UniProtKB - O60706 (ABCC9_HUMAN)
ATP-binding cassette sub-family C member 9
ABCC9
Functioni
Miscellaneous
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 705 – 712 | ATP 1PROSITE-ProRule annotation | 8 | |
Nucleotide bindingi | 1346 – 1353 | ATP 2PROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATPase activity Source: ARUK-UCL
- ATPase-coupled cation transmembrane transporter activity Source: ARUK-UCL
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATP binding Source: UniProtKB-KW
- ion channel binding Source: BHF-UCL
- potassium channel activity Source: Ensembl
- potassium channel regulator activity Source: BHF-UCL
- sulfonylurea receptor activity Source: BHF-UCL
GO - Biological processi
- cardiac conduction Source: ARUK-UCL
- cation transmembrane transport Source: ARUK-UCL
- defense response to virus Source: MGI
- inorganic cation transmembrane transport Source: ARUK-UCL
- potassium ion import across plasma membrane Source: BHF-UCL
- potassium ion transmembrane transport Source: ARUK-UCL
- regulation of cardiac conduction Source: Reactome
- response to ATP Source: ARUK-UCL
- transmembrane transport Source: GO_Central
- transport across blood-brain barrier Source: ARUK-UCL
Keywordsi
Molecular function | Receptor |
Biological process | Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O60706 |
Reactomei | R-HSA-1296025, ATP sensitive Potassium channels R-HSA-382556, ABC-family proteins mediated transport R-HSA-5578775, Ion homeostasis R-HSA-5678420, Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome |
Protein family/group databases
TCDBi | 3.A.1.208.23, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: ATP-binding cassette sub-family C member 9Alternative name(s): Sulfonylurea receptor 2 |
Gene namesi | Name:ABCC9 Synonyms:SUR2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:60, ABCC9 |
MIMi | 601439, gene |
neXtProti | NX_O60706 |
VEuPathDBi | HostDB:ENSG00000069431.10 |
Subcellular locationi
Other locations
- Membrane PROSITE-ProRule annotation; Multi-pass membrane protein PROSITE-ProRule annotation
Plasma Membrane
- inward rectifying potassium channel Source: BHF-UCL
- plasma membrane Source: Reactome
Other locations
- membrane Source: GO_Central
- potassium ion-transporting ATPase complex Source: ARUK-UCL
- sarcomere Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 30 | ExtracellularSequence analysisAdd BLAST | 30 | |
Transmembranei | 31 – 51 | Helical; Name=1PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 52 – 72 | CytoplasmicSequence analysisAdd BLAST | 21 | |
Transmembranei | 73 – 93 | Helical; Name=2PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 94 – 101 | ExtracellularSequence analysis | 8 | |
Transmembranei | 102 – 122 | Helical; Name=3PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 123 – 132 | CytoplasmicSequence analysis | 10 | |
Transmembranei | 133 – 153 | Helical; Name=4PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 154 – 167 | ExtracellularSequence analysisAdd BLAST | 14 | |
Transmembranei | 168 – 188 | Helical; Name=5PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 189 – 301 | CytoplasmicSequence analysisAdd BLAST | 113 | |
Transmembranei | 302 – 322 | Helical; Name=6PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 323 – 350 | ExtracellularSequence analysisAdd BLAST | 28 | |
Transmembranei | 351 – 371 | Helical; Name=7PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 372 – 423 | CytoplasmicSequence analysisAdd BLAST | 52 | |
Transmembranei | 424 – 444 | Helical; Name=8PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 445 – 455 | ExtracellularSequence analysisAdd BLAST | 11 | |
Transmembranei | 456 – 476 | Helical; Name=9PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 477 – 531 | CytoplasmicSequence analysisAdd BLAST | 55 | |
Transmembranei | 532 – 552 | Helical; Name=10PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 553 – 571 | ExtracellularSequence analysisAdd BLAST | 19 | |
Transmembranei | 572 – 592 | Helical; Name=11PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 593 – 990 | CytoplasmicSequence analysisAdd BLAST | 398 | |
Transmembranei | 991 – 1011 | Helical; Name=12PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 1012 – 1034 | ExtracellularSequence analysisAdd BLAST | 23 | |
Transmembranei | 1035 – 1055 | Helical; Name=13PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 1056 – 1127 | CytoplasmicSequence analysisAdd BLAST | 72 | |
Transmembranei | 1128 – 1148 | Helical; Name=14PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 1149 – 1245 | ExtracellularSequence analysisAdd BLAST | 97 | |
Transmembranei | 1246 – 1266 | Helical; Name=15PROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 1267 – 1549 | CytoplasmicSequence analysisAdd BLAST | 283 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Cardiomyopathy, dilated 1O (CMD1O)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018483 | 1513 | A → T in CMD1O. 1 PublicationCorresponds to variant dbSNP:rs72559751Ensembl. | 1 |
Atrial fibrillation, familial, 12 (ATFB12)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066210 | 1547 | T → I in ATFB12; compromises adenine nucleotide-dependent induction of KATP current; mutant ABCC9 that is co-expressed with KCNJ11 pore generates an aberrant channel that retains ATP-induced inhibition of potassium current, but shows a blunted response to ADP. 1 PublicationCorresponds to variant dbSNP:rs387906805EnsemblClinVar. | 1 |
Hypertrichotic osteochondrodysplasia (HTOCD)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068485 | 60 | H → Y in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907230EnsemblClinVar. | 1 | |
Natural variantiVAR_068486 | 207 | D → E in HTOCD. 1 Publication | 1 | |
Natural variantiVAR_068487 | 380 | G → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs1165205076Ensembl. | 1 | |
Natural variantiVAR_068488 | 432 | P → L in HTOCD; mutant channels show reduced ATP sensitivity; rat ABCC9 construct containing this mutation shows gain of function. 2 Publications | 1 | |
Natural variantiVAR_068489 | 478 | A → V in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant dbSNP:rs387907211EnsemblClinVar. | 1 | |
Natural variantiVAR_068490 | 1020 | S → P in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907229EnsemblClinVar. | 1 | |
Natural variantiVAR_068491 | 1039 | F → S in HTOCD. 1 Publication | 1 | |
Natural variantiVAR_068492 | 1043 | C → Y in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant dbSNP:rs387907210EnsemblClinVar. | 1 | |
Natural variantiVAR_068493 | 1054 | S → Y in HTOCD. 1 Publication | 1 | |
Natural variantiVAR_068494 | 1116 | R → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907228EnsemblClinVar. | 1 | |
Natural variantiVAR_068495 | 1116 | R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 PublicationCorresponds to variant dbSNP:rs387907227EnsemblClinVar. | 1 | |
Natural variantiVAR_068496 | 1154 | R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 PublicationsCorresponds to variant dbSNP:rs387907209EnsemblClinVar. | 1 | |
Natural variantiVAR_068497 | 1154 | R → W in HTOCD. 2 PublicationsCorresponds to variant dbSNP:rs387907208EnsemblClinVar. | 1 |
Keywords - Diseasei
Atrial fibrillation, Cardiomyopathy, Disease variantOrganism-specific databases
DisGeNETi | 10060 |
GeneReviewsi | ABCC9 |
MalaCardsi | ABCC9 |
MIMi | 239850, phenotype 608569, phenotype 614050, phenotype |
OpenTargetsi | ENSG00000069431 |
Orphaneti | 965, Acromegaloid facial appearance syndrome 130, Brugada syndrome 334, Familial atrial fibrillation 154, Familial isolated dilated cardiomyopathy 966, Hypertrichosis-acromegaloid facial appearance syndrome 1517, Hypertrichotic osteochondrodysplasia, Cantu type |
PharmGKBi | PA396 |
Miscellaneous databases
Pharosi | O60706, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1971 |
DrugBanki | DB00171, ATP DB01016, Glyburide DB09220, Nicorandil |
DrugCentrali | O60706 |
GuidetoPHARMACOLOGYi | 2746 |
Genetic variation databases
BioMutai | ABCC9 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000093402 | 1 – 1549 | ATP-binding cassette sub-family C member 9Add BLAST | 1549 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 9 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 326 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 330 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 333 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 334 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | O60706 |
MassIVEi | O60706 |
PaxDbi | O60706 |
PeptideAtlasi | O60706 |
PRIDEi | O60706 |
ProteomicsDBi | 49533 [O60706-1] 49534 [O60706-2] |
PTM databases
CarbonylDBi | O60706 |
GlyGeni | O60706, 6 sites, 1 O-linked glycan (1 site) |
iPTMneti | O60706 |
PhosphoSitePlusi | O60706 |
Expressioni
Gene expression databases
Bgeei | ENSG00000069431, Expressed in heart and 155 other tissues |
ExpressionAtlasi | O60706, baseline and differential |
Genevisiblei | O60706, HS |
Organism-specific databases
HPAi | ENSG00000069431, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with KCNJ11.
1 PublicationGO - Molecular functioni
- ion channel binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 115371, 3 interactors |
ComplexPortali | CPX-197, Inward rectifying potassium channel complex, Kir6.2-SUR2A [O60706-1] CPX-199, Inward rectifying potassium channel complex, Kir6.2-SUR2B [O60706-2] |
CORUMi | O60706 |
IntActi | O60706, 2 interactors |
STRINGi | 9606.ENSP00000261200 |
Chemistry databases
BindingDBi | O60706 |
Miscellaneous databases
RNActi | O60706, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 297 – 597 | ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST | 301 | |
Domaini | 672 – 912 | ABC transporter 1PROSITE-ProRule annotationAdd BLAST | 241 | |
Domaini | 994 – 1274 | ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST | 281 | |
Domaini | 1312 – 1546 | ABC transporter 2PROSITE-ProRule annotationAdd BLAST | 235 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0054, Eukaryota |
GeneTreei | ENSGT00940000156680 |
HOGENOMi | CLU_000604_27_6_1 |
InParanoidi | O60706 |
OMAi | CWCYLSS |
OrthoDBi | 801938at2759 |
PhylomeDBi | O60706 |
TreeFami | TF105201 |
Family and domain databases
Gene3Di | 1.20.1560.10, 2 hits |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR011527, ABC1_TM_dom IPR036640, ABC1_TM_sf IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR001475, ABCC9 IPR027417, P-loop_NTPase IPR000388, Sulphorea_rcpt |
PANTHERi | PTHR24223:SF173, PTHR24223:SF173, 1 hit |
Pfami | View protein in Pfam PF00664, ABC_membrane, 2 hits PF00005, ABC_tran, 2 hits |
PRINTSi | PR01094, SULFNYLUR2 PR01092, SULFNYLUREAR |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF52540, SSF52540, 2 hits SSF90123, SSF90123, 2 hits |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 2 hits PS00211, ABC_TRANSPORTER_1, 2 hits PS50893, ABC_TRANSPORTER_2, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG
60 70 80 90 100
SQSSKVQIHH NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR
110 120 130 140 150
HLHLFMPAVM GFVATTTSIV YYHNIETSNF PKLLLALFLY WVMAFITKTI
160 170 180 190 200
KLVKYCQSGL DISNLRFCIT GMMVILNGLL MAVEINVIRV RRYVFFMNPQ
210 220 230 240 250
KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK KPIDLKAIGK
260 270 280 290 300
LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS
310 320 330 340 350
STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN
360 370 380 390 400
AYVLAVLLFL ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST
410 420 430 440 450
SNLSMGEMTL GQINNLVAIE TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN
460 470 480 490 500
LLGSSALVGA AVIVLLAPIQ YFIATKLAEA QKSTLDYSTE RLKKTNEILK
510 520 530 540 550
GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI FMNAAIPIAA
560 570 580 590 600
VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII
610 620 630 640 650
SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY
660 670 680 690 700
HLDSYEQSTR RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL
710 720 730 740 750
TMIVGQVGCG KSSLLLAILG EMQTLEGKVH WSNVNESEPS FEATRSRNRY
760 770 780 790 800
SVAYAAQKPW LLNATVEENI TFGSPFNKQR YKAVTDACSL QPDIDLLPFG
810 820 830 840 850
DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS ALDIHLSDHL
860 870 880 890 900
MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ
910 920 930 940 950
TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM
960 970 980 990 1000
EDEDEEEEEE EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS
1010 1020 1030 1040 1050
KLLKHSVIVA IDYWLATWTS EYSINNTGKA DQTYYVAGFS ILCGAGIFLC
1060 1070 1080 1090 1100
LVTSLTVEWM GLTAAKNLHH NLLNKIILGP IRFFDTTPLG LILNRFSADT
1110 1120 1130 1140 1150
NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL PLGVAFYFIQ
1160 1170 1180 1190 1200
KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE
1210 1220 1230 1240 1250
LTDTNNIAYL FLSAANRWLE VRTDYLGACI VLTASIASIS GSSNSGLVGL
1260 1270 1280 1290 1300
GLLYALTITN YLNWVVRNLA DLEVQMGAVK KVNSFLTMES ENYEGTMDPS
1310 1320 1330 1340 1350
QVPEHWPQEG EIKIHDLCVR YENNLKPVLK HVKAYIKPGQ KVGICGRTGS
1360 1370 1380 1390 1400
GKSSLSLAFF RMVDIFDGKI VIDGIDISKL PLHTLRSRLS IILQDPILFS
1410 1420 1430 1440 1450
GSIRFNLDPE CKCTDDRLWE ALEIAQLKNM VKSLPGGLDA VVTEGGENFS
1460 1470 1480 1490 1500
VGQRQLFCLA RAFVRKSSIL IMDEATASID MATENILQKV VMTAFADRTV
1510 1520 1530 1540
VTIAHRVSSI MDAGLVLVFS EGILVECDTV PNLLAHKNGL FSTLVMTNK
The sequence of this isoform differs from the canonical sequence as follows:
1508-1549: SSIMDAGLVL...LFSTLVMTNK → HTILTADLVI...VFASFVRADM
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YFV4 | H0YFV4_HUMAN | ATP-binding cassette sub-family C m... | ABCC9 | 1,176 | Annotation score: | ||
Q8N4N7 | Q8N4N7_HUMAN | ABCC9 protein | ABCC9 | 149 | Annotation score: | ||
G3V1N6 | G3V1N6_HUMAN | ATP-binding cassette sub-family C m... | ABCC9 hCG_24790 | 170 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 586 | F → S in AAC16057 (PubMed:9457174).Curated | 1 | |
Sequence conflicti | 586 | F → S in AAC16058 (PubMed:9457174).Curated | 1 | |
Sequence conflicti | 589 | S → F in AAC16057 (PubMed:9457174).Curated | 1 | |
Sequence conflicti | 589 | S → F in AAC16058 (PubMed:9457174).Curated | 1 | |
Sequence conflicti | 1503 | I → M in AAC16057 (PubMed:9457174).Curated | 1 | |
Sequence conflicti | 1503 | I → M in AAC16058 (PubMed:9457174).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068485 | 60 | H → Y in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907230EnsemblClinVar. | 1 | |
Natural variantiVAR_068486 | 207 | D → E in HTOCD. 1 Publication | 1 | |
Natural variantiVAR_068487 | 380 | G → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs1165205076Ensembl. | 1 | |
Natural variantiVAR_068488 | 432 | P → L in HTOCD; mutant channels show reduced ATP sensitivity; rat ABCC9 construct containing this mutation shows gain of function. 2 Publications | 1 | |
Natural variantiVAR_068489 | 478 | A → V in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant dbSNP:rs387907211EnsemblClinVar. | 1 | |
Natural variantiVAR_068490 | 1020 | S → P in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907229EnsemblClinVar. | 1 | |
Natural variantiVAR_068491 | 1039 | F → S in HTOCD. 1 Publication | 1 | |
Natural variantiVAR_068492 | 1043 | C → Y in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant dbSNP:rs387907210EnsemblClinVar. | 1 | |
Natural variantiVAR_068493 | 1054 | S → Y in HTOCD. 1 Publication | 1 | |
Natural variantiVAR_048143 | 1108 | P → S. Corresponds to variant dbSNP:rs35404804Ensembl. | 1 | |
Natural variantiVAR_068494 | 1116 | R → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907228EnsemblClinVar. | 1 | |
Natural variantiVAR_068495 | 1116 | R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 PublicationCorresponds to variant dbSNP:rs387907227EnsemblClinVar. | 1 | |
Natural variantiVAR_068496 | 1154 | R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 PublicationsCorresponds to variant dbSNP:rs387907209EnsemblClinVar. | 1 | |
Natural variantiVAR_068497 | 1154 | R → W in HTOCD. 2 PublicationsCorresponds to variant dbSNP:rs387907208EnsemblClinVar. | 1 | |
Natural variantiVAR_083082 | 1160 | L → R Unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780799175Ensembl. | 1 | |
Natural variantiVAR_018483 | 1513 | A → T in CMD1O. 1 PublicationCorresponds to variant dbSNP:rs72559751Ensembl. | 1 | |
Natural variantiVAR_066210 | 1547 | T → I in ATFB12; compromises adenine nucleotide-dependent induction of KATP current; mutant ABCC9 that is co-expressed with KCNJ11 pore generates an aberrant channel that retains ATP-induced inhibition of potassium current, but shows a blunted response to ADP. 1 PublicationCorresponds to variant dbSNP:rs387906805EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000058 | 1508 – 1549 | SSIMD…VMTNK → HTILTADLVIVMKRGNILEY DTPESLLAQENGVFASFVRA DM in isoform SUR2B. CuratedAdd BLAST | 42 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000261200; ENSP00000261200; ENSG00000069431 [O60706-2] ENST00000261201; ENSP00000261201; ENSG00000069431 [O60706-1] |
GeneIDi | 10060 |
KEGGi | hsa:10060 |
UCSCi | uc001rfh.4, human [O60706-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Protein Spotlight On The Other Side - Issue 139 of June 2012 |
ABCMdb Database for mutations in ABC proteins |
Sequence databases
3D structure databases
SMRi | O60706 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115371, 3 interactors |
ComplexPortali | CPX-197, Inward rectifying potassium channel complex, Kir6.2-SUR2A [O60706-1] CPX-199, Inward rectifying potassium channel complex, Kir6.2-SUR2B [O60706-2] |
CORUMi | O60706 |
IntActi | O60706, 2 interactors |
STRINGi | 9606.ENSP00000261200 |
Chemistry databases
BindingDBi | O60706 |
ChEMBLi | CHEMBL1971 |
DrugBanki | DB00171, ATP DB01016, Glyburide DB09220, Nicorandil |
DrugCentrali | O60706 |
GuidetoPHARMACOLOGYi | 2746 |
Protein family/group databases
TCDBi | 3.A.1.208.23, the atp-binding cassette (abc) superfamily |
PTM databases
CarbonylDBi | O60706 |
GlyGeni | O60706, 6 sites, 1 O-linked glycan (1 site) |
iPTMneti | O60706 |
PhosphoSitePlusi | O60706 |
Genetic variation databases
BioMutai | ABCC9 |
Proteomic databases
jPOSTi | O60706 |
MassIVEi | O60706 |
PaxDbi | O60706 |
PeptideAtlasi | O60706 |
PRIDEi | O60706 |
ProteomicsDBi | 49533 [O60706-1] 49534 [O60706-2] |
Protocols and materials databases
ABCDi | O60706, 3 sequenced antibodies |
Antibodypediai | 12381, 223 antibodies |
Genome annotation databases
Ensembli | ENST00000261200; ENSP00000261200; ENSG00000069431 [O60706-2] ENST00000261201; ENSP00000261201; ENSG00000069431 [O60706-1] |
GeneIDi | 10060 |
KEGGi | hsa:10060 |
UCSCi | uc001rfh.4, human [O60706-1] |
Organism-specific databases
CTDi | 10060 |
DisGeNETi | 10060 |
GeneCardsi | ABCC9 |
GeneReviewsi | ABCC9 |
HGNCi | HGNC:60, ABCC9 |
HPAi | ENSG00000069431, Low tissue specificity |
MalaCardsi | ABCC9 |
MIMi | 239850, phenotype 601439, gene 608569, phenotype 614050, phenotype |
neXtProti | NX_O60706 |
OpenTargetsi | ENSG00000069431 |
Orphaneti | 965, Acromegaloid facial appearance syndrome 130, Brugada syndrome 334, Familial atrial fibrillation 154, Familial isolated dilated cardiomyopathy 966, Hypertrichosis-acromegaloid facial appearance syndrome 1517, Hypertrichotic osteochondrodysplasia, Cantu type |
PharmGKBi | PA396 |
VEuPathDBi | HostDB:ENSG00000069431.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0054, Eukaryota |
GeneTreei | ENSGT00940000156680 |
HOGENOMi | CLU_000604_27_6_1 |
InParanoidi | O60706 |
OMAi | CWCYLSS |
OrthoDBi | 801938at2759 |
PhylomeDBi | O60706 |
TreeFami | TF105201 |
Enzyme and pathway databases
PathwayCommonsi | O60706 |
Reactomei | R-HSA-1296025, ATP sensitive Potassium channels R-HSA-382556, ABC-family proteins mediated transport R-HSA-5578775, Ion homeostasis R-HSA-5678420, Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome |
Miscellaneous databases
BioGRID-ORCSi | 10060, 5 hits in 873 CRISPR screens |
ChiTaRSi | ABCC9, human |
GeneWikii | ABCC9 |
GenomeRNAii | 10060 |
Pharosi | O60706, Tclin |
PROi | PR:O60706 |
RNActi | O60706, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000069431, Expressed in heart and 155 other tissues |
ExpressionAtlasi | O60706, baseline and differential |
Genevisiblei | O60706, HS |
Family and domain databases
Gene3Di | 1.20.1560.10, 2 hits |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR011527, ABC1_TM_dom IPR036640, ABC1_TM_sf IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR001475, ABCC9 IPR027417, P-loop_NTPase IPR000388, Sulphorea_rcpt |
PANTHERi | PTHR24223:SF173, PTHR24223:SF173, 1 hit |
Pfami | View protein in Pfam PF00664, ABC_membrane, 2 hits PF00005, ABC_tran, 2 hits |
PRINTSi | PR01094, SULFNYLUR2 PR01092, SULFNYLUREAR |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF52540, SSF52540, 2 hits SSF90123, SSF90123, 2 hits |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 2 hits PS00211, ABC_TRANSPORTER_1, 2 hits PS50893, ABC_TRANSPORTER_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCC9_HUMAN | |
Accessioni | O60706Primary (citable) accession number: O60706 Secondary accession number(s): O60707 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 26, 2001 |
Last sequence update: | November 25, 2008 | |
Last modified: | February 10, 2021 | |
This is version 192 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries