ABCC8
entrez
6833
canonical
uniprot
Q09428
canonical
ensembl
ENSG00000006071
resolver
ensp
ENSP00000303960
resolver
ensp
ENSP00000374467
resolver
ensp
ENSP00000493749
resolver
ensp
ENSP00000494321
resolver
ensp
ENSP00000494450
resolver
enst
ENST00000642271
resolver
enst
ENST00000643260
resolver
enst
ENST00000644772
resolver
genesymbol
ABCC8
resolver
genesymbol_syn
HRINS
resolver
genesymbol_syn
SUR
resolver
genesymbol_syn
SUR1
resolver
hgnc
HGNC:59
resolver
uniprot
A0A2R8Y4V0
resolver
uniprot
A0A2R8Y5D8
resolver
uniprot
A0A2R8YDG0
resolver
uniprot
A6NMX8
resolver
uniprot
E3UYX6
resolver
uniprot
O75948
resolver
uniprot
Q16583
resolver
uniprot_entry
A0A2R8Y4V0_HUMAN
resolver
uniprot_entry
A0A2R8Y5D8_HUMAN
resolver
uniprot_entry
A0A2R8YDG0_HUMAN
resolver
uniprot_entry
ABCC8_HUMAN
resolver
uniprot_sec
A6NMX8
resolver
uniprot_sec
E3UYX6
resolver
uniprot_sec
O75948
resolver
uniprot_sec
Q16583
resolver
activity_regulation
ACTIVITY REGULATION: KATP channels are regulated by cytoplasmic ATP/ADP ratios; ATP inhibits the channel by closing the pore, while ADP activates the channel (PubMed:29286281, PubMed:34815345). Activated by phosphatidylinositol 4,5-biphosphate (PtdIns(4,5)P2) (PubMed:34815345). {ECO:0000269|PubMed:29286281, ECO:0000269|PubMed:34815345}.
uniprot
proteins
amino_acid_sequence
MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHIHHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTSVVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYGMLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFVNLLSKGTYWWMNAFIKTAHKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLVLSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAVLLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNLVAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATKLSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYTSISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRSTVKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLTGPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTMIVGQVGCGKSSLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSPERETATDLDIRKRGPVAYASQKPWLLNATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISVARALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWIIAMKDGTIQREGTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMSSRDGLLQDEEEEEEEAAESEEDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQLLKHMVLVAIDYWLAKWTDSALTLTPAARNCSLSQECTLDQTVYAMVFTVLCSLGIVLCLVTSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSILNRFSSDCNTIDQHIPSTLECLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPLLSHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVLIAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKTEAESYEGLLAPSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRTGSGKSSFSLAFFRMVDTFEGHIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLDPERKCSDSTLWEALEIAQLKLVVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTSIFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEFDKPEKLLSRKDSVFASFVRADK
uniprot
proteins
disease_involvement
DISEASE: Leucine-induced hypoglycemia (LIH) [MIM:240800]: Rare 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. {ECO:0000269|PubMed:15356046}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450]: A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF1 is the most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF1 inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:10202168, ECO:0000269|PubMed:10204114, ECO:0000269|PubMed:10334322, ECO:0000269|PubMed:10615958, ECO:0000269|PubMed:11018078, ECO:0000269|PubMed:11226335, ECO:0000269|PubMed:11867634, ECO:0000269|PubMed:12364426, ECO:0000269|PubMed:12941782, ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:15579781, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:16357843, ECO:0000269|PubMed:16429405, ECO:0000269|PubMed:24814349, ECO:0000269|PubMed:25720052, ECO:0000269|PubMed:8650576, ECO:0000269|PubMed:8751851, ECO:0000269|PubMed:8923011, ECO:0000269|PubMed:9618169, ECO:0000269|PubMed:9648840, ECO:0000269|PubMed:9769320}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857]: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. {ECO:0000269|PubMed:16613899, ECO:0000269|PubMed:16885549, ECO:0000269|PubMed:17213273, ECO:0000269|PubMed:17668386, ECO:0000269|PubMed:21989597, ECO:0000269|PubMed:34014594}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]: Neonatal 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. {ECO:0000269|PubMed:16885549, ECO:0000269|PubMed:20092027, ECO:0000269|PubMed:21738553}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Maturity-onset diabetes of the young 12 (MODY12) [MIM:621196]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:21989597, ECO:0000269|PubMed:34014594}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulator subunit of pancreatic ATP-sensitive potassium channel (KATP), playing a major role in the regulation of insulin release. In pancreatic cells, it forms KATP channels with KCNJ11; KCNJ11 forms the channel pore while ABCC8 is required for activation and regulation. {ECO:0000269|PubMed:24814349, ECO:0000269|PubMed:25720052, ECO:0000269|PubMed:29286281, ECO:0000269|PubMed:34815345}.
uniprot
proteins
mass_dalton
176992
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCC family
uniprot
proteins
protein_family
Conjugate transporter (TC 3.A.1.208) subfamily
uniprot
proteins
pubmed
10202168
uniprot
proteins
pubmed
10204114
uniprot
proteins
pubmed
10334322
uniprot
proteins
pubmed
10338089
uniprot
proteins
pubmed
10447255
uniprot
proteins
pubmed
10506167
uniprot
proteins
pubmed
10615958
uniprot
proteins
pubmed
11018078
uniprot
proteins
pubmed
11226335
uniprot
proteins
pubmed
11867634
uniprot
proteins
pubmed
12364426
uniprot
proteins
pubmed
12941782
uniprot
proteins
pubmed
15356046
uniprot
proteins
pubmed
15562009
uniprot
proteins
pubmed
15579781
uniprot
proteins
pubmed
15807877
uniprot
proteins
pubmed
16357843
uniprot
proteins
pubmed
16429405
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16613899
uniprot
proteins
pubmed
16885549
uniprot
proteins
pubmed
17213273
uniprot
proteins
pubmed
17668386
uniprot
proteins
pubmed
20092027
uniprot
proteins
pubmed
21671119
uniprot
proteins
pubmed
21738553
uniprot
proteins
pubmed
21989597
uniprot
proteins
pubmed
24814349
uniprot
proteins
pubmed
25720052
uniprot
proteins
pubmed
29286281
uniprot
proteins
pubmed
34014594
uniprot
proteins
pubmed
34815345
uniprot
proteins
pubmed
7716548
uniprot
proteins
pubmed
8635661
uniprot
proteins
pubmed
8650576
uniprot
proteins
pubmed
8751851
uniprot
proteins
pubmed
8923011
uniprot
proteins
pubmed
9519757
uniprot
proteins
pubmed
9568693
uniprot
proteins
pubmed
9618169
uniprot
proteins
pubmed
9648840
uniprot
proteins
pubmed
9769320
uniprot
proteins
sequence_length
1581
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24814349}; Multi-pass membrane protein {ECO:0000269|PubMed:29286281, ECO:0000269|PubMed:34815345}.
uniprot
proteins
transmembrane_region
TRANSMEM 31..47; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 73..89; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 107..123; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 137..153; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 170..186; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 304..319; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 357..372; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 439..454; /note="Helical; Name=8"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 461..473; /note="Helical; Name=9"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 542..557; /note="Helical; Name=10"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 577..592; /note="Helical; Name=11"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 1013..1030; /note="Helical; Name=12"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 1067..1083; /note="Helical; Name=13"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 1143..1160; /note="Helical; Name=14"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 1162..1174; /note="Helical; Name=15"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 1249..1264; /note="Helical; Name=16"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P"; TRANSMEM 1281..1296; /note="Helical; Name=17"; /evidence="ECO:0000269|PubMed:29286281, ECO:0007744|PDB:6C3P
uniprot
proteins