LLYYILGVSA LIGAAVIILL APVQYFVATK LSQAQRSTLE YSNERLKQTN
510 520 530 540 550
EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT SISIFMNTAI
560 570 580 590 600
PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST
610 620 630 640 650
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR
660 670 680 690 700
PAREDCRGLT GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT
710 720 730 740 750
IRIPRGQLTM IVGQVGCGKS SLLLAALGEM QKVSGAVFWS SLPDSEIGED
760 770 780 790 800
PSPERETATD LDIRKRGPVA YASQKPWLLN ATVEENIIFE SPFNKQRYKM
810 820 830 840 850
VIEACSLQPD IDILPHGDQT QIGERGINLS GGQRQRISVA RALYQHANVV
860 870 880 890 900
FLDDPFSALD IHLSDHLMQA GILELLRDDK RTVVLVTHKL QYLPHADWII
910 920 930 940 950
AMKDGTIQRE GTLKDFQRSE CQLFEHWKTL MNRQDQELEK ETVTERKATE
960 970 980 990 1000
PPQGLSRAMS SRDGLLQDEE EEEEEAAESE EDDNLSSMLH QRAEIPWRAC
1010 1020 1030 1040 1050
AKYLSSAGIL LLSLLVFSQL LKHMVLVAID YWLAKWTDSA LTLTPAARNC
1060 1070 1080 1090 1100
SLSQECTLDQ TVYAMVFTVL CSLGIVLCLV TSVTVEWTGL KVAKRLHRSL
1110 1120 1130 1140 1150
LNRIILAPMR FFETTPLGSI LNRFSSDCNT IDQHIPSTLE CLSRSTLLCV
1160 1170 1180 1190 1200
SALAVISYVT PVFLVALLPL AIVCYFIQKY FRVASRDLQQ LDDTTQLPLL
1210 1220 1230 1240 1250
SHFAETVEGL TTIRAFRYEA RFQQKLLEYT DSNNIASLFL TAANRWLEVR
1260 1270 1280 1290 1300
MEYIGACVVL IAAVTSISNS LHRELSAGLV GLGLTYALMV SNYLNWMVRN
1310 1320 1330 1340 1350
LADMELQLGA VKRIHGLLKT EAESYEGLLA PSLIPKNWPD QGKIQIQNLS
1360 1370 1380 1390 1400
VRYDSSLKPV LKHVNALIAP GQKIGICGRT GSGKSSFSLA FFRMVDTFEG
1410 1420 1430 1440 1450
HIIIDGIDIA KLPLHTLRSR LSIILQDPVL FSGTIRFNLD PERKCSDSTL
1460 1470 1480 1490 1500
WEALEIAQLK LVVKALPGGL DAIITEGGEN FSQGQRQLFC LARAFVRKTS
1510 1520 1530 1540 1550
IFIMDEATAS IDMATENILQ KVVMTAFADR TVVTIAHRVH TILSADLVIV
1560 1570 1580
LKRGAILEFD KPEKLLSRKD SVFASFVRAD K
Length:1,581
Mass (Da):176,992
Last modified:November 2, 2010 - v6
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i09CF2EC97899D1CE
GO
Isoform 2 (identifier: Q09428-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     740-740: S → SS

Show »
Length:1,582
Mass (Da):177,079
Checksum:i9DC018F3EE5B7176
GO
Isoform 3 (identifier: Q09428-3) [UniParc]FASTAAdd to basket
Also known as: SUR1Delta2

The sequence of this isoform differs from the canonical sequence as follows:
     51-1581: Missing.

Note: Abundant isoform with prodiabetic properties, predominant in heart.
Show »
Length:50
Mass (Da):5,468
Checksum:i01266271000A63FC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 34 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5D8A0A2R8Y5D8_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
1,581Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4V0A0A2R8Y4V0_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
1,603Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDG0A0A2R8YDG0_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
1,580Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6Q0A0A2R8Y6Q0_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
1,498Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGQ6A0A2R8YGQ6_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
680Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4Z4A0A2R8Y4Z4_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
1,570Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YHG6A0A2R8YHG6_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
933Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PK50E9PK50_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
997Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5X1A0A2R8Y5X1_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
726Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEE5A0A2R8YEE5_HUMAN
ATP-binding cassette sub-family C m...
ABCC8
980Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti30A → V in AAB02278 (Ref. 2) Curated1
Sequence conflicti30A → V in AAB02417 (Ref. 2) Curated1
Sequence conflicti30A → V in AAB02418 (Ref. 2) Curated1
Sequence conflicti157F → L in AAB36699 (Ref. 3) Curated1
Sequence conflicti157F → L in AAB36700 (Ref. 3) Curated1
Sequence conflicti163G → A in AAB02278 (Ref. 2) Curated1
Sequence conflicti163G → A in AAB02417 (Ref. 2) Curated1
Sequence conflicti163G → A in AAB02418 (Ref. 2) Curated1
Sequence conflicti167L → V in AAB02278 (Ref. 2) Curated1
Sequence conflicti167L → V in AAB02417 (Ref. 2) Curated1
Sequence conflicti167L → V in AAB02418 (Ref. 2) Curated1
Sequence conflicti256A → V in AAB36699 (Ref. 3) Curated1
Sequence conflicti256A → V in AAB36700 (Ref. 3) Curated1
Sequence conflicti487S → T in AAB02278 (Ref. 2) Curated1
Sequence conflicti487S → T in AAB02417 (Ref. 2) Curated1
Sequence conflicti487S → T in AAB02418 (Ref. 2) Curated1
Sequence conflicti1069 – 1070VL → AV in AAB02278 (Ref. 2) Curated2
Sequence conflicti1069 – 1070VL → AV in AAB02417 (Ref. 2) Curated2
Sequence conflicti1069 – 1070VL → AV in AAB02418 (Ref. 2) Curated2
Sequence conflicti1172I → V in AAB36699 (Ref. 3) Curated1
Sequence conflicti1172I → V in AAB36700 (Ref. 3) Curated1
Sequence conflicti1410A → R in AAB36699 (Ref. 3) Curated1
Sequence conflicti1410A → R in AAB36700 (Ref. 3) Curated1
Sequence conflicti1418R → P in AAB36699 (Ref. 3) Curated1
Sequence conflicti1418R → P in AAB36700 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0313497G → R in HHF1. 1 PublicationCorresponds to variant dbSNP:rs781059815Ensembl.1
Natural variantiVAR_03135021V → D in HHF1. 1 PublicationCorresponds to variant dbSNP:rs200670692EnsemblClinVar.1
Natural variantiVAR_03135127F → S in HHF1. 2 Publications1
Natural variantiVAR_07292845P → L in PNDM; compound heterozygous with R-1400. 1 PublicationCorresponds to variant dbSNP:rs267606623EnsemblClinVar.1
Natural variantiVAR_03135270G → E in HHF1; altered intracellular trafficking. 1 Publication1
Natural variantiVAR_07292972N → S in PNDM; mosaic. 1 PublicationCorresponds to variant dbSNP:rs80356634EnsemblClinVar.1
Natural variantiVAR_00863974R → Q in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559734EnsemblClinVar.1
Natural variantiVAR_03135374R → W in HHF1. 3 PublicationsCorresponds to variant dbSNP:rs201682634EnsemblClinVar.1
Natural variantiVAR_03135486V → A in PNDM. 2 PublicationsCorresponds to variant dbSNP:rs193929360EnsemblClinVar.1
Natural variantiVAR_07293086V → G in PNDM. 1 PublicationCorresponds to variant dbSNP:rs193929360EnsemblClinVar.1
Natural variantiVAR_029777104L → V. Corresponds to variant dbSNP:rs10400391Ensembl.1
Natural variantiVAR_031355111G → R in HHF1; altered intracellular trafficking. 2 PublicationsCorresponds to variant dbSNP:rs761749884EnsemblClinVar.1
Natural variantiVAR_031356116A → P in HHF1. Corresponds to variant dbSNP:rs72559731Ensembl.1
Natural variantiVAR_008640125H → Q in HHF1; mild. 2 PublicationsCorresponds to variant dbSNP:rs60637558EnsemblClinVar.1
Natural variantiVAR_029778132F → L in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current. 2 PublicationsCorresponds to variant dbSNP:rs80356637EnsemblClinVar.1
Natural variantiVAR_072931132F → V in PNDM. 1 PublicationCorresponds to variant dbSNP:rs80356637EnsemblClinVar.1
Natural variantiVAR_008641187V → D in HHF1; severe; high prevalence in Finland; loss of channel activity. 2 PublicationsCorresponds to variant dbSNP:rs137852672EnsemblClinVar.1
Natural variantiVAR_008642188N → S in HHF1; severe. 4 PublicationsCorresponds to variant dbSNP:rs797045213EnsemblClinVar.1
Natural variantiVAR_072932207P → S in PNDM; reduced inhibition by ATP. 1 Publication1
Natural variantiVAR_072933208E → K in PNDM; compound heterozygous with D-263. 1 Publication1
Natural variantiVAR_072934209D → E in PNDM. 1 PublicationCorresponds to variant dbSNP:rs80356640EnsemblClinVar.1
Natural variantiVAR_072935211Q → K in PNDM. 1 PublicationCorresponds to variant dbSNP:rs193929366EnsemblClinVar.1
Natural variantiVAR_029779213L → R in PNDM. 1 PublicationCorresponds to variant dbSNP:rs80356642EnsemblClinVar.1
Natural variantiVAR_072936225L → P in PNDM. 1 PublicationCorresponds to variant dbSNP:rs1048095EnsemblClinVar.1
Natural variantiVAR_072937229T → I in PNDM; compound heterozygous with L-1523; highly reduced inhibition by ATP when associated with L-1523. 1 PublicationCorresponds to variant dbSNP:rs768017509EnsemblClinVar.1
Natural variantiVAR_031357233M → R in HHF1. 1 Publication1
Natural variantiVAR_072938263Y → D in PNDM; compound heterozygous with K-208. 1 PublicationCorresponds to variant dbSNP:rs778892038Ensembl.1
Natural variantiVAR_008643275R → Q1 PublicationCorresponds to variant dbSNP:rs185040406EnsemblClinVar.1
Natural variantiVAR_031358310D → N in HHF1. 1 PublicationCorresponds to variant dbSNP:rs769569410EnsemblClinVar.1
Natural variantiVAR_072939382E → K in PNDM. 1 PublicationCorresponds to variant dbSNP:rs80356651EnsemblClinVar.1
Natural variantiVAR_008644406N → D in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559728Ensembl.1
Natural variantiVAR_031359418C → R in HHF1. Corresponds to variant dbSNP:rs67254669EnsemblClinVar.1
Natural variantiVAR_029780435C → R in TNDM2. 1 Publication1
Natural variantiVAR_031360495R → Q in HHF1. 1 Publication1
Natural variantiVAR_031361501E → K in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs372307320EnsemblClinVar.1
Natural variantiVAR_031362503L → P in HHF1. 1 Publication1
Natural variantiVAR_031363508L → P in HHF1. Corresponds to variant dbSNP:rs72559727Ensembl.1
Natural variantiVAR_072940511L → M in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 Publication1
Natural variantiVAR_031364551P → R in HHF1. 1 Publication1
Natural variantiVAR_008645560V → M1 PublicationCorresponds to variant dbSNP:rs4148619EnsemblClinVar.1
Natural variantiVAR_029781582L → V in TNDM2. 1 PublicationCorresponds to variant dbSNP:rs137852674EnsemblClinVar.1
Natural variantiVAR_008646591F → L in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs72559726Ensembl.1
Natural variantiVAR_031365620R → C in HHF1. Corresponds to variant dbSNP:rs58241708EnsemblClinVar.1
Natural variantiVAR_015006673D → N1 PublicationCorresponds to variant dbSNP:rs777986828Ensembl.1
Natural variantiVAR_031366686F → S in HHF1. 2 Publications1
Natural variantiVAR_072941716G → D in HHF1. 1 Publication1
Natural variantiVAR_000100716G → V in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559723EnsemblClinVar.1
Natural variantiVAR_031367719K → T in HHF1. 1 Publication1
Natural variantiVAR_008647810D → N1 PublicationCorresponds to variant dbSNP:rs767572066Ensembl.1
Natural variantiVAR_072942824E → K in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 Publication1
Natural variantiVAR_008648834R → C1 PublicationCorresponds to variant dbSNP:rs140068774EnsemblClinVar.1
Natural variantiVAR_031368841R → G in HHF1. 1 Publication1
Natural variantiVAR_031369889K → T in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; reduced potassium channel response to activators such as MgADP or to diazoxide. 1 PublicationCorresponds to variant dbSNP:rs761862121EnsemblClinVar.1
Natural variantiVAR_072943890L → P in HHF1; no effect on cell membrane expression; no effect on traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 Publication1
Natural variantiVAR_031370956S → F in HHF1. Corresponds to variant dbSNP:rs72559721Ensembl.1
Natural variantiVAR_0297821023H → Y in TNDM2; overactive channel. 1 Publication1
Natural variantiVAR_0313711130T → P in HHF1. 1 Publication1
Natural variantiVAR_0086491138T → M in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs201351976Ensembl.1
Natural variantiVAR_0313721147L → R in HHF1. 1 Publication1
Natural variantiVAR_0297831182R → Q in TNDM2. 1 PublicationCorresponds to variant dbSNP:rs193922400EnsemblClinVar.1
Natural variantiVAR_0729441184A → E in PNDM; slightly reduced inhibition by ATP. 1 PublicationCorresponds to variant dbSNP:rs137852675Ensembl.1
Natural variantiVAR_0086501214R → Q in HHF1; severe. 3 PublicationsCorresponds to variant dbSNP:rs367850779Ensembl.1
Natural variantiVAR_0313731214R → W in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs139964066EnsemblClinVar.1
Natural variantiVAR_0313741295N → K in HHF1. 1 Publication1
Natural variantiVAR_0729451326E → K in PNDM. 1 PublicationCorresponds to variant dbSNP:rs200563930EnsemblClinVar.1
Natural variantiVAR_0313751336K → N in HHF1. 1 PublicationCorresponds to variant dbSNP:rs67767715EnsemblClinVar.1
Natural variantiVAR_0313761342G → E in HHF1; altered intracellular trafficking. 1 Publication1
Natural variantiVAR_0313771349L → Q in HHF1. 1 Publication1
Natural variantiVAR_0297841352R → H in LIH; partially impairs ATP-dependent potassium channel function. 1 PublicationCorresponds to variant dbSNP:rs28936370Ensembl.1
Natural variantiVAR_0085371352R → P in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs28936370Ensembl.1
Natural variantiVAR_0086511360V → G1 Publication1
Natural variantiVAR_0150071360V → M in HHF1. 1
Natural variantiVAR_0086521369A → S12 PublicationsCorresponds to variant dbSNP:rs757110EnsemblClinVar.1
Natural variantiVAR_0086531378G → R in HHF1. 2 Publications1
Natural variantiVAR_0729461378G → S in HHF1; highly decreases cell membrane expression; highly reduced traffic efficiency; dramatically reduced potassium channel response to activators such as MgADP or to diazoxide. 1 PublicationCorresponds to variant dbSNP:rs925231098Ensembl.1
Natural variantiVAR_0297851379R → C in TNDM2. 1 PublicationCorresponds to variant dbSNP:rs137852673EnsemblClinVar.1
Natural variantiVAR_0086541381G → S in HHF1. 2 PublicationsCorresponds to variant dbSNP:rs773448052EnsemblClinVar.1
Natural variantiVAR_0313781384K → Q in HHF1. 1 Publication1
Natural variantiVAR_0297861385Missing in HHF1; does not alter surface expression but channels are not functional. 1 Publication1
Natural variantiVAR_0313791386S → F in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559718EnsemblClinVar.1
Natural variantiVAR_0085381387Missing in HHF1; severe; high frequency in Ashkenazi Jewish patients; defective trafficking and lack of surface expression. 6 Publications1
Natural variantiVAR_0729471388S → Y in HHF1. 1 Publication1
Natural variantiVAR_0729481389L → P in HHF1. 1 Publication1
Natural variantiVAR_0086551393R → H in HHF1; severe; loss of channel activity. 2 PublicationsCorresponds to variant dbSNP:rs769279368EnsemblClinVar.1
Natural variantiVAR_0313801400G → R in HHF1 and PNDM; compound heterozygous with L-45 in PNDM. 2 PublicationsCorresponds to variant dbSNP:rs137852676EnsemblClinVar.1
Natural variantiVAR_0313811418R → H in HHF1; altered intracellular trafficking. 2 PublicationsCorresponds to variant dbSNP:rs1446306735Ensembl.1
Natural variantiVAR_0085391420R → C in HHF1; modest impairment of channel function. 3 PublicationsCorresponds to variant dbSNP:rs28938469Ensembl.1
Natural variantiVAR_0297871424I → V in PNDM; overactive channel. 1 PublicationCorresponds to variant dbSNP:rs80356653EnsemblClinVar.1
Natural variantiVAR_0150081436R → Q in HHF1; cannot form a functional channel, due to protein instability or defective transport to the membrane. 1 PublicationCorresponds to variant dbSNP:rs387906407Ensembl.1
Natural variantiVAR_0313821450L → P in HHF1. 1 Publication1
Natural variantiVAR_0313831457A → T in HHF1. 1 PublicationCorresponds to variant dbSNP:rs72559717Ensembl.1
Natural variantiVAR_0729491457A → V in HHF1. 1 Publication