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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-Experimental evidence at protein leveli

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
Nucleotide bindingi713 – 720ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1378 – 1385ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000006071-MONOMER.
ReactomeiR-HSA-1296025. ATP sensitive Potassium channels.
R-HSA-382556. ABC-family proteins mediated transport.
R-HSA-422356. Regulation of insulin secretion.
R-HSA-5683177. Defective ABCC8 can cause hypoglycemias and hyperglycemias.
SignaLinkiQ09428.

Protein family/group databases

TCDBi3.A.1.208.4. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family C member 8
Alternative name(s):
Sulfonylurea receptor 1
Gene namesi
Name:ABCC8
Synonyms:HRINS, SUR, SUR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:59. ABCC8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 34ExtracellularBy similarityAdd BLAST34
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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

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
Natural variantiVAR_0297841352R → H in LIH; partially impairs ATP-dependent potassium channel function. 1 PublicationCorresponds to variant rs28936370dbSNPEnsembl.1
Familial hyperinsulinemic hypoglycemia 1 (HHF1)15 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 Publication1
Natural variantiVAR_03135021V → D in HHF1. 1 PublicationCorresponds to variant rs200670692dbSNPEnsembl.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 rs72559734dbSNPEnsembl.1
Natural variantiVAR_03135374R → W in HHF1. 3 PublicationsCorresponds to variant rs201682634dbSNPEnsembl.1
Natural variantiVAR_031355111G → R in HHF1; altered intracellular trafficking. 2 PublicationsCorresponds to variant rs761749884dbSNPEnsembl.1
Natural variantiVAR_031356116A → P in HHF1. Corresponds to variant rs72559731dbSNPEnsembl.1
Natural variantiVAR_008640125H → Q in HHF1; mild. 2 PublicationsCorresponds to variant rs60637558dbSNPEnsembl.1
Natural variantiVAR_008641187V → D in HHF1; severe; high prevalence in Finland; loss of channel activity. 2 PublicationsCorresponds to variant rs137852672dbSNPEnsembl.1
Natural variantiVAR_008642188N → S in HHF1; severe. 4 Publications1
Natural variantiVAR_031357233M → R in HHF1. 1 Publication1
Natural variantiVAR_031358310D → N in HHF1. 1 PublicationCorresponds to variant rs769569410dbSNPEnsembl.1
Natural variantiVAR_008644406N → D in HHF1. 1 PublicationCorresponds to variant rs72559728dbSNPEnsembl.1
Natural variantiVAR_031359418C → R in HHF1. Corresponds to variant rs67254669dbSNPEnsembl.1
Natural variantiVAR_031360495R → Q in HHF1. 1 Publication1
Natural variantiVAR_031361501E → K in HHF1. 2 PublicationsCorresponds to variant rs372307320dbSNPEnsembl.1
Natural variantiVAR_031362503L → P in HHF1. 1 Publication1
Natural variantiVAR_031363508L → P in HHF1. Corresponds to variant rs72559727dbSNPEnsembl.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 rs72559726dbSNPEnsembl.1
Natural variantiVAR_031365620R → C in HHF1. Corresponds to variant rs58241708dbSNPEnsembl.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 rs72559723dbSNPEnsembl.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 rs761862121dbSNPEnsembl.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 rs72559721dbSNPEnsembl.1
Natural variantiVAR_0313711130T → P in HHF1. 1 Publication1
Natural variantiVAR_0086491138T → M in HHF1. 2 PublicationsCorresponds to variant rs201351976dbSNPEnsembl.1
Natural variantiVAR_0313721147L → R in HHF1. 1 Publication1
Natural variantiVAR_0086501214R → Q in HHF1; severe. 3 PublicationsCorresponds to variant rs367850779dbSNPEnsembl.1
Natural variantiVAR_0313731214R → W in HHF1. 2 PublicationsCorresponds to variant rs139964066dbSNPEnsembl.1
Natural variantiVAR_0313741295N → K in HHF1. 1 Publication1
Natural variantiVAR_0313751336K → N in HHF1. 1 PublicationCorresponds to variant rs67767715dbSNPEnsembl.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 rs28936370dbSNPEnsembl.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 Publication1
Natural variantiVAR_0086541381G → S in HHF1. 2 PublicationsCorresponds to variant rs773448052dbSNPEnsembl.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 rs72559718dbSNPEnsembl.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 rs769279368dbSNPEnsembl.1
Natural variantiVAR_0313801400G → R in HHF1 and PNDM; compound heterozygous with L-45 in PNDM. 2 PublicationsCorresponds to variant rs137852676dbSNPEnsembl.1
Natural variantiVAR_0313811418R → H in HHF1; altered intracellular trafficking. 2 Publications1
Natural variantiVAR_0085391420R → C in HHF1; modest impairment of channel function. 3 PublicationsCorresponds to variant rs28938469dbSNPEnsembl.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 rs387906407dbSNPEnsembl.1
Natural variantiVAR_0313821450L → P in HHF1. 1 Publication1
Natural variantiVAR_0313831457A → T in HHF1. 1 PublicationCorresponds to variant rs72559717dbSNPEnsembl.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 rs72559716dbSNPEnsembl.1
Natural variantiVAR_0086561478G → R in HHF1; channels insensitive to metabolic inhibition and to activation by ADP. 1 PublicationCorresponds to variant rs72559715dbSNPEnsembl.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 Publication1
Natural variantiVAR_0085401493R → W in HHF1; altered intracellular trafficking. 3 PublicationsCorresponds to variant rs28936371dbSNPEnsembl.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 rs137852671dbSNPEnsembl.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 rs72559713dbSNPEnsembl.1
Natural variantiVAR_0313881550V → D in HHF1. 1 Publication1
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 rs267606623dbSNPEnsembl.1
Natural variantiVAR_07292972N → S in PNDM; mosaic. 1 PublicationCorresponds to variant rs80356634dbSNPEnsembl.1
Natural variantiVAR_03135486V → A in PNDM. 2 PublicationsCorresponds to variant rs193929360dbSNPEnsembl.1
Natural variantiVAR_07293086V → G in PNDM. 1 PublicationCorresponds to variant rs193929360dbSNPEnsembl.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 rs80356637dbSNPEnsembl.1
Natural variantiVAR_072931132F → V in PNDM. 1 PublicationCorresponds to variant rs80356637dbSNPEnsembl.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 rs80356640dbSNPEnsembl.1
Natural variantiVAR_072935211Q → K in PNDM. 1 PublicationCorresponds to variant rs193929366dbSNPEnsembl.1
Natural variantiVAR_029779213L → R in PNDM. 1 PublicationCorresponds to variant rs80356642dbSNPEnsembl.1
Natural variantiVAR_072936225L → P in PNDM. 1 PublicationCorresponds to variant rs1048095dbSNPEnsembl.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 rs768017509dbSNPEnsembl.1
Natural variantiVAR_072938263Y → D in PNDM; compound heterozygous with K-208. 1 PublicationCorresponds to variant rs778892038dbSNPEnsembl.1
Natural variantiVAR_072939382E → K in PNDM. 1 PublicationCorresponds to variant rs80356651dbSNPEnsembl.1
Natural variantiVAR_0729441184A → E in PNDM; slightly reduced inhibition by ATP. 1 PublicationCorresponds to variant rs137852675dbSNPEnsembl.1
Natural variantiVAR_0729451326E → K in PNDM. 1 PublicationCorresponds to variant rs200563930dbSNPEnsembl.1
Natural variantiVAR_0313801400G → R in HHF1 and PNDM; compound heterozygous with L-45 in PNDM. 2 PublicationsCorresponds to variant rs137852676dbSNPEnsembl.1
Natural variantiVAR_0297871424I → V in PNDM; overactive channel. 1 PublicationCorresponds to variant rs80356653dbSNPEnsembl.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 rs137852674dbSNPEnsembl.1
Natural variantiVAR_0297821023H → Y in TNDM2; overactive channel. 1 Publication1
Natural variantiVAR_0297831182R → Q in TNDM2. 1 PublicationCorresponds to variant rs193922400dbSNPEnsembl.1
Natural variantiVAR_0297851379R → C in TNDM2. 1 PublicationCorresponds to variant rs137852673dbSNPEnsembl.1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi6833.
MalaCardsiABCC8.
MIMi240800. phenotype.
256450. phenotype.
602485. phenotype.
606176. phenotype.
610374. phenotype.
OpenTargetsiENSG00000006071.
Orphaneti276575. 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.
PharmGKBiPA24395.

Chemistry databases

ChEMBLiCHEMBL2071.
DrugBankiDB00171. Adenosine triphosphate.
DB00672. Chlorpropamide.
DB01120. Gliclazide.
DB00222. Glimepiride.
DB01067. Glipizide.
DB01251. Gliquidone.
DB01016. Glyburide.
DB01382. Glycodiazine.
DB01252. Mitiglinide.
DB00731. Nateglinide.
DB00912. Repaglinide.
DB01124. Tolbutamide.
GuidetoPHARMACOLOGYi2594.

Polymorphism and mutation databases

BioMutaiABCC8.
DMDMi311033501.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000934001 – 1581ATP-binding cassette sub-family C member 8Add BLAST1581

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi10N-linked (GlcNAc...)By similarity1
Glycosylationi1049N-linked (GlcNAc...)By similarity1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ09428.
PaxDbiQ09428.
PeptideAtlasiQ09428.
PRIDEiQ09428.

PTM databases

iPTMnetiQ09428.
PhosphoSitePlusiQ09428.

Expressioni

Gene expression databases

BgeeiENSG00000006071.
CleanExiHS_ABCC8.
ExpressionAtlasiQ09428. baseline and differential.
GenevisibleiQ09428. HS.

Organism-specific databases

HPAiCAB011451.
HPA042318.

Interactioni

Subunit structurei

Interacts with KCNJ11.

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi112700. 2 interactors.
DIPiDIP-58642N.
STRINGi9606.ENSP00000374467.

Chemistry databases

BindingDBiQ09428.

Structurei

3D structure databases

ProteinModelPortaliQ09428.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Sequence similaritiesi

Contains 2 ABC transmembrane type-1 domains.PROSITE-ProRule annotation
Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0054. Eukaryota.
COG1132. LUCA.
GeneTreeiENSGT00860000133722.
HOVERGENiHBG101342.
InParanoidiQ09428.
KOiK05032.
OMAiQGQASKY.
OrthoDBiEOG091G00IN.
PhylomeDBiQ09428.
TreeFamiTF105201.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR000844. ABCC8.
IPR027417. P-loop_NTPase.
IPR000388. Sulphorea_rcpt.
[Graphical view]
PANTHERiPTHR24223:SF187. PTHR24223:SF187. 4 hits.
PfamiPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
PRINTSiPR01093. SULFNYLUR1.
PR01092. SULFNYLUREAR.
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
PROSITEiPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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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.
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Length:50
Mass (Da):5,468
Checksum:i01266271000A63FC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 Publication1
Natural variantiVAR_03135021V → D in HHF1. 1 PublicationCorresponds to variant rs200670692dbSNPEnsembl.1
Natural variantiVAR_03135127F → S in HHF1. 2 Publications1
Natural variantiVAR_07292845P → L in PNDM; compound heterozygous with R-1400. 1 PublicationCorresponds to variant rs267606623dbSNPEnsembl.1
Natural variantiVAR_03135270G → E in HHF1; altered intracellular trafficking. 1 Publication1
Natural variantiVAR_07292972N → S in PNDM; mosaic. 1 PublicationCorresponds to variant rs80356634dbSNPEnsembl.1
Natural variantiVAR_00863974R → Q in HHF1. 1 PublicationCorresponds to variant rs72559734dbSNPEnsembl.1
Natural variantiVAR_03135374R → W in HHF1. 3 PublicationsCorresponds to variant rs201682634dbSNPEnsembl.1
Natural variantiVAR_03135486V → A in PNDM. 2 PublicationsCorresponds to variant rs193929360dbSNPEnsembl.1
Natural variantiVAR_07293086V → G in PNDM. 1 PublicationCorresponds to variant rs193929360dbSNPEnsembl.1
Natural variantiVAR_029777104L → V.Corresponds to variant rs10400391dbSNPEnsembl.1
Natural variantiVAR_031355111G → R in HHF1; altered intracellular trafficking. 2 PublicationsCorresponds to variant rs761749884dbSNPEnsembl.1
Natural variantiVAR_031356116A → P in HHF1. Corresponds to variant rs72559731dbSNPEnsembl.1
Natural variantiVAR_008640125H → Q in HHF1; mild. 2 PublicationsCorresponds to variant rs60637558dbSNPEnsembl.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 rs80356637dbSNPEnsembl.1
Natural variantiVAR_072931132F → V in PNDM. 1 PublicationCorresponds to variant rs80356637dbSNPEnsembl.1
Natural variantiVAR_008641187V → D in HHF1; severe; high prevalence in Finland; loss of channel activity. 2 PublicationsCorresponds to variant rs137852672dbSNPEnsembl.1
Natural variantiVAR_008642188N → S in HHF1; severe. 4 Publications1
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 rs80356640dbSNPEnsembl.1
Natural variantiVAR_072935211Q → K in PNDM. 1 PublicationCorresponds to variant rs193929366dbSNPEnsembl.1
Natural variantiVAR_029779213L → R in PNDM. 1 PublicationCorresponds to variant rs80356642dbSNPEnsembl.1
Natural variantiVAR_072936225L → P in PNDM. 1 PublicationCorresponds to variant rs1048095dbSNPEnsembl.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 rs768017509dbSNPEnsembl.1
Natural variantiVAR_031357233M → R in HHF1. 1 Publication1
Natural variantiVAR_072938263Y → D in PNDM; compound heterozygous with K-208. 1 PublicationCorresponds to variant rs778892038dbSNPEnsembl.1
Natural variantiVAR_008643275R → Q.1 PublicationCorresponds to variant rs185040406dbSNPEnsembl.1
Natural variantiVAR_031358310D → N in HHF1. 1 PublicationCorresponds to variant rs769569410dbSNPEnsembl.1
Natural variantiVAR_072939382E → K in PNDM. 1 PublicationCorresponds to variant rs80356651dbSNPEnsembl.1
Natural variantiVAR_008644406N → D in HHF1. 1 PublicationCorresponds to variant rs72559728dbSNPEnsembl.1
Natural variantiVAR_031359418C → R in HHF1. Corresponds to variant rs67254669dbSNPEnsembl.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 rs372307320dbSNPEnsembl.1
Natural variantiVAR_031362503L → P in HHF1. 1 Publication1
Natural variantiVAR_031363508L → P in HHF1. Corresponds to variant rs72559727dbSNPEnsembl.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 → M.1 PublicationCorresponds to variant rs4148619dbSNPEnsembl.1
Natural variantiVAR_029781582L → V in TNDM2. 1 PublicationCorresponds to variant rs137852674dbSNPEnsembl.1
Natural variantiVAR_008646591F → L in HHF1. 2 PublicationsCorresponds to variant rs72559726dbSNPEnsembl.1
Natural variantiVAR_031365620R → C in HHF1. Corresponds to variant rs58241708dbSNPEnsembl.1
Natural variantiVAR_015006673D → N.1 PublicationCorresponds to variant rs777986828dbSNPEnsembl.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 rs72559723dbSNPEnsembl.1
Natural variantiVAR_031367719K → T in HHF1. 1 Publication1
Natural variantiVAR_008647810D → N.1 PublicationCorresponds to variant rs767572066dbSNPEnsembl.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 → C.1 PublicationCorresponds to variant rs140068774dbSNPEnsembl.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 rs761862121dbSNPEnsembl.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 rs72559721dbSNPEnsembl.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 rs201351976dbSNPEnsembl.1
Natural variantiVAR_0313721147L → R in HHF1. 1 Publication1
Natural variantiVAR_0297831182R → Q in TNDM2. 1 PublicationCorresponds to variant rs193922400dbSNPEnsembl.1
Natural variantiVAR_0729441184A → E in PNDM; slightly reduced inhibition by ATP. 1 PublicationCorresponds to variant rs137852675dbSNPEnsembl.1
Natural variantiVAR_0086501214R → Q in HHF1; severe. 3 PublicationsCorresponds to variant rs367850779dbSNPEnsembl.1
Natural variantiVAR_0313731214R → W in HHF1. 2 PublicationsCorresponds to variant rs139964066dbSNPEnsembl.1
Natural variantiVAR_0313741295N → K in HHF1. 1 Publication1
Natural variantiVAR_0729451326E → K in PNDM. 1 PublicationCorresponds to variant rs200563930dbSNPEnsembl.1
Natural variantiVAR_0313751336K → N in HHF1. 1 PublicationCorresponds to variant rs67767715dbSNPEnsembl.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 rs28936370dbSNPEnsembl.1
Natural variantiVAR_0085371352R → P in HHF1. 2 PublicationsCorresponds to variant rs28936370dbSNPEnsembl.1
Natural variantiVAR_0086511360V → G.1 Publication1
Natural variantiVAR_0150071360V → M in HHF1. 1
Natural variantiVAR_0086521369A → S.12 PublicationsCorresponds to variant rs757110dbSNPEnsembl.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 Publication1
Natural variantiVAR_0297851379R → C in TNDM2. 1 PublicationCorresponds to variant rs137852673dbSNPEnsembl.1
Natural variantiVAR_0086541381G → S in HHF1. 2 PublicationsCorresponds to variant rs773448052dbSNPEnsembl.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 rs72559718dbSNPEnsembl.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 rs769279368dbSNPEnsembl.1
Natural variantiVAR_0313801400G → R in HHF1 and PNDM; compound heterozygous with L-45 in PNDM. 2 Publications