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Q09428

- ABCC8_HUMAN

UniProt

Q09428 - ABCC8_HUMAN

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
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    • History
      Entry version 155 (01 Oct 2014)
      Sequence version 6 (02 Nov 2010)
      Previous versions | rss
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    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

    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

    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.
    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

    ArrayExpressiQ09428.
    BgeeiQ09428.
    CleanExiHS_ABCC8.
    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.
    HOVERGENiHBG101342.
    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

    MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG     50
    WGSQSSKVHI HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE 100
    SHHLHLYMPA GMAFMAAVTS VVYYHNIETS NFPKLLIALL VYWTLAFITK 150
    TIKFVKFLDH AIGFSQLRFC LTGLLVILYG MLLLVEVNVI RVRRYIFFKT 200
    PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA HKKPIDLRAI 250
    GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV 300
    LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE 350
    FLANAYVLAV LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM 400
    HLSTSNLSMG EMTAGQICNL VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI 450
    LLYYILGVSA LIGAAVIILL APVQYFVATK LSQAQRSTLE YSNERLKQTN 500
    EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT SISIFMNTAI 550
    PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST 600
    VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR 650
    PAREDCRGLT GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT 700
    IRIPRGQLTM IVGQVGCGKS SLLLAALGEM QKVSGAVFWS SLPDSEIGED 750
    PSPERETATD LDIRKRGPVA YASQKPWLLN ATVEENIIFE SPFNKQRYKM 800
    VIEACSLQPD IDILPHGDQT QIGERGINLS GGQRQRISVA RALYQHANVV 850
    FLDDPFSALD IHLSDHLMQA GILELLRDDK RTVVLVTHKL QYLPHADWII 900
    AMKDGTIQRE GTLKDFQRSE CQLFEHWKTL MNRQDQELEK ETVTERKATE 950
    PPQGLSRAMS SRDGLLQDEE EEEEEAAESE EDDNLSSMLH QRAEIPWRAC 1000
    AKYLSSAGIL LLSLLVFSQL LKHMVLVAID YWLAKWTDSA LTLTPAARNC 1050
    SLSQECTLDQ TVYAMVFTVL CSLGIVLCLV TSVTVEWTGL KVAKRLHRSL 1100
    LNRIILAPMR FFETTPLGSI LNRFSSDCNT IDQHIPSTLE CLSRSTLLCV 1150
    SALAVISYVT PVFLVALLPL AIVCYFIQKY FRVASRDLQQ LDDTTQLPLL 1200
    SHFAETVEGL TTIRAFRYEA RFQQKLLEYT DSNNIASLFL TAANRWLEVR 1250
    MEYIGACVVL IAAVTSISNS LHRELSAGLV GLGLTYALMV SNYLNWMVRN 1300
    LADMELQLGA VKRIHGLLKT EAESYEGLLA PSLIPKNWPD QGKIQIQNLS 1350
    VRYDSSLKPV LKHVNALIAP GQKIGICGRT GSGKSSFSLA FFRMVDTFEG 1400
    HIIIDGIDIA KLPLHTLRSR LSIILQDPVL FSGTIRFNLD PERKCSDSTL 1450
    WEALEIAQLK LVVKALPGGL DAIITEGGEN FSQGQRQLFC LARAFVRKTS 1500
    IFIMDEATAS IDMATENILQ KVVMTAFADR TVVTIAHRVH TILSADLVIV 1550
    LKRGAILEFD KPEKLLSRKD SVFASFVRAD K 1581
    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]
    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]
    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 ]
    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 CHEMBL2096972.
    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 ]
    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.
    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.
    HOVERGENi HBG101342.
    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

    ArrayExpressi Q09428.
    Bgeei Q09428.
    CleanExi HS_ABCC8.
    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

    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 1, 2014
    This is version 155 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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