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Q09428 (ABCC8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 150. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family C member 8
Alternative name(s):
Sulfonylurea receptor 1
Gene names
Name:ABCC8
Synonyms:HRINS, SUR, SUR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1581 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with KCNJ11.

Subcellular location

Membrane; Multi-pass membrane protein.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.28

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.12 Ref.13 Ref.16 Ref.17 Ref.18 Ref.19 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.29 Ref.30 Ref.31 Ref.33 Ref.34

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.32 Ref.35 Ref.36

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.35

Sequence similarities

Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. [View classification]

Contains 2 ABC transmembrane type-1 domains.

Contains 2 ABC transporter domains.

Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDiabetes mellitus
Disease mutation
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   Molecular functionReceptor
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcarbohydrate metabolic process

Non-traceable author statement Ref.6. Source: ProtInc

energy reserve metabolic process

Traceable author statement. Source: Reactome

potassium ion transmembrane transport

Traceable author statement PubMed 7502040. Source: GOC

potassium ion transport

Traceable author statement PubMed 7502040. Source: ProtInc

regulation of insulin secretion

Traceable author statement. Source: Reactome

signal transduction

Traceable author statement PubMed 7502040. Source: GOC

small molecule metabolic process

Traceable author statement. Source: Reactome

synaptic transmission

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentplasma membrane

Traceable author statement. Source: Reactome

voltage-gated potassium channel complex

Inferred from direct assay PubMed 20610380. Source: BHF-UCL

   Molecular_functionATP binding

Traceable author statement PubMed 7502040. Source: ProtInc

ATPase activity, coupled to transmembrane movement of substances

Inferred from electronic annotation. Source: InterPro

ion channel binding

Inferred from physical interaction PubMed 20610380. Source: BHF-UCL

potassium ion transmembrane transporter activity

Traceable author statement PubMed 7502040. Source: ProtInc

sulfonylurea receptor activity

Traceable author statement PubMed 7502040. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q09428-1)

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.
Isoform 2 (identifier: Q09428-2)

The sequence of this isoform differs from the canonical sequence as follows:
     740-740: S → SS
Isoform 3 (identifier: Q09428-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15811581ATP-binding cassette sub-family C member 8
PRO_0000093400

Regions

Topological domain1 – 3434Extracellular By similarity
Transmembrane35 – 5521Helical; Name=1; By similarity
Topological domain56 – 7520Cytoplasmic By similarity
Transmembrane76 – 9621Helical; Name=2; By similarity
Topological domain97 – 1015Extracellular By similarity
Transmembrane102 – 12221Helical; Name=3; By similarity
Topological domain123 – 13412Cytoplasmic By similarity
Transmembrane135 – 15420Helical; Name=4; By similarity
Topological domain155 – 16713Extracellular By similarity
Transmembrane168 – 19427Helical; Name=5; By similarity
Topological domain195 – 311117Cytoplasmic By similarity
Transmembrane312 – 33120Helical; Name=6; By similarity
Topological domain332 – 35524Extracellular By similarity
Transmembrane356 – 37621Helical; Name=7; By similarity
Topological domain377 – 43458Cytoplasmic By similarity
Transmembrane435 – 45521Helical; Name=8; By similarity
Topological domain456 – 4583Extracellular By similarity
Transmembrane459 – 47921Helical; Name=9; By similarity
Topological domain480 – 54162Cytoplasmic By similarity
Transmembrane542 – 56221Helical; Name=10; By similarity
Topological domain563 – 58422Extracellular By similarity
Transmembrane585 – 60521Helical; Name=11; By similarity
Topological domain606 – 1004399Cytoplasmic By similarity
Transmembrane1005 – 102521Helical; Name=12; By similarity
Topological domain1026 – 107247Extracellular By similarity
Transmembrane1073 – 109321Helical; Name=13; By similarity
Topological domain1094 – 113744Cytoplasmic By similarity
Transmembrane1138 – 115821Helical; Name=14; By similarity
Topological domain11591Extracellular By similarity
Transmembrane1160 – 118021Helical; Name=15; By similarity
Topological domain1181 – 125171Cytoplasmic By similarity
Transmembrane1252 – 127221Helical; Name=16; By similarity
Topological domain1273 – 12764Extracellular By similarity
Transmembrane1277 – 129721Helical; Name=17; By similarity
Topological domain1298 – 1581284Cytoplasmic By similarity
Domain299 – 602304ABC transmembrane type-1 1
Domain679 – 929251ABC transporter 1
Domain1012 – 1306295ABC transmembrane type-1 2
Domain1344 – 1578235ABC transporter 2
Nucleotide binding713 – 7208ATP 1 Potential
Nucleotide binding1378 – 13858ATP 2 Potential

Amino acid modifications

Glycosylation101N-linked (GlcNAc...) By similarity
Glycosylation10491N-linked (GlcNAc...) By similarity

Natural variations

Alternative sequence51 – 15811531Missing in isoform 3.
VSP_044090
Alternative sequence7401S → SS in isoform 2.
VSP_000055
Natural variant71G → R in HHF1. Ref.34
VAR_031349
Natural variant211V → D in HHF1. Ref.34
VAR_031350
Natural variant271F → S in HHF1. Ref.31 Ref.34
VAR_031351
Natural variant701G → E in HHF1; altered intracellular trafficking. Ref.29
VAR_031352
Natural variant741R → Q in HHF1. Ref.17
VAR_008639
Natural variant741R → W in HHF1. Ref.31 Ref.33 Ref.34
Corresponds to variant rs201682634 [ dbSNP | Ensembl ].
VAR_031353
Natural variant861V → A in PNDM. Ref.36
VAR_031354
Natural variant1041L → V.
Corresponds to variant rs10400391 [ dbSNP | Ensembl ].
VAR_029777
Natural variant1111G → R in HHF1; altered intracellular trafficking. Ref.29 Ref.33
VAR_031355
Natural variant1161A → P in HHF1.
VAR_031356
Natural variant1251H → Q in HHF1; mild. Ref.16 Ref.17
Corresponds to variant rs60637558 [ dbSNP | Ensembl ].
VAR_008640
Natural variant1321F → L in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current. Ref.32
VAR_029778
Natural variant1871V → D in HHF1; severe; high prevalence in Finland; loss of channel activity. Ref.19 Ref.26
VAR_008641
Natural variant1881N → S in HHF1; severe. Ref.16 Ref.17 Ref.31 Ref.33
VAR_008642
Natural variant2131L → R in PNDM. Ref.35
VAR_029779
Natural variant2331M → R in HHF1. Ref.33
VAR_031357
Natural variant2751R → Q. Ref.14
VAR_008643
Natural variant3101D → N in HHF1. Ref.33
VAR_031358
Natural variant4061N → D in HHF1. Ref.17
VAR_008644
Natural variant4181C → R in HHF1.
Corresponds to variant rs67254669 [ dbSNP | Ensembl ].
VAR_031359
Natural variant4351C → R in TNDM2. Ref.35
VAR_029780
Natural variant4951R → Q in HHF1. Ref.31
VAR_031360
Natural variant5011E → K in HHF1. Ref.31 Ref.34
VAR_031361
Natural variant5031L → P in HHF1. Ref.34
VAR_031362
Natural variant5081L → P in HHF1.
VAR_031363
Natural variant5511P → R in HHF1. Ref.33
VAR_031364
Natural variant5601V → M. Ref.14
Corresponds to variant rs4148619 [ dbSNP | Ensembl ].
VAR_008645
Natural variant5821L → V in TNDM2. Ref.35
VAR_029781
Natural variant5911F → L in HHF1. Ref.16 Ref.17
VAR_008646
Natural variant6201R → C in HHF1.
Corresponds to variant rs58241708 [ dbSNP | Ensembl ].
VAR_031365
Natural variant6731D → N. Ref.15
VAR_015006
Natural variant6861F → S in HHF1. Ref.31 Ref.34
VAR_031366
Natural variant7161G → V in HHF1. Ref.10
VAR_000100
Natural variant7191K → T in HHF1. Ref.33
VAR_031367
Natural variant8101D → N. Ref.14
VAR_008647
Natural variant8341R → C. Ref.14
VAR_008648
Natural variant8411R → G in HHF1. Ref.21
VAR_031368
Natural variant8891K → T in HHF1.
VAR_031369
Natural variant9561S → F in HHF1.
VAR_031370
Natural variant10231H → Y in TNDM2; overactive channel. Ref.35
VAR_029782
Natural variant11301T → P in HHF1. Ref.33
VAR_031371
Natural variant11381T → M in HHF1. Ref.16 Ref.17
VAR_008649
Natural variant11471L → R in HHF1. Ref.33
VAR_031372
Natural variant11821R → Q in TNDM2. Ref.35
VAR_029783
Natural variant12141R → Q in HHF1; severe. Ref.16 Ref.17 Ref.31
VAR_008650
Natural variant12141R → W in HHF1. Ref.31 Ref.34
VAR_031373
Natural variant12951N → K in HHF1. Ref.33
VAR_031374
Natural variant13361K → N in HHF1. Ref.31
VAR_031375
Natural variant13421G → E in HHF1; altered intracellular trafficking. Ref.29
VAR_031376
Natural variant13491L → Q in HHF1. Ref.34
VAR_031377
Natural variant13521R → H in LIH; partially impairs ATP-dependent potassium channel function. Ref.28
VAR_029784
Natural variant13521R → P in HHF1. Ref.18
Corresponds to variant rs28936370 [ dbSNP | Ensembl ].
VAR_008537
Natural variant13601V → G. Ref.12
VAR_008651
Natural variant13601V → M in HHF1.
VAR_015007
Natural variant13691A → S. Ref.2 Ref.3 Ref.4 Ref.6 Ref.11 Ref.12 Ref.14 Ref.15 Ref.20 Ref.22 Ref.30 Ref.33
Corresponds to variant rs757110 [ dbSNP | Ensembl ].
VAR_008652
Natural variant13781G → R in HHF1. Ref.17 Ref.34
VAR_008653
Natural variant13791R → C in TNDM2. Ref.35
VAR_029785
Natural variant13811G → S in HHF1. Ref.16 Ref.17
VAR_008654
Natural variant13841K → Q in HHF1. Ref.30
VAR_031378
Natural variant13851Missing in HHF1; does not alter surface expression but channels are not functional. Ref.27
VAR_029786
Natural variant13861S → F in HHF1.
VAR_031379
Natural variant13871Missing in HHF1; severe; high frequency in Ashkenazi Jewish patients; defective trafficking and lack of surface expression. Ref.12 Ref.16 Ref.17 Ref.24 Ref.31 Ref.34
VAR_008538
Natural variant13931R → H in HHF1; severe; loss of channel activity. Ref.16 Ref.17
VAR_008655
Natural variant14001G → R in HHF1. Ref.34
VAR_031380
Natural variant14181R → H in HHF1; altered intracellular trafficking. Ref.29
VAR_031381
Natural variant14201R → C in HHF1; modest impairment of channel function. Ref.18 Ref.21 Ref.22
Corresponds to variant rs28938469 [ dbSNP | Ensembl ].
VAR_008539
Natural variant14241I → V in PNDM; overactive channel. Ref.35
VAR_029787
Natural variant14361R → Q in HHF1; cannot form a functional channel, due to protein instability or defective transport to the membrane. Ref.22
VAR_015008
Natural variant14501L → P in HHF1. Ref.33
VAR_031382
Natural variant14571A → T in HHF1. Ref.26
VAR_031383
Natural variant14711D → H in HHF1. Ref.31
VAR_031384
Natural variant14711D → N in HHF1. Ref.31
VAR_031385
Natural variant14781G → R in HHF1; channels insensitive to metabolic inhibition and to activation by ADP. Ref.13
VAR_008656
Natural variant14861R → K in HHF1. Ref.30
VAR_031386
Natural variant14931R → Q in HHF1. Ref.34
VAR_031387
Natural variant14931R → W in HHF1; altered intracellular trafficking. Ref.18 Ref.21 Ref.29
Corresponds to variant rs28936371 [ dbSNP | Ensembl ].
VAR_008540
Natural variant15061E → K in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP. Ref.23 Ref.26
VAR_015009
Natural variant15071A → AAS in HHF1.
VAR_008657
Natural variant15431L → P in HHF1; reduced channels surface expression and response to ADP. Ref.25
VAR_015010
Natural variant15501V → D in HHF1. Ref.26
VAR_031388
Natural variant15511L → V in HHF1. Ref.26
VAR_031389
Natural variant15721V → I. Ref.12 Ref.20 Ref.33
Corresponds to variant rs8192690 [ dbSNP | Ensembl ].
VAR_008658

Experimental info

Sequence conflict301A → V in AAB02278. Ref.2
Sequence conflict301A → V in AAB02417. Ref.2
Sequence conflict301A → V in AAB02418. Ref.2
Sequence conflict1571F → L in AAB36699. Ref.3
Sequence conflict1571F → L in AAB36700. Ref.3
Sequence conflict1631G → A in AAB02278. Ref.2
Sequence conflict1631G → A in AAB02417. Ref.2
Sequence conflict1631G → A in AAB02418. Ref.2
Sequence conflict1671L → V in AAB02278. Ref.2
Sequence conflict1671L → V in AAB02417. Ref.2
Sequence conflict1671L → V in AAB02418. Ref.2
Sequence conflict2251L → P in AAB36699. Ref.3
Sequence conflict2251L → P in AAB36700. Ref.3
Sequence conflict2561A → V in AAB36699. Ref.3
Sequence conflict2561A → V in AAB36700. Ref.3
Sequence conflict4871S → T in AAB02278. Ref.2
Sequence conflict4871S → T in AAB02417. Ref.2
Sequence conflict4871S → T in AAB02418. Ref.2
Sequence conflict1069 – 10702VL → AV in AAB02278. Ref.2
Sequence conflict1069 – 10702VL → AV in AAB02417. Ref.2
Sequence conflict1069 – 10702VL → AV in AAB02418. Ref.2
Sequence conflict11721I → V in AAB36699. Ref.3
Sequence conflict11721I → V in AAB36700. Ref.3
Sequence conflict14101A → R in AAB36699. Ref.3
Sequence conflict14101A → R in AAB36700. Ref.3
Sequence conflict14181R → P in AAB36699. Ref.3
Sequence conflict14181R → P in AAB36700. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 6.
Checksum: 09CF2EC97899D1CE

FASTA1,581176,992
        10         20         30         40         50         60 
MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI 

        70         80         90        100        110        120 
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS 

       130        140        150        160        170        180 
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG 

       190        200        210        220        230        240 
MLLLVEVNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA 

       250        260        270        280        290        300 
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV 

       310        320        330        340        350        360 
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV 

       370        380        390        400        410        420 
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL 

       430        440        450        460        470        480 
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK 

       490        500        510        520        530        540 
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT 

       550        560        570        580        590        600 
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST 

       610        620        630        640        650        660 
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT 

       670        680        690        700        710        720 
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS 

       730        740        750        760        770        780 
SLLLAALGEM QKVSGAVFWS SLPDSEIGED PSPERETATD LDIRKRGPVA YASQKPWLLN 

       790        800        810        820        830        840 
ATVEENIIFE SPFNKQRYKM VIEACSLQPD IDILPHGDQT QIGERGINLS GGQRQRISVA 

       850        860        870        880        890        900 
RALYQHANVV FLDDPFSALD IHLSDHLMQA GILELLRDDK RTVVLVTHKL QYLPHADWII 

       910        920        930        940        950        960 
AMKDGTIQRE GTLKDFQRSE CQLFEHWKTL MNRQDQELEK ETVTERKATE PPQGLSRAMS 

       970        980        990       1000       1010       1020 
SRDGLLQDEE EEEEEAAESE EDDNLSSMLH QRAEIPWRAC AKYLSSAGIL LLSLLVFSQL 

      1030       1040       1050       1060       1070       1080 
LKHMVLVAID YWLAKWTDSA LTLTPAARNC SLSQECTLDQ TVYAMVFTVL CSLGIVLCLV 

      1090       1100       1110       1120       1130       1140 
TSVTVEWTGL KVAKRLHRSL LNRIILAPMR FFETTPLGSI LNRFSSDCNT IDQHIPSTLE 

      1150       1160       1170       1180       1190       1200 
CLSRSTLLCV SALAVISYVT PVFLVALLPL AIVCYFIQKY FRVASRDLQQ LDDTTQLPLL 

      1210       1220       1230       1240       1250       1260 
SHFAETVEGL TTIRAFRYEA RFQQKLLEYT DSNNIASLFL TAANRWLEVR MEYIGACVVL 

      1270       1280       1290       1300       1310       1320 
IAAVTSISNS LHRELSAGLV GLGLTYALMV SNYLNWMVRN LADMELQLGA VKRIHGLLKT 

      1330       1340       1350       1360       1370       1380 
EAESYEGLLA PSLIPKNWPD QGKIQIQNLS VRYDSSLKPV LKHVNALIAP GQKIGICGRT 

      1390       1400       1410       1420       1430       1440 
GSGKSSFSLA FFRMVDTFEG HIIIDGIDIA KLPLHTLRSR LSIILQDPVL FSGTIRFNLD 

      1450       1460       1470       1480       1490       1500 
PERKCSDSTL WEALEIAQLK LVVKALPGGL DAIITEGGEN FSQGQRQLFC LARAFVRKTS 

      1510       1520       1530       1540       1550       1560 
IFIMDEATAS IDMATENILQ KVVMTAFADR TVVTIAHRVH TILSADLVIV LKRGAILEFD 

      1570       1580 
KPEKLLSRKD SVFASFVRAD K 

« Hide

Isoform 2 [UniParc].

Checksum: 9DC018F3EE5B7176
Show »

FASTA1,582177,079
Isoform 3 (SUR1Delta2) [UniParc].

Checksum: 01266271000A63FC
Show »

FASTA505,468

References

« Hide 'large scale' references
[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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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]"Adenosine diphosphate as an intracellular regulator of insulin secretion."
Nichols C.G., Shyng S.-L., Nestorowicz A., Glaser B., Clement J.P. IV, Gonzalez G., Aguilar-Bryan L., Permutt M.A., Bryan J.
Science 272:1785-1787(1996) [PubMed] [Europe PMC] [Abstract]
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]"Genetic heterogeneity in familial hyperinsulinism."
Nestorowicz A., Glaser B., Wilson B.A., Shyng S.-L., Nichols C.G., Stanley C.A., Thornton P.S., Permutt M.A.
Hum. Mol. Genet. 7:1119-1128(1998) [PubMed] [Europe PMC] [Abstract]
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]"Clinical features of 52 neonates with hyperinsulinism."
de Lonlay-Debeney P., Poggi-Travert F., Fournet J.-C., Sempoux C., Vici C.D., Brunelle F., Touati G., Rahier J., Junien C., Nihoul-Fekete C., Robert J.-J., Saudubray J.-M.
N. Engl. J. Med. 340:1169-1175(1999) [PubMed] [Europe PMC] [Abstract]
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]"Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism."
Huopio H., Jaeaeskelaeinen J., Komulainen J., Miettinen R., Kaerkkaeinen P., Laakso M., Tapanainen P., Voutilainen R., Otonkoski T.
J. Clin. Endocrinol. Metab. 87:4502-4507(2002) [PubMed] [Europe PMC] [Abstract]
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]"Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity."
Tornovsky S., Crane A., Cosgrove K.E., Hussain K., Lavie J., Heyman M., Nesher Y., Kuchinski N., Ben-Shushan E., Shatz O., Nahari E., Potikha T., Zangen D., Tenenbaum-Rakover Y., de Vries L., Argente J., Gracia R., Landau H. expand/collapse author list , Eliakim A., Lindley K., Dunne M.J., Aguilar-Bryan L., Glaser B.
J. Clin. Endocrinol. Metab. 89:6224-6234(2004) [PubMed] [Europe PMC] [Abstract]
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]"Activating mutations in the ABCC8 gene in neonatal diabetes mellitus."
Babenko A.P., Polak M., Cave H., Busiah K., Czernichow P., Scharfmann R., Bryan J., Aguilar-Bryan L., Vaxillaire M., Froguel P.
N. Engl. J. Med. 355:456-466(2006) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

GeneReviews
ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
HM635782 mRNA. Translation: ADM67556.1.
L78207 mRNA. Translation: AAB02278.1.
L78243 expand/collapse EMBL AC list , 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 expand/collapse EMBL AC list , 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 expand/collapse EMBL AC list , 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.
RefSeqNP_000343.2. NM_000352.4.
NP_001274103.1. NM_001287174.1.
UniGeneHs.54470.

3D structure databases

ProteinModelPortalQ09428.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112700. 2 interactions.
DIPDIP-58642N.
STRING9606.ENSP00000374467.

Chemistry

BindingDBQ09428.
ChEMBLCHEMBL2095152.
DrugBankDB00171. Adenosine triphosphate.
DB01016. Glibenclamide.
DB01120. Gliclazide.
DB01252. Mitiglinide.
DB00731. Nateglinide.
DB00912. Repaglinide.

Protein family/group databases

TCDB3.A.1.208.4. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ09428.

Polymorphism databases

DMDM311033501.

Proteomic databases

PaxDbQ09428.
PRIDEQ09428.

Protocols and materials databases

DNASU6833.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000302539; ENSP00000303960; ENSG00000006071. [Q09428-2]
ENST00000389817; ENSP00000374467; ENSG00000006071. [Q09428-1]
GeneID6833.
KEGGhsa:6833.
UCSCuc001mnc.3. human. [Q09428-1]

Organism-specific databases

CTD6833.
GeneCardsGC11M017414.
H-InvDBHIX0035864.
HGNCHGNC:59. ABCC8.
HPACAB011451.
HPA042318.
MIM240800. phenotype.
256450. phenotype.
600509. gene.
602485. phenotype.
606176. phenotype.
610374. phenotype.
neXtProtNX_Q09428.
Orphanet276575. Autosomal dominant hyperinsulinism due to SUR1 deficiency.
79643. Autosomal recessive hyperinsulinism due to SUR1 deficiency.
276598. Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency.
552. MODY syndrome.
99885. Permanent neonatal diabetes mellitus.
99886. Transient neonatal diabetes mellitus.
PharmGKBPA24395.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1132.
HOVERGENHBG101342.
KOK05032.
OMALAFCGSE.
OrthoDBEOG7MWGW0.
PhylomeDBQ09428.
TreeFamTF105201.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_13685. Neuronal System.
REACT_15518. Transmembrane transport of small molecules.
SignaLinkQ09428.

Gene expression databases

ArrayExpressQ09428.
BgeeQ09428.
CleanExHS_ABCC8.
GenevestigatorQ09428.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. 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]
PfamPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
PRINTSPR01093. SULFNYLUR1.
PR01092. SULFNYLUREAR.
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
PROSITEPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABCC8.
GenomeRNAi6833.
NextBio26675.
PROQ09428.
SOURCESearch...

Entry information

Entry nameABCC8_HUMAN
AccessionPrimary (citable) accession number: Q09428
Secondary accession number(s): A6NMX8 expand/collapse secondary AC list , E3UYX6, O75948, Q16583
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 2, 2010
Last modified: April 16, 2014
This is version 150 of the entry and version 6 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM