Q09428 (ABCC8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-binding cassette sub-family C member 8

Alternative name(s):
Sulfonylurea receptor 1

Gene names

Name:	ABCC8
Synonyms:	HRINS, SUR, SUR1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1581 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 process	Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Diabetes mellitus Disease mutation
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
Molecular function	Receptor
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from electronic annotation. Source: GOC carbohydrate metabolic process Non-traceable author statement Ref.6. Source: ProtInc energy reserve metabolic process Traceable author statement. Source: Reactome regulation of insulin secretion Traceable author statement. Source: Reactome synaptic transmission Traceable author statement. Source: Reactome
Cellular_component	voltage-gated potassium channel complex Inferred from direct assay PubMed 20610380. Source: BHF-UCL
Molecular_function	ATP binding Traceable author statement PubMed 7502040. Source: ProtInc ATPase activity, coupled to transmembrane movement of substances Inferred from electronic annotation. Source: InterPro 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 1581	1580	ATP-binding cassette sub-family C member 8		PRO_0000093400
Regions
	Topological domain	2 – 34	33	Extracellular By similarity
	Transmembrane	35 – 55	21	Helical; Name=1; By similarity
	Topological domain	56 – 75	20	Cytoplasmic By similarity
	Transmembrane	76 – 96	21	Helical; Name=2; By similarity
	Topological domain	97 – 101	5	Extracellular By similarity
	Transmembrane	102 – 122	21	Helical; Name=3; By similarity
	Topological domain	123 – 134	12	Cytoplasmic By similarity
	Transmembrane	135 – 154	20	Helical; Name=4; By similarity
	Topological domain	155 – 167	13	Extracellular By similarity
	Transmembrane	168 – 194	27	Helical; Name=5; By similarity
	Topological domain	195 – 311	117	Cytoplasmic By similarity
	Transmembrane	312 – 331	20	Helical; Name=6; By similarity
	Topological domain	332 – 355	24	Extracellular By similarity
	Transmembrane	356 – 376	21	Helical; Name=7; By similarity
	Topological domain	377 – 434	58	Cytoplasmic By similarity
	Transmembrane	435 – 455	21	Helical; Name=8; By similarity
	Topological domain	456 – 458	3	Extracellular By similarity
	Transmembrane	459 – 479	21	Helical; Name=9; By similarity
	Topological domain	480 – 541	62	Cytoplasmic By similarity
	Transmembrane	542 – 562	21	Helical; Name=10; By similarity
	Topological domain	563 – 584	22	Extracellular By similarity
	Transmembrane	585 – 605	21	Helical; Name=11; By similarity
	Topological domain	606 – 1004	399	Cytoplasmic By similarity
	Transmembrane	1005 – 1025	21	Helical; Name=12; By similarity
	Topological domain	1026 – 1072	47	Extracellular By similarity
	Transmembrane	1073 – 1093	21	Helical; Name=13; By similarity
	Topological domain	1094 – 1137	44	Cytoplasmic By similarity
	Transmembrane	1138 – 1158	21	Helical; Name=14; By similarity
	Topological domain	1159	1	Extracellular By similarity
	Transmembrane	1160 – 1180	21	Helical; Name=15; By similarity
	Topological domain	1181 – 1251	71	Cytoplasmic By similarity
	Transmembrane	1252 – 1272	21	Helical; Name=16; By similarity
	Topological domain	1273 – 1276	4	Extracellular By similarity
	Transmembrane	1277 – 1297	21	Helical; Name=17; By similarity
	Topological domain	1298 – 1581	284	Cytoplasmic By similarity
	Domain	299 – 602	304	ABC transmembrane type-1 1
	Domain	679 – 929	251	ABC transporter 1
	Domain	1012 – 1306	295	ABC transmembrane type-1 2
	Domain	1344 – 1578	235	ABC transporter 2
	Nucleotide binding	713 – 720	8	ATP 1 Potential
	Nucleotide binding	1378 – 1385	8	ATP 2 Potential
Amino acid modifications
	Glycosylation	10	1	N-linked (GlcNAc...) By similarity
	Glycosylation	1049	1	N-linked (GlcNAc...) By similarity
Natural variations
	Alternative sequence	51 – 1581	1531	Missing in isoform 3.		VSP_044090
	Alternative sequence	740	1	S → SS in isoform 2.		VSP_000055
	Natural variant	7	1	G → R in HHF1. Ref.34		VAR_031349
	Natural variant	21	1	V → D in HHF1. Ref.34		VAR_031350
	Natural variant	27	1	F → S in HHF1. Ref.31 Ref.34		VAR_031351
	Natural variant	70	1	G → E in HHF1; altered intracellular trafficking. Ref.29		VAR_031352
	Natural variant	74	1	R → Q in HHF1. Ref.17		VAR_008639
	Natural variant	74	1	R → W in HHF1. Ref.31 Ref.33 Ref.34		VAR_031353
	Natural variant	86	1	V → A in PNDM. Ref.36		VAR_031354
	Natural variant	104	1	L → V. Corresponds to variant rs10400391 [ dbSNP | Ensembl ].		VAR_029777
	Natural variant	111	1	G → R in HHF1; altered intracellular trafficking. Ref.29 Ref.33		VAR_031355
	Natural variant	116	1	A → P in HHF1.		VAR_031356
	Natural variant	125	1	H → Q in HHF1; mild. Ref.16 Ref.17 Corresponds to variant rs60637558 [ dbSNP | Ensembl ].		VAR_008640
	Natural variant	132	1	F → 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 variant	187	1	V → D in HHF1; severe; high prevalence in Finland; loss of channel activity. Ref.19 Ref.26		VAR_008641
	Natural variant	188	1	N → S in HHF1; severe. Ref.16 Ref.17 Ref.31 Ref.33		VAR_008642
	Natural variant	213	1	L → R in PNDM. Ref.35		VAR_029779
	Natural variant	233	1	M → R in HHF1. Ref.33		VAR_031357
	Natural variant	275	1	R → Q. Ref.14		VAR_008643
	Natural variant	310	1	D → N in HHF1. Ref.33		VAR_031358
	Natural variant	406	1	N → D in HHF1. Ref.17		VAR_008644
	Natural variant	418	1	C → R in HHF1.		VAR_031359
	Natural variant	435	1	C → R in TNDM2. Ref.35		VAR_029780
	Natural variant	495	1	R → Q in HHF1. Ref.31		VAR_031360
	Natural variant	501	1	E → K in HHF1. Ref.31 Ref.34		VAR_031361
	Natural variant	503	1	L → P in HHF1. Ref.34		VAR_031362
	Natural variant	508	1	L → P in HHF1.		VAR_031363
	Natural variant	551	1	P → R in HHF1. Ref.33		VAR_031364
	Natural variant	560	1	V → M. Ref.14 Corresponds to variant rs4148619 [ dbSNP | Ensembl ].		VAR_008645
	Natural variant	582	1	L → V in TNDM2. Ref.35		VAR_029781
	Natural variant	591	1	F → L in HHF1. Ref.16 Ref.17		VAR_008646
	Natural variant	620	1	R → C in HHF1. Corresponds to variant rs58241708 [ dbSNP | Ensembl ].		VAR_031365
	Natural variant	673	1	D → N. Ref.15		VAR_015006
	Natural variant	686	1	F → S in HHF1. Ref.31 Ref.34		VAR_031366
	Natural variant	716	1	G → V in HHF1. Ref.10		VAR_000100
	Natural variant	719	1	K → T in HHF1. Ref.33		VAR_031367
	Natural variant	810	1	D → N. Ref.14		VAR_008647
	Natural variant	834	1	R → C. Ref.14		VAR_008648
	Natural variant	841	1	R → G in HHF1. Ref.21		VAR_031368
	Natural variant	889	1	K → T in HHF1.		VAR_031369
	Natural variant	956	1	S → F in HHF1.		VAR_031370
	Natural variant	1023	1	H → Y in TNDM2; overactive channel. Ref.35		VAR_029782
	Natural variant	1130	1	T → P in HHF1. Ref.33		VAR_031371
	Natural variant	1138	1	T → M in HHF1. Ref.16 Ref.17		VAR_008649
	Natural variant	1147	1	L → R in HHF1. Ref.33		VAR_031372
	Natural variant	1182	1	R → Q in TNDM2. Ref.35		VAR_029783
	Natural variant	1214	1	R → Q in HHF1; severe. Ref.16 Ref.17 Ref.31		VAR_008650
	Natural variant	1214	1	R → W in HHF1. Ref.31 Ref.34		VAR_031373
	Natural variant	1295	1	N → K in HHF1. Ref.33		VAR_031374
	Natural variant	1336	1	K → N in HHF1. Ref.31		VAR_031375
	Natural variant	1342	1	G → E in HHF1; altered intracellular trafficking. Ref.29		VAR_031376
	Natural variant	1349	1	L → Q in HHF1. Ref.34		VAR_031377
	Natural variant	1352	1	R → H in LIH; partially impairs ATP-dependent potassium channel function. Ref.28		VAR_029784
	Natural variant	1352	1	R → P in HHF1. Ref.18 Corresponds to variant rs28936370 [ dbSNP | Ensembl ].		VAR_008537
	Natural variant	1360	1	V → G. Ref.12		VAR_008651
	Natural variant	1360	1	V → M in HHF1.		VAR_015007
	Natural variant	1369	1	A → 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 variant	1378	1	G → R in HHF1. Ref.17 Ref.34		VAR_008653
	Natural variant	1379	1	R → C in TNDM2. Ref.35		VAR_029785
	Natural variant	1381	1	G → S in HHF1. Ref.16 Ref.17		VAR_008654
	Natural variant	1384	1	K → Q in HHF1. Ref.30		VAR_031378
	Natural variant	1385	1	Missing in HHF1; does not alter surface expression but channels are not functional. Ref.27		VAR_029786
	Natural variant	1386	1	S → F in HHF1.		VAR_031379
	Natural variant	1387	1	Missing 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 variant	1393	1	R → H in HHF1; severe; loss of channel activity. Ref.16 Ref.17		VAR_008655
	Natural variant	1400	1	G → R in HHF1. Ref.34		VAR_031380
	Natural variant	1418	1	R → H in HHF1; altered intracellular trafficking. Ref.29		VAR_031381
	Natural variant	1420	1	R → C in HHF1; modest impairment of channel function. Ref.18 Ref.21 Ref.22 Corresponds to variant rs28938469 [ dbSNP | Ensembl ].		VAR_008539
	Natural variant	1424	1	I → V in PNDM; overactive channel. Ref.35		VAR_029787
	Natural variant	1436	1	R → Q in HHF1; cannot form a functional channel, due to protein instability or defective transport to the membrane. Ref.22		VAR_015008
	Natural variant	1450	1	L → P in HHF1. Ref.33		VAR_031382
	Natural variant	1457	1	A → T in HHF1. Ref.26		VAR_031383
	Natural variant	1471	1	D → H in HHF1. Ref.31		VAR_031384
	Natural variant	1471	1	D → N in HHF1. Ref.31		VAR_031385
	Natural variant	1478	1	G → R in HHF1; channels insensitive to metabolic inhibition and to activation by ADP. Ref.13		VAR_008656
	Natural variant	1486	1	R → K in HHF1. Ref.30		VAR_031386
	Natural variant	1493	1	R → Q in HHF1. Ref.34		VAR_031387
	Natural variant	1493	1	R → W in HHF1; altered intracellular trafficking. Ref.18 Ref.21 Ref.29 Corresponds to variant rs28936371 [ dbSNP | Ensembl ].		VAR_008540
	Natural variant	1506	1	E → K in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP. Ref.23 Ref.26		VAR_015009
	Natural variant	1507	1	A → AAS in HHF1.		VAR_008657
	Natural variant	1543	1	L → P in HHF1; reduced channels surface expression and response to ADP. Ref.25		VAR_015010
	Natural variant	1550	1	V → D in HHF1. Ref.26		VAR_031388
	Natural variant	1551	1	L → V in HHF1. Ref.26		VAR_031389
	Natural variant	1572	1	V → I. Ref.12 Ref.20 Ref.33 Corresponds to variant rs8192690 [ dbSNP | Ensembl ].		VAR_008658
Experimental info
	Sequence conflict	30	1	A → V in AAB02278. Ref.2
	Sequence conflict	30	1	A → V in AAB02417. Ref.2
	Sequence conflict	30	1	A → V in AAB02418. Ref.2
	Sequence conflict	157	1	F → L in AAB36699. Ref.3
	Sequence conflict	157	1	F → L in AAB36700. Ref.3
	Sequence conflict	163	1	G → A in AAB02278. Ref.2
	Sequence conflict	163	1	G → A in AAB02417. Ref.2
	Sequence conflict	163	1	G → A in AAB02418. Ref.2
	Sequence conflict	167	1	L → V in AAB02278. Ref.2
	Sequence conflict	167	1	L → V in AAB02417. Ref.2
	Sequence conflict	167	1	L → V in AAB02418. Ref.2
	Sequence conflict	225	1	L → P in AAB36699. Ref.3
	Sequence conflict	225	1	L → P in AAB36700. Ref.3
	Sequence conflict	256	1	A → V in AAB36699. Ref.3
	Sequence conflict	256	1	A → V in AAB36700. Ref.3
	Sequence conflict	487	1	S → T in AAB02278. Ref.2
	Sequence conflict	487	1	S → T in AAB02417. Ref.2
	Sequence conflict	487	1	S → T in AAB02418. Ref.2
	Sequence conflict	1069 – 1070	2	VL → AV in AAB02278. Ref.2
	Sequence conflict	1069 – 1070	2	VL → AV in AAB02417. Ref.2
	Sequence conflict	1069 – 1070	2	VL → AV in AAB02418. Ref.2
	Sequence conflict	1172	1	I → V in AAB36699. Ref.3
	Sequence conflict	1172	1	I → V in AAB36700. Ref.3
	Sequence conflict	1410	1	A → R in AAB36699. Ref.3
	Sequence conflict	1410	1	A → R in AAB36700. Ref.3
	Sequence conflict	1418	1	R → P in AAB36699. Ref.3
	Sequence conflict	1418	1	R → P in AAB36700. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 2, 2010. Version 6. Checksum: 09CF2EC97899D1CE	FASTA	1,581	176,992
	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
	Isoform 2 [UniParc]. Checksum: 9DC018F3EE5B7176	FASTA	1,582	177,079
	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 SSLPDSEIGE DPSPERETAT DLDIRKRGPV AYASQKPWLL 790 800 810 820 830 840 NATVEENIIF ESPFNKQRYK MVIEACSLQP DIDILPHGDQ TQIGERGINL SGGQRQRISV 850 860 870 880 890 900 ARALYQHANV VFLDDPFSAL DIHLSDHLMQ AGILELLRDD KRTVVLVTHK LQYLPHADWI 910 920 930 940 950 960 IAMKDGTIQR EGTLKDFQRS ECQLFEHWKT LMNRQDQELE KETVTERKAT EPPQGLSRAM 970 980 990 1000 1010 1020 SSRDGLLQDE EEEEEEAAES EEDDNLSSML HQRAEIPWRA CAKYLSSAGI LLLSLLVFSQ 1030 1040 1050 1060 1070 1080 LLKHMVLVAI DYWLAKWTDS ALTLTPAARN CSLSQECTLD QTVYAMVFTV LCSLGIVLCL 1090 1100 1110 1120 1130 1140 VTSVTVEWTG LKVAKRLHRS LLNRIILAPM RFFETTPLGS ILNRFSSDCN TIDQHIPSTL 1150 1160 1170 1180 1190 1200 ECLSRSTLLC VSALAVISYV TPVFLVALLP LAIVCYFIQK YFRVASRDLQ QLDDTTQLPL 1210 1220 1230 1240 1250 1260 LSHFAETVEG LTTIRAFRYE ARFQQKLLEY TDSNNIASLF LTAANRWLEV RMEYIGACVV 1270 1280 1290 1300 1310 1320 LIAAVTSISN SLHRELSAGL VGLGLTYALM VSNYLNWMVR NLADMELQLG AVKRIHGLLK 1330 1340 1350 1360 1370 1380 TEAESYEGLL APSLIPKNWP DQGKIQIQNL SVRYDSSLKP VLKHVNALIA PGQKIGICGR 1390 1400 1410 1420 1430 1440 TGSGKSSFSL AFFRMVDTFE GHIIIDGIDI AKLPLHTLRS RLSIILQDPV LFSGTIRFNL 1450 1460 1470 1480 1490 1500 DPERKCSDST LWEALEIAQL KLVVKALPGG LDAIITEGGE NFSQGQRQLF CLARAFVRKT 1510 1520 1530 1540 1550 1560 SIFIMDEATA SIDMATENIL QKVVMTAFAD RTVVTIAHRV HTILSADLVI VLKRGAILEF 1570 1580 DKPEKLLSRK DSVFASFVRA DK
	Isoform 3 (SUR1Delta2) [UniParc]. Checksum: 01266271000A63FC	FASTA	50	5,468
	10 20 30 40 50 MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG

References

	« Hide 'large scale' referencesShow '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. , 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. , 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 , 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.
IPI	IPI00219696. IPI00871283. IPI00983260.
RefSeq	NP_000343.2. NM_000352.3.
UniGene	Hs.54470.
3D structure databases
ProteinModelPortal	Q09428.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-58642N.
STRING	9606.ENSP00000374467.
Protein family/group databases
TCDB	3.A.1.208.4. ATP-binding cassette (ABC) superfamily.
PTM databases
PhosphoSite	Q09428.
Polymorphism databases
DMDM	311033501.
Proteomic databases
PaxDb	Q09428.
PRIDE	Q09428.
Protocols and materials databases
DNASU	6833.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302539; ENSP00000303960; ENSG00000006071. ENST00000389817; ENSP00000374467; ENSG00000006071.
GeneID	6833.
KEGG	hsa:6833.
UCSC	uc001mnc.3. human.
Organism-specific databases
CTD	6833.
GeneCards	GC11M017414.
H-InvDB	HIX0035864.
HGNC	HGNC:59. ABCC8.
HPA	CAB011451.
MIM	240800. phenotype. 256450. phenotype. 600509. gene. 602485. phenotype. 606176. phenotype. 610374. phenotype.
neXtProt	NX_Q09428.
Orphanet	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.
PharmGKB	PA24395.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1132.
HOVERGEN	HBG101342.
KO	K05032.
OMA	AYRVDQG.
OrthoDB	EOG4K6G3C.
Enzyme and pathway databases
Pathway_Interaction_DB	hnf3bpathway. FOXA2 and FOXA3 transcription factor networks.
Reactome	REACT_111217. Metabolism. REACT_13685. Neuronal System. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q09428.
Bgee	Q09428.
CleanEx	HS_ABCC8.
Genevestigator	Q09428.
GermOnline	ENSG00000006071. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR017940. ABC_transporter_type1. IPR001140. ABC_transptr_TM_dom. IPR011527. ABC_transptrTM_dom_typ1. IPR000388. Sulphorea_rcpt. IPR000844. Surea_rcpt-1. [Graphical view]
Pfam	PF00664. ABC_membrane. 2 hits. PF00005. ABC_tran. 2 hits. [Graphical view]
PRINTS	PR01093. SULFNYLUR1. PR01092. SULFNYLUREAR.
SMART	SM00382. AAA. 2 hits. [Graphical view]
SUPFAM	SSF90123. ABC_TM_1. 2 hits.
PROSITE	PS50929. ABC_TM1F. 2 hits. PS00211. ABC_TRANSPORTER_1. 2 hits. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q09428.
ChEMBL	CHEMBL2071.
DrugBank	DB00171. Adenosine triphosphate. DB01016. Glibenclamide. DB01120. Gliclazide. DB01252. Mitiglinide. DB00731. Nateglinide. DB00912. Repaglinide.
GenomeRNAi	6833.
NextBio	26675.
SOURCE	Search...

Entry information

Entry name

ABCC8_HUMAN

Accession

Primary (citable) accession number: Q09428
Secondary accession number(s): A6NMX8 , E3UYX6, O75948, Q16583

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 139 of the entry and version 6 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.