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Q09428

- ABCC8_HUMAN

UniProt

Q09428 - ABCC8_HUMAN

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Protein

ATP-binding cassette sub-family C member 8

Gene

ABCC8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi713 – 7208ATP 1PROSITE-ProRule annotation
Nucleotide bindingi1378 – 13858ATP 2PROSITE-ProRule annotation

GO - Molecular functioni

  1. ATPase activity, coupled to transmembrane movement of substances Source: InterPro
  2. ATP binding Source: ProtInc
  3. ion channel binding Source: BHF-UCL
  4. potassium ion transmembrane transporter activity Source: ProtInc
  5. sulfonylurea receptor activity Source: ProtInc

GO - Biological processi

  1. carbohydrate metabolic process Source: ProtInc
  2. energy reserve metabolic process Source: Reactome
  3. potassium ion transmembrane transport Source: GOC
  4. potassium ion transport Source: ProtInc
  5. regulation of insulin secretion Source: Reactome
  6. signal transduction Source: GOC
  7. small molecule metabolic process Source: Reactome
  8. synaptic transmission Source: Reactome
  9. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_15480. ABC-family proteins mediated transport.
REACT_18325. Regulation of insulin secretion.
REACT_75775. ATP sensitive Potassium channels.
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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:59. ABCC8.

Subcellular locationi

GO - Cellular componenti

  1. plasma membrane Source: Reactome
  2. voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1352 – 13521R → H in LIH; partially impairs ATP-dependent potassium channel function. 1 Publication
VAR_029784
Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.13 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71G → R in HHF1. 1 Publication
VAR_031349
Natural varianti21 – 211V → D in HHF1. 1 Publication
VAR_031350
Natural varianti27 – 271F → S in HHF1. 2 Publications
VAR_031351
Natural varianti70 – 701G → E in HHF1; altered intracellular trafficking. 1 Publication
VAR_031352
Natural varianti74 – 741R → Q in HHF1. 1 Publication
VAR_008639
Natural varianti74 – 741R → W in HHF1. 3 Publications
Corresponds to variant rs201682634 [ dbSNP | Ensembl ].
VAR_031353
Natural varianti111 – 1111G → R in HHF1; altered intracellular trafficking. 2 Publications
VAR_031355
Natural varianti116 – 1161A → P in HHF1.
VAR_031356
Natural varianti125 – 1251H → Q in HHF1; mild. 1 Publication
Corresponds to variant rs60637558 [ dbSNP | Ensembl ].
VAR_008640
Natural varianti187 – 1871V → D in HHF1; severe; high prevalence in Finland; loss of channel activity. 2 Publications
VAR_008641
Natural varianti188 – 1881N → S in HHF1; severe. 3 Publications
VAR_008642
Natural varianti233 – 2331M → R in HHF1. 1 Publication
VAR_031357
Natural varianti310 – 3101D → N in HHF1. 1 Publication
VAR_031358
Natural varianti406 – 4061N → D in HHF1. 1 Publication
VAR_008644
Natural varianti418 – 4181C → R in HHF1.
Corresponds to variant rs67254669 [ dbSNP | Ensembl ].
VAR_031359
Natural varianti495 – 4951R → Q in HHF1. 1 Publication
VAR_031360
Natural varianti501 – 5011E → K in HHF1. 2 Publications
VAR_031361
Natural varianti503 – 5031L → P in HHF1. 1 Publication
VAR_031362
Natural varianti508 – 5081L → P in HHF1.
VAR_031363
Natural varianti551 – 5511P → R in HHF1. 1 Publication
VAR_031364
Natural varianti591 – 5911F → L in HHF1. 1 Publication
VAR_008646
Natural varianti620 – 6201R → C in HHF1.
Corresponds to variant rs58241708 [ dbSNP | Ensembl ].
VAR_031365
Natural varianti686 – 6861F → S in HHF1. 2 Publications
VAR_031366
Natural varianti716 – 7161G → V in HHF1. 1 Publication
VAR_000100
Natural varianti719 – 7191K → T in HHF1. 1 Publication
VAR_031367
Natural varianti841 – 8411R → G in HHF1. 1 Publication
VAR_031368
Natural varianti889 – 8891K → T in HHF1.
VAR_031369
Natural varianti956 – 9561S → F in HHF1.
VAR_031370
Natural varianti1130 – 11301T → P in HHF1. 1 Publication
VAR_031371
Natural varianti1138 – 11381T → M in HHF1. 1 Publication
VAR_008649
Natural varianti1147 – 11471L → R in HHF1. 1 Publication
VAR_031372
Natural varianti1214 – 12141R → Q in HHF1; severe. 2 Publications
VAR_008650
Natural varianti1214 – 12141R → W in HHF1. 2 Publications
VAR_031373
Natural varianti1295 – 12951N → K in HHF1. 1 Publication
VAR_031374
Natural varianti1336 – 13361K → N in HHF1. 1 Publication
VAR_031375
Natural varianti1342 – 13421G → E in HHF1; altered intracellular trafficking. 1 Publication
VAR_031376
Natural varianti1349 – 13491L → Q in HHF1. 1 Publication
VAR_031377
Natural varianti1352 – 13521R → P in HHF1. 1 Publication
Corresponds to variant rs28936370 [ dbSNP | Ensembl ].
VAR_008537
Natural varianti1360 – 13601V → M in HHF1.
VAR_015007
Natural varianti1378 – 13781G → R in HHF1. 2 Publications
VAR_008653
Natural varianti1381 – 13811G → S in HHF1. 1 Publication
VAR_008654
Natural varianti1384 – 13841K → Q in HHF1. 1 Publication
VAR_031378
Natural varianti1385 – 13851Missing in HHF1; does not alter surface expression but channels are not functional. 1 Publication
VAR_029786
Natural varianti1386 – 13861S → F in HHF1.
VAR_031379
Natural varianti1387 – 13871Missing in HHF1; severe; high frequency in Ashkenazi Jewish patients; defective trafficking and lack of surface expression. 4 Publications
VAR_008538
Natural varianti1393 – 13931R → H in HHF1; severe; loss of channel activity. 1 Publication
VAR_008655
Natural varianti1400 – 14001G → R in HHF1. 1 Publication
VAR_031380
Natural varianti1418 – 14181R → H in HHF1; altered intracellular trafficking. 1 Publication
VAR_031381
Natural varianti1420 – 14201R → C in HHF1; modest impairment of channel function. 2 Publications
Corresponds to variant rs28938469 [ dbSNP | Ensembl ].
VAR_008539
Natural varianti1436 – 14361R → Q in HHF1; cannot form a functional channel, due to protein instability or defective transport to the membrane.
VAR_015008
Natural varianti1450 – 14501L → P in HHF1. 1 Publication
VAR_031382
Natural varianti1457 – 14571A → T in HHF1. 1 Publication
VAR_031383
Natural varianti1471 – 14711D → H in HHF1. 1 Publication
VAR_031384
Natural varianti1471 – 14711D → N in HHF1. 1 Publication
VAR_031385
Natural varianti1478 – 14781G → R in HHF1; channels insensitive to metabolic inhibition and to activation by ADP.
VAR_008656
Natural varianti1486 – 14861R → K in HHF1. 1 Publication
VAR_031386
Natural varianti1493 – 14931R → Q in HHF1. 1 Publication
VAR_031387
Natural varianti1493 – 14931R → W in HHF1; altered intracellular trafficking. 3 Publications
Corresponds to variant rs28936371 [ dbSNP | Ensembl ].
VAR_008540
Natural varianti1506 – 15061E → K in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP. 1 Publication
VAR_015009
Natural varianti1507 – 15071A → AAS in HHF1.
VAR_008657
Natural varianti1543 – 15431L → P in HHF1; reduced channels surface expression and response to ADP.
VAR_015010
Natural varianti1550 – 15501V → D in HHF1. 1 Publication
VAR_031388
Natural varianti1551 – 15511L → V in HHF1. 1 Publication
VAR_031389
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti86 – 861V → A in PNDM. 1 Publication
VAR_031354
Natural varianti132 – 1321F → L in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current. 1 Publication
VAR_029778
Natural varianti213 – 2131L → R in PNDM. 1 Publication
VAR_029779
Natural varianti1424 – 14241I → V in PNDM; overactive channel. 1 Publication
VAR_029787
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti435 – 4351C → R in TNDM2. 1 Publication
VAR_029780
Natural varianti582 – 5821L → V in TNDM2. 1 Publication
VAR_029781
Natural varianti1023 – 10231H → Y in TNDM2; overactive channel. 1 Publication
VAR_029782
Natural varianti1182 – 11821R → Q in TNDM2. 1 Publication
VAR_029783
Natural varianti1379 – 13791R → C in TNDM2. 1 Publication
VAR_029785

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

MIMi240800. phenotype.
256450. phenotype.
602485. phenotype.
606176. phenotype.
610374. phenotype.
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 syndrome.
99885. Permanent neonatal diabetes mellitus.
99886. Transient neonatal diabetes mellitus.
PharmGKBiPA24395.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15811581ATP-binding cassette sub-family C member 8PRO_0000093400Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi10 – 101N-linked (GlcNAc...)By similarity
Glycosylationi1049 – 10491N-linked (GlcNAc...)By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ09428.
PRIDEiQ09428.

PTM databases

PhosphoSiteiQ09428.

Expressioni

Gene expression databases

BgeeiQ09428.
CleanExiHS_ABCC8.
ExpressionAtlasiQ09428. baseline and differential.
GenevestigatoriQ09428.

Organism-specific databases

HPAiCAB011451.
HPA042318.

Interactioni

Subunit structurei

Interacts with KCNJ11.

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ09428.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3434ExtracellularBy similarityAdd
BLAST
Topological domaini56 – 7520CytoplasmicBy similarityAdd
BLAST
Topological domaini97 – 1015ExtracellularBy similarity
Topological domaini123 – 13412CytoplasmicBy similarityAdd
BLAST
Topological domaini155 – 16713ExtracellularBy similarityAdd
BLAST
Topological domaini195 – 311117CytoplasmicBy similarityAdd
BLAST
Topological domaini332 – 35524ExtracellularBy similarityAdd
BLAST
Topological domaini377 – 43458CytoplasmicBy similarityAdd
BLAST
Topological domaini456 – 4583ExtracellularBy similarity
Topological domaini480 – 54162CytoplasmicBy similarityAdd
BLAST
Topological domaini563 – 58422ExtracellularBy similarityAdd
BLAST
Topological domaini606 – 1004399CytoplasmicBy similarityAdd
BLAST
Topological domaini1026 – 107247ExtracellularBy similarityAdd
BLAST
Topological domaini1094 – 113744CytoplasmicBy similarityAdd
BLAST
Topological domaini1159 – 11591ExtracellularBy similarity
Topological domaini1181 – 125171CytoplasmicBy similarityAdd
BLAST
Topological domaini1273 – 12764ExtracellularBy similarity
Topological domaini1298 – 1581284CytoplasmicBy similarityAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei35 – 5521Helical; Name=1PROSITE-ProRule annotationAdd
BLAST
Transmembranei76 – 9621Helical; Name=2PROSITE-ProRule annotationAdd
BLAST
Transmembranei102 – 12221Helical; Name=3PROSITE-ProRule annotationAdd
BLAST
Transmembranei135 – 15420Helical; Name=4PROSITE-ProRule annotationAdd
BLAST
Transmembranei168 – 19427Helical; Name=5PROSITE-ProRule annotationAdd
BLAST
Transmembranei312 – 33120Helical; Name=6PROSITE-ProRule annotationAdd
BLAST
Transmembranei356 – 37621Helical; Name=7PROSITE-ProRule annotationAdd
BLAST
Transmembranei435 – 45521Helical; Name=8PROSITE-ProRule annotationAdd
BLAST
Transmembranei459 – 47921Helical; Name=9PROSITE-ProRule annotationAdd
BLAST
Transmembranei542 – 56221Helical; Name=10PROSITE-ProRule annotationAdd
BLAST
Transmembranei585 – 60521Helical; Name=11PROSITE-ProRule annotationAdd
BLAST
Transmembranei1005 – 102521Helical; Name=12PROSITE-ProRule annotationAdd
BLAST
Transmembranei1073 – 109321Helical; Name=13PROSITE-ProRule annotationAdd
BLAST
Transmembranei1138 – 115821Helical; Name=14PROSITE-ProRule annotationAdd
BLAST
Transmembranei1160 – 118021Helical; Name=15PROSITE-ProRule annotationAdd
BLAST
Transmembranei1252 – 127221Helical; Name=16PROSITE-ProRule annotationAdd
BLAST
Transmembranei1277 – 129721Helical; Name=17PROSITE-ProRule annotationAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini299 – 602304ABC transmembrane type-1 1PROSITE-ProRule annotationAdd
BLAST
Domaini679 – 929251ABC transporter 1PROSITE-ProRule annotationAdd
BLAST
Domaini1012 – 1306295ABC transmembrane type-1 2PROSITE-ProRule annotationAdd
BLAST
Domaini1344 – 1578235ABC transporter 2PROSITE-ProRule annotationAdd
BLAST

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

eggNOGiCOG1132.
GeneTreeiENSGT00760000119056.
HOVERGENiHBG101342.
InParanoidiQ09428.
KOiK05032.
OMAiRKDSVFA.
OrthoDBiEOG7MWGW0.
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.
IPR001140. ABC_transptr_TM_dom.
IPR027417. P-loop_NTPase.
IPR000388. Sulphorea_rcpt.
IPR000844. Surea_rcpt-1.
[Graphical view]
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. Align

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti30 – 301A → V in AAB02278. 1 PublicationCurated
Sequence conflicti30 – 301A → V in AAB02417. 1 PublicationCurated
Sequence conflicti30 – 301A → V in AAB02418. 1 PublicationCurated
Sequence conflicti157 – 1571F → L in AAB36699. 1 PublicationCurated
Sequence conflicti157 – 1571F → L in AAB36700. 1 PublicationCurated
Sequence conflicti163 – 1631G → A in AAB02278. 1 PublicationCurated
Sequence conflicti163 – 1631G → A in AAB02417. 1 PublicationCurated
Sequence conflicti163 – 1631G → A in AAB02418. 1 PublicationCurated
Sequence conflicti167 – 1671L → V in AAB02278. 1 PublicationCurated
Sequence conflicti167 – 1671L → V in AAB02417. 1 PublicationCurated
Sequence conflicti167 – 1671L → V in AAB02418. 1 PublicationCurated
Sequence conflicti225 – 2251L → P in AAB36699. 1 PublicationCurated
Sequence conflicti225 – 2251L → P in AAB36700. 1 PublicationCurated
Sequence conflicti256 – 2561A → V in AAB36699. 1 PublicationCurated
Sequence conflicti256 – 2561A → V in AAB36700. 1 PublicationCurated
Sequence conflicti487 – 4871S → T in AAB02278. 1 PublicationCurated
Sequence conflicti487 – 4871S → T in AAB02417. 1 PublicationCurated
Sequence conflicti487 – 4871S → T in AAB02418. 1 PublicationCurated
Sequence conflicti1069 – 10702VL → AV in AAB02278. 1 PublicationCurated
Sequence conflicti1069 – 10702VL → AV in AAB02417. 1 PublicationCurated
Sequence conflicti1069 – 10702VL → AV in AAB02418. 1 PublicationCurated
Sequence conflicti1172 – 11721I → V in AAB36699. 1 PublicationCurated
Sequence conflicti1172 – 11721I → V in AAB36700. 1 PublicationCurated
Sequence conflicti1410 – 14101A → R in AAB36699. 1 PublicationCurated
Sequence conflicti1410 – 14101A → R in AAB36700. 1 PublicationCurated
Sequence conflicti1418 – 14181R → P in AAB36699. 1 PublicationCurated
Sequence conflicti1418 – 14181R → P in AAB36700. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71G → R in HHF1. 1 Publication
VAR_031349
Natural varianti21 – 211V → D in HHF1. 1 Publication
VAR_031350
Natural varianti27 – 271F → S in HHF1. 2 Publications
VAR_031351
Natural varianti70 – 701G → E in HHF1; altered intracellular trafficking. 1 Publication
VAR_031352
Natural varianti74 – 741R → Q in HHF1. 1 Publication
VAR_008639
Natural varianti74 – 741R → W in HHF1. 3 Publications
Corresponds to variant rs201682634 [ dbSNP | Ensembl ].
VAR_031353
Natural varianti86 – 861V → A in PNDM. 1 Publication
VAR_031354
Natural varianti104 – 1041L → V.
Corresponds to variant rs10400391 [ dbSNP | Ensembl ].
VAR_029777
Natural varianti111 – 1111G → R in HHF1; altered intracellular trafficking. 2 Publications
VAR_031355
Natural varianti116 – 1161A → P in HHF1.
VAR_031356
Natural varianti125 – 1251H → Q in HHF1; mild. 1 Publication
Corresponds to variant rs60637558 [ dbSNP | Ensembl ].
VAR_008640
Natural varianti132 – 1321F → L in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current. 1 Publication
VAR_029778
Natural varianti187 – 1871V → D in HHF1; severe; high prevalence in Finland; loss of channel activity. 2 Publications
VAR_008641
Natural varianti188 – 1881N → S in HHF1; severe. 3 Publications
VAR_008642
Natural varianti213 – 2131L → R in PNDM. 1 Publication
VAR_029779
Natural varianti233 – 2331M → R in HHF1. 1 Publication
VAR_031357
Natural varianti275 – 2751R → Q.1 Publication
VAR_008643
Natural varianti310 – 3101D → N in HHF1. 1 Publication
VAR_031358
Natural varianti406 – 4061N → D in HHF1. 1 Publication
VAR_008644
Natural varianti418 – 4181C → R in HHF1.
Corresponds to variant rs67254669 [ dbSNP | Ensembl ].
VAR_031359
Natural varianti435 – 4351C → R in TNDM2. 1 Publication
VAR_029780
Natural varianti495 – 4951R → Q in HHF1. 1 Publication
VAR_031360
Natural varianti501 – 5011E → K in HHF1. 2 Publications
VAR_031361
Natural varianti503 – 5031L → P in HHF1. 1 Publication
VAR_031362
Natural varianti508 – 5081L → P in HHF1.
VAR_031363
Natural varianti551 – 5511P → R in HHF1. 1 Publication
VAR_031364
Natural varianti560 – 5601V → M.1 Publication
Corresponds to variant rs4148619 [ dbSNP | Ensembl ].
VAR_008645
Natural varianti582 – 5821L → V in TNDM2. 1 Publication
VAR_029781
Natural varianti591 – 5911F → L in HHF1. 1 Publication
VAR_008646
Natural varianti620 – 6201R → C in HHF1.
Corresponds to variant rs58241708 [ dbSNP | Ensembl ].
VAR_031365
Natural varianti673 – 6731D → N.1 Publication
VAR_015006
Natural varianti686 – 6861F → S in HHF1. 2 Publications
VAR_031366
Natural varianti716 – 7161G → V in HHF1. 1 Publication
VAR_000100
Natural varianti719 – 7191K → T in HHF1. 1 Publication
VAR_031367
Natural varianti810 – 8101D → N.1 Publication
VAR_008647
Natural varianti834 – 8341R → C.1 Publication
VAR_008648
Natural varianti841 – 8411R → G in HHF1. 1 Publication
VAR_031368
Natural varianti889 – 8891K → T in HHF1.
VAR_031369
Natural varianti956 – 9561S → F in HHF1.
VAR_031370
Natural varianti1023 – 10231H → Y in TNDM2; overactive channel. 1 Publication
VAR_029782
Natural varianti1130 – 11301T → P in HHF1. 1 Publication
VAR_031371
Natural varianti1138 – 11381T → M in HHF1. 1 Publication
VAR_008649
Natural varianti1147 – 11471L → R in HHF1. 1 Publication
VAR_031372
Natural varianti1182 – 11821R → Q in TNDM2. 1 Publication
VAR_029783
Natural varianti1214 – 12141R → Q in HHF1; severe. 2 Publications
VAR_008650
Natural varianti1214 – 12141R → W in HHF1. 2 Publications
VAR_031373
Natural varianti1295 – 12951N → K in HHF1. 1 Publication
VAR_031374
Natural varianti1336 – 13361K → N in HHF1. 1 Publication
VAR_031375
Natural varianti1342 – 13421G → E in HHF1; altered intracellular trafficking. 1 Publication
VAR_031376
Natural varianti1349 – 13491L → Q in HHF1. 1 Publication
VAR_031377
Natural varianti1352 – 13521R → H in LIH; partially impairs ATP-dependent potassium channel function. 1 Publication
VAR_029784
Natural varianti1352 – 13521R → P in HHF1. 1 Publication
Corresponds to variant rs28936370 [ dbSNP | Ensembl ].
VAR_008537
Natural varianti1360 – 13601V → G.1 Publication
VAR_008651
Natural varianti1360 – 13601V → M in HHF1.
VAR_015007
Natural varianti1369 – 13691A → S.12 Publications
Corresponds to variant rs757110 [ dbSNP | Ensembl ].
VAR_008652
Natural varianti1378 – 13781G → R in HHF1. 2 Publications
VAR_008653
Natural varianti1379 – 13791R → C in TNDM2. 1 Publication
VAR_029785
Natural varianti1381 – 13811G → S in HHF1. 1 Publication
VAR_008654
Natural varianti1384 – 13841K → Q in HHF1. 1 Publication
VAR_031378
Natural varianti1385 – 13851Missing in HHF1; does not alter surface expression but channels are not functional. 1 Publication
VAR_029786
Natural varianti1386 – 13861S → F in HHF1.
VAR_031379
Natural varianti1387 – 13871Missing in HHF1; severe; high frequency in Ashkenazi Jewish patients; defective trafficking and lack of surface expression. 4 Publications
VAR_008538
Natural varianti1393 – 13931R → H in HHF1; severe; loss of channel activity. 1 Publication
VAR_008655
Natural varianti1400 – 14001G → R in HHF1. 1 Publication
VAR_031380
Natural varianti1418 – 14181R → H in HHF1; altered intracellular trafficking. 1 Publication
VAR_031381
Natural varianti1420 – 14201R → C in HHF1; modest impairment of channel function. 2 Publications
Corresponds to variant rs28938469 [ dbSNP | Ensembl ].
VAR_008539
Natural varianti1424 – 14241I → V in PNDM; overactive channel. 1 Publication
VAR_029787
Natural varianti1436 – 14361R → Q in HHF1; cannot form a functional channel, due to protein instability or defective transport to the membrane.
VAR_015008
Natural varianti1450 – 14501L → P in HHF1. 1 Publication
VAR_031382
Natural varianti1457 – 14571A → T in HHF1. 1 Publication
VAR_031383
Natural varianti1471 – 14711D → H in HHF1. 1 Publication
VAR_031384
Natural varianti1471 – 14711D → N in HHF1. 1 Publication
VAR_031385
Natural varianti1478 – 14781G → R in HHF1; channels insensitive to metabolic inhibition and to activation by ADP.
VAR_008656
Natural varianti1486 – 14861R → K in HHF1. 1 Publication
VAR_031386
Natural varianti1493 – 14931R → Q in HHF1. 1 Publication
VAR_031387
Natural varianti1493 – 14931R → W in HHF1; altered intracellular trafficking. 3 Publications
Corresponds to variant rs28936371 [ dbSNP | Ensembl ].
VAR_008540
Natural varianti1506 – 15061E → K in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP. 1 Publication
VAR_015009
Natural varianti1507 – 15071A → AAS in HHF1.
VAR_008657
Natural varianti1543 – 15431L → P in HHF1; reduced channels surface expression and response to ADP.
VAR_015010
Natural varianti1550 – 15501V → D in HHF1. 1 Publication
VAR_031388
Natural varianti1551 – 15511L → V in HHF1. 1 Publication
VAR_031389
Natural varianti1572 – 15721V → I.3 Publications
Corresponds to variant rs8192690 [ dbSNP | Ensembl ].
VAR_008658

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei51 – 15811531Missing in isoform 3. 1 PublicationVSP_044090Add
BLAST
Alternative sequencei740 – 7401S → SS in isoform 2. CuratedVSP_000055

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
HM635782 mRNA. Translation: ADM67556.1.
L78207 mRNA. Translation: AAB02278.1.
L78243
, L78208, L78209, L78210, L78211, L78212, L78255, L78213, L78214, L78215, L78216, L78217, L78218, L78219, L78220, L78221, L78222, L78223, L78225, L78254, L78226, L78227, L78228, L78229, L78230, L78231, L78232, L78233, L78234, L78235, L78236, L78237, L78238, L78239, L78240, L78241, L78242 Genomic DNA. Translation: AAB02417.1.
L78243
, L78208, L78209, L78210, L78211, L78212, L78255, L78213, L78214, L78215, L78216, L78217, L78218, L78219, L78220, L78221, L78222, L78224, L78225, L78254, L78226, L78227, L78228, L78229, L78230, L78231, L78232, L78233, L78234, L78235, L78236, L78237, L78238, L78239, L78240, L78241, L78242 Genomic DNA. Translation: AAB02418.1.
U63421 mRNA. Translation: AAB36699.1.
U63455
, U63422, U63423, U63424, U63425, U63426, U63427, U63428, U63429, U63430, U63431, U63432, U63433, U63434, U63435, U63436, U63437, U63438, U63439, U63441, U63442, U63443, U63444, U63445, U63446, U63447, U63448, U63449, U63450, U63451, U63452, U63453, U63454 Genomic DNA. Translation: AAB36700.1.
AF087138 mRNA. Translation: AAC36724.1.
AC124798 Genomic DNA. No translation available.
L40625 mRNA. Translation: AAA99227.1.
CCDSiCCDS31437.1. [Q09428-1]
CCDS73264.1. [Q09428-2]
RefSeqiNP_000343.2. NM_000352.4. [Q09428-1]
NP_001274103.1. NM_001287174.1. [Q09428-2]
UniGeneiHs.54470.

Genome annotation databases

EnsembliENST00000302539; ENSP00000303960; ENSG00000006071. [Q09428-2]
ENST00000389817; ENSP00000374467; ENSG00000006071. [Q09428-1]
ENST00000612903; ENSP00000483031; ENSG00000006071. [Q09428-3]
GeneIDi6833.
KEGGihsa:6833.
UCSCiuc001mnc.3. human. [Q09428-1]

Polymorphism databases

DMDMi311033501.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
HM635782 mRNA. Translation: ADM67556.1 .
L78207 mRNA. Translation: AAB02278.1 .
L78243
, L78208 , L78209 , L78210 , L78211 , L78212 , L78255 , L78213 , L78214 , L78215 , L78216 , L78217 , L78218 , L78219 , L78220 , L78221 , L78222 , L78223 , L78225 , L78254 , L78226 , L78227 , L78228 , L78229 , L78230 , L78231 , L78232 , L78233 , L78234 , L78235 , L78236 , L78237 , L78238 , L78239 , L78240 , L78241 , L78242 Genomic DNA. Translation: AAB02417.1 .
L78243
, L78208 , L78209 , L78210 , L78211 , L78212 , L78255 , L78213 , L78214 , L78215 , L78216 , L78217 , L78218 , L78219 , L78220 , L78221 , L78222 , L78224 , L78225 , L78254 , L78226 , L78227 , L78228 , L78229 , L78230 , L78231 , L78232 , L78233 , L78234 , L78235 , L78236 , L78237 , L78238 , L78239 , L78240 , L78241 , L78242 Genomic DNA. Translation: AAB02418.1 .
U63421 mRNA. Translation: AAB36699.1 .
U63455
, U63422 , U63423 , U63424 , U63425 , U63426 , U63427 , U63428 , U63429 , U63430 , U63431 , U63432 , U63433 , U63434 , U63435 , U63436 , U63437 , U63438 , U63439 , U63441 , U63442 , U63443 , U63444 , U63445 , U63446 , U63447 , U63448 , U63449 , U63450 , U63451 , U63452 , U63453 , U63454 Genomic DNA. Translation: AAB36700.1 .
AF087138 mRNA. Translation: AAC36724.1 .
AC124798 Genomic DNA. No translation available.
L40625 mRNA. Translation: AAA99227.1 .
CCDSi CCDS31437.1. [Q09428-1 ]
CCDS73264.1. [Q09428-2 ]
RefSeqi NP_000343.2. NM_000352.4. [Q09428-1 ]
NP_001274103.1. NM_001287174.1. [Q09428-2 ]
UniGenei Hs.54470.

3D structure databases

ProteinModelPortali Q09428.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112700. 2 interactions.
DIPi DIP-58642N.
STRINGi 9606.ENSP00000374467.

Chemistry

BindingDBi Q09428.
ChEMBLi CHEMBL2095152.
DrugBanki DB00171. Adenosine triphosphate.
DB00672. Chlorpropamide.
DB01120. Gliclazide.
DB00222. Glimepiride.
DB01067. Glipizide.
DB01251. Gliquidone.
DB01016. Glyburide.
DB01382. Glycodiazine.
DB01252. Mitiglinide.
DB00731. Nateglinide.
DB00912. Repaglinide.
DB01124. Tolbutamide.
GuidetoPHARMACOLOGYi 2594.

Protein family/group databases

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

PTM databases

PhosphoSitei Q09428.

Polymorphism databases

DMDMi 311033501.

Proteomic databases

PaxDbi Q09428.
PRIDEi Q09428.

Protocols and materials databases

DNASUi 6833.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000302539 ; ENSP00000303960 ; ENSG00000006071 . [Q09428-2 ]
ENST00000389817 ; ENSP00000374467 ; ENSG00000006071 . [Q09428-1 ]
ENST00000612903 ; ENSP00000483031 ; ENSG00000006071 . [Q09428-3 ]
GeneIDi 6833.
KEGGi hsa:6833.
UCSCi uc001mnc.3. human. [Q09428-1 ]

Organism-specific databases

CTDi 6833.
GeneCardsi GC11M017414.
GeneReviewsi ABCC8.
H-InvDB HIX0035864.
HGNCi HGNC:59. ABCC8.
HPAi CAB011451.
HPA042318.
MIMi 240800. phenotype.
256450. phenotype.
600509. gene.
602485. phenotype.
606176. phenotype.
610374. phenotype.
neXtProti NX_Q09428.
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 syndrome.
99885. Permanent neonatal diabetes mellitus.
99886. Transient neonatal diabetes mellitus.
PharmGKBi PA24395.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1132.
GeneTreei ENSGT00760000119056.
HOVERGENi HBG101342.
InParanoidi Q09428.
KOi K05032.
OMAi RKDSVFA.
OrthoDBi EOG7MWGW0.
PhylomeDBi Q09428.
TreeFami TF105201.

Enzyme and pathway databases

Reactomei REACT_15480. ABC-family proteins mediated transport.
REACT_18325. Regulation of insulin secretion.
REACT_75775. ATP sensitive Potassium channels.
SignaLinki Q09428.

Miscellaneous databases

GeneWikii ABCC8.
GenomeRNAii 6833.
NextBioi 26675.
PROi Q09428.
SOURCEi Search...

Gene expression databases

Bgeei Q09428.
CleanExi HS_ABCC8.
ExpressionAtlasi Q09428. baseline and differential.
Genevestigatori Q09428.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001140. ABC_transptr_TM_dom.
IPR027417. P-loop_NTPase.
IPR000388. Sulphorea_rcpt.
IPR000844. Surea_rcpt-1.
[Graphical view ]
Pfami PF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view ]
PRINTSi PR01093. SULFNYLUR1.
PR01092. SULFNYLUREAR.
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
PROSITEi PS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "An abundant, truncated human sulfonylurea receptor 1 splice variant has prodiabetic properties and impairs sulfonylurea action."
    Schmid D., Stolzlechner M., Sorgner A., Bentele C., Assinger A., Chiba P., Moeslinger T.
    Cell. Mol. Life Sci. 69:129-148(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    Tissue: Heart.
  2. "Human beta cell sulfonylurea receptor, SUR1, expression."
    Gonzalez G., Aguilar-Bryan L., Bryan J.
    Submitted (JUN-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING, VARIANT SER-1369.
    Tissue: Pancreatic islet.
  3. Thomas P.T., Wohllk N., Huang E., Gagel R.F., Cote G.J.
    Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT SER-1369.
    Tissue: Brain and Foreskin.
  4. Nishimura M., Miki T., Aizawa T., Seino S.
    Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-1369.
    Tissue: Pancreas.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy."
    Thomas P.M., Cote G.J., Wohllk N., Haddad B., Mathew P.M., Rabl W., Aguilar-Bryan L., Gagel R.F., Bryan J.
    Science 268:426-429(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1187-1581, VARIANT SER-1369.
    Tissue: Pancreatic islet.
  7. "Membrane topology of the amino-terminal region of the sulfonylurea receptor."
    Raab-Graham K.F., Cirilo L.J., Boettcher A.A., Radeke C.M., Vandenberg C.A.
    J. Biol. Chem. 274:29122-29129(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: TOPOLOGY.
  8. "Molecular biology of adenosine triphosphate-sensitive potassium channels."
    Aguilar-Bryan L., Bryan J.
    Endocr. Rev. 20:101-135(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  9. "Congenital hyperinsulinism: molecular basis of a heterogeneous disease."
    Meissner T., Beinbrech B., Mayatepek E.
    Hum. Mutat. 13:351-361(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  10. "Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy."
    Thomas P.M., Wohllk N., Huang E., Kuhnle U., Rabl W., Gagel R.F., Cote G.J.
    Am. J. Hum. Genet. 59:510-518(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF1 VAL-716.
  11. "Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians."
    Inoue H., Ferrer J., Welling C.M., Elbein S.C., Hoffman M., Mayorga R., Warren-Perry M., Zhang Y., Millns H., Turner R., Province M., Bryan J., Permutt M.A., Aguilar-Bryan L.
    Diabetes 45:825-831(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-1369.
  12. "Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews."
    Nestorowicz A., Wilson B.A., Schoor K.P., Inoue H., Glaser B., Landau H., Stanley C.A., Thornton P.S., Clement J.P. IV, Bryan J., Aguilar-Bryan L., Permutt M.A.
    Hum. Mol. Genet. 5:1813-1822(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF1 PHE-1387 DEL, VARIANTS GLY-1360; SER-1369 AND ILE-1572.
  13. Cited for: CHARACTERIZATION OF VARIANT HHF1 ARG-1478.
  14. "Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM."
    Ohta Y., Tanizawa Y., Inoue H., Hosaka T., Ueda K., Matsutani A., Repunte V.P., Yamada M., Kurachi Y., Bryan J., Aguilar-Bryan L., Permutt M.A., Oka Y.
    Diabetes 47:476-481(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLN-275; MET-560; ASN-810; CYS-834 AND SER-1369.
  15. "Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene."
    Hansen T., Echwald S.M., Hansen L., Moeller A.M., Almind K., Clausen J.O., Urhammer S.A., Inoue H., Ferrer J., Bryan J., Aguilar-Bryan L., Permutt M.A., Pedersen O.
    Diabetes 47:598-605(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASN-673 AND SER-1369.
  16. "Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy."
    Shyng S.-L., Ferrigni T., Shepard J.B., Nestorowicz A., Glaser B., Permutt M.A., Nichols C.G.
    Diabetes 47:1145-1151(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS HHF1 GLN-125; SER-188; LEU-591; MET-1138; GLN-1214; SER-1381; PHE-1387 DEL AND HIS-1393.
  17. Cited for: VARIANTS HHF1 GLN-74; GLN-125; SER-188; ASP-406; LEU-591; MET-1138; GLN-1214; ARG-1378; SER-1381; PHE-1387 DEL AND HIS-1393.
  18. "Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia."
    Verkarre V., Fournet J.-C., de Lonlay P., Gross-Morand M.-S., Devillers M., Rahier J., Brunelle F., Robert J.-J., Nihoul-Fekete C., Saudubray J.-M., Junien C.
    J. Clin. Invest. 102:1286-1291(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHF1 PRO-1352; CYS-1420 AND TRP-1493.
  19. "A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland."
    Otonkoski T., Aemmaelae C., Huopio H., Cote G.J., Chapman J., Cosgrove K., Ashfield R., Huang E., Komulainen J., Ashcroft F.M., Dunne M.J., Kere J., Thomas P.M.
    Diabetes 48:408-415(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF1 ASP-187.
  20. "Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism."
    Glaser B., Furth J., Stanley C.A., Baker L., Thornton P.S., Landau H., Permutt M.A.
    Hum. Mutat. 14:23-29(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SER-1369 AND ILE-1572.
  21. Cited for: VARIANTS HHF1 GLY-841; CYS-1420 AND TRP-1493.
  22. "Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1."
    Tanizawa Y., Matsuda K., Matsuo M., Ohta Y., Ochi N., Adachi M., Koga M., Mizuno S., Kajita M., Tanaka Y., Tachibana K., Inoue H., Furukawa S., Amachi T., Ueda K., Oka Y.
    Diabetes 49:114-120(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS HHF1 CYS-1420 AND GLN-1436, VARIANT SER-1369.
  23. "Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1."
    Huopio H., Reimann F., Ashfield R., Komulainen J., Lenko H.-L., Rahier J., Vauhkonen I., Kere J., Laakso M., Ashcroft F., Otonkoski T.
    J. Clin. Invest. 106:897-906(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT HHF1 LYS-1506.
  24. "Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy."
    Cartier E.A., Conti L.R., Vandenberg C.A., Shyng S.-L.
    Proc. Natl. Acad. Sci. U.S.A. 98:2882-2887(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT HHF1 PHE-1387 DEL.
  25. "Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels."
    Taschenberger G., Mougey A., Shen S., Lester L.B., LaFranchi S., Shyng S.-L.
    J. Biol. Chem. 277:17139-17146(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT HHF1 PRO-1543.
  26. Cited for: VARIANTS HHF1 ASP-187; THR-1457; LYS-1506; ASP-1550 AND VAL-1551.
  27. "Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor."
    Thornton P.S., MacMullen C., Ganguly A., Ruchelli E., Steinkrauss L., Crane A., Aguilar-Bryan L., Stanley C.A.
    Diabetes 52:2403-2410(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHF1 SER-1385 DEL, CHARACTERIZATION OF VARIANT HHF1 SER-1385 DEL.
  28. "Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor."
    Magge S.N., Shyng S.-L., MacMullen C., Steinkrauss L., Ganguly A., Katz L.E.L., Stanley C.A.
    J. Clin. Endocrinol. Metab. 89:4450-4456(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LIH HIS-1352, CHARACTERIZATION OF VARIANT LIH HIS-1352.
  29. Cited for: VARIANTS HHF1 GLU-70; ARG-111; GLU-1342; HIS-1418 AND TRP-1493, CHARACTERIZATION OF VARIANTS HHF1 GLU-70; ARG-111; GLU-1342; HIS-1418 AND TRP-1493.
  30. "Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy."
    Ohkubo K., Nagashima M., Naito Y., Taguchi T., Suita S., Okamoto N., Fujinaga H., Tsumura K., Kikuchi K., Ono J.
    Clin. Endocrinol. (Oxf.) 62:458-465(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHF1 GLN-1384 AND LYS-1486, VARIANT SER-1369.
  31. "Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes."
    Henwood M.J., Kelly A., MacMullen C., Bhatia P., Ganguly A., Thornton P.S., Stanley C.A.
    J. Clin. Endocrinol. Metab. 90:789-794(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHF1 SER-27; TRP-74; SER-188; GLN-495; LYS-501; SER-686; TRP-1214; GLN-1214; ASN-1336; PHE-1387 DEL; HIS-1471 AND ASN-1471.
  32. "A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes."
    Proks P., Arnold A.L., Bruining J., Girard C., Flanagan S.E., Larkin B., Colclough K., Hattersley A.T., Ashcroft F.M., Ellard S.
    Hum. Mol. Genet. 15:1793-1800(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PNDM LEU-132, CHARACTERIZATION OF VARIANT PNDM LEU-132.
  33. "Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)."
    Fernandez-Marmiesse A., Salas A., Vega A., Fernandez-Lorenzo J.R., Barreiro J., Carracedo A.
    Hum. Mutat. 27:214-214(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHF1 TRP-74; ARG-111; SER-188; ARG-233; ASN-310; ARG-551; THR-719; PRO-1130; ARG-1147; LYS-1295 AND PRO-1450, VARIANTS SER-1369 AND ILE-1572.
  34. "Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism."
    Suchi M., MacMullen C.M., Thornton P.S., Adzick N.S., Ganguly A., Ruchelli E.D., Stanley C.A.
    Mod. Pathol. 19:122-129(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHF1 ARG-7; ASP-21; SER-27; TRP-74; LYS-501; PRO-503; SER-686; TRP-1214; TRP-1214; GLN-1349; ARG-1378; PHE-1387 DEL; ARG-1400 AND GLN-1493.
  35. Cited for: VARIANTS PNDM ARG-213 AND VAL-1424, VARIANTS TNDM2 ARG-435; VAL-582; TYR-1023; GLN-1182 AND CYS-1379, CHARACTERIZATION OF VARIANT PNDM VAL-1424, CHARACTERIZATION OF VARIANT TNDM2 TYR-1023.
  36. "Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers."
    Stanik J., Gasperikova D., Paskova M., Barak L., Javorkova J., Jancova E., Ciljakova M., Hlava P., Michalek J., Flanagan S.E., Pearson E., Hattersley A.T., Ellard S., Klimes I.
    J. Clin. Endocrinol. Metab. 92:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PNDM ALA-86.

Entry informationi

Entry nameiABCC8_HUMAN
AccessioniPrimary (citable) accession number: Q09428
Secondary accession number(s): A6NMX8
, E3UYX6, O75948, Q16583
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 2, 2010
Last modified: October 29, 2014
This is version 156 of the entry and version 6 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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