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UniProtKB - O60706 (ABCC9_HUMAN)

Protein

ATP-binding cassette sub-family C member 9

Gene

ABCC9

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

Functioni

Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.1 Publication

Miscellaneous

May contribute to the regulation of sleep duration. An intronic variant of this gene may account for about 5% of the variation of sleep duration between individuals (PubMed:22105623). Sleep duration is influenced both by environmental and genetic factors, with an estimated heritability of about 40%. Numerous genes are expected to contribute to the regulation of sleep duration.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi705 – 712ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1346 – 1353ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
  • ATPase-coupled anion transmembrane transporter activity Source: Reactome
  • 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
  • transporter activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • defense response to virus Source: MGI
  • potassium ion import Source: BHF-UCL
  • potassium ion transport Source: ProtInc
  • response to drug Source: GO_Central
  • transmembrane transport Source: GO_Central
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionReceptor
Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-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 dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia

Protein family/group databases

TCDBi3.A.1.208.23 the atp-binding cassette (abc) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family C member 9
Alternative name(s):
Sulfonylurea receptor 2
Gene namesi
Name:ABCC9
Synonyms:SUR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000069431.10
HGNCiHGNC:60 ABCC9
MIMi601439 gene
neXtProtiNX_O60706

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 30ExtracellularSequence analysisAdd BLAST30
Transmembranei31 – 51Helical; Name=1PROSITE-ProRule annotationAdd BLAST21
Topological domaini52 – 72CytoplasmicSequence analysisAdd BLAST21
Transmembranei73 – 93Helical; Name=2PROSITE-ProRule annotationAdd BLAST21
Topological domaini94 – 101ExtracellularSequence analysis8
Transmembranei102 – 122Helical; Name=3PROSITE-ProRule annotationAdd BLAST21
Topological domaini123 – 132CytoplasmicSequence analysis10
Transmembranei133 – 153Helical; Name=4PROSITE-ProRule annotationAdd BLAST21
Topological domaini154 – 167ExtracellularSequence analysisAdd BLAST14
Transmembranei168 – 188Helical; Name=5PROSITE-ProRule annotationAdd BLAST21
Topological domaini189 – 301CytoplasmicSequence analysisAdd BLAST113
Transmembranei302 – 322Helical; Name=6PROSITE-ProRule annotationAdd BLAST21
Topological domaini323 – 350ExtracellularSequence analysisAdd BLAST28
Transmembranei351 – 371Helical; Name=7PROSITE-ProRule annotationAdd BLAST21
Topological domaini372 – 423CytoplasmicSequence analysisAdd BLAST52
Transmembranei424 – 444Helical; Name=8PROSITE-ProRule annotationAdd BLAST21
Topological domaini445 – 455ExtracellularSequence analysisAdd BLAST11
Transmembranei456 – 476Helical; Name=9PROSITE-ProRule annotationAdd BLAST21
Topological domaini477 – 531CytoplasmicSequence analysisAdd BLAST55
Transmembranei532 – 552Helical; Name=10PROSITE-ProRule annotationAdd BLAST21
Topological domaini553 – 571ExtracellularSequence analysisAdd BLAST19
Transmembranei572 – 592Helical; Name=11PROSITE-ProRule annotationAdd BLAST21
Topological domaini593 – 990CytoplasmicSequence analysisAdd BLAST398
Transmembranei991 – 1011Helical; Name=12PROSITE-ProRule annotationAdd BLAST21
Topological domaini1012 – 1034ExtracellularSequence analysisAdd BLAST23
Transmembranei1035 – 1055Helical; Name=13PROSITE-ProRule annotationAdd BLAST21
Topological domaini1056 – 1127CytoplasmicSequence analysisAdd BLAST72
Transmembranei1128 – 1148Helical; Name=14PROSITE-ProRule annotationAdd BLAST21
Topological domaini1149 – 1245ExtracellularSequence analysisAdd BLAST97
Transmembranei1246 – 1266Helical; Name=15PROSITE-ProRule annotationAdd BLAST21
Topological domaini1267 – 1549CytoplasmicSequence analysisAdd BLAST283

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1O (CMD1O)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:608569
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0184831513A → T in CMD1O. 1 PublicationCorresponds to variant dbSNP:rs72559751Ensembl.1
Atrial fibrillation, familial, 12 (ATFB12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
See also OMIM:614050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0662101547T → 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
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability.
See also OMIM:239850
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06848560H → Y in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907230EnsemblClinVar.1
Natural variantiVAR_068486207D → E in HTOCD. 1 Publication1
Natural variantiVAR_068487380G → C in HTOCD. 1 Publication1
Natural variantiVAR_068488432P → L in HTOCD; mutant channels show reduced ATP sensitivity; rat ABCC9 construct containing this mutation shows gain of function. 2 Publications1
Natural variantiVAR_068489478A → V in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant dbSNP:rs387907211EnsemblClinVar.1
Natural variantiVAR_0684901020S → P in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907229EnsemblClinVar.1
Natural variantiVAR_0684911039F → S in HTOCD. 1 Publication1
Natural variantiVAR_0684921043C → Y in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant dbSNP:rs387907210EnsemblClinVar.1
Natural variantiVAR_0684931054S → Y in HTOCD. 1 Publication1
Natural variantiVAR_0684941116R → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907228EnsemblClinVar.1
Natural variantiVAR_0684951116R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 PublicationCorresponds to variant dbSNP:rs387907227EnsemblClinVar.1
Natural variantiVAR_0684961154R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 PublicationsCorresponds to variant dbSNP:rs387907209EnsemblClinVar.1
Natural variantiVAR_0684971154R → W in HTOCD. 2 PublicationsCorresponds to variant dbSNP:rs387907208EnsemblClinVar.1

Keywords - Diseasei

Atrial fibrillation, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi10060
GeneReviewsiABCC9
MalaCardsiABCC9
MIMi239850 phenotype
608569 phenotype
614050 phenotype
OpenTargetsiENSG00000069431
Orphaneti965 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
PharmGKBiPA396

Chemistry databases

ChEMBLiCHEMBL1971
DrugBankiDB00171 Adenosine triphosphate
DB01016 Glyburide
GuidetoPHARMACOLOGYi2746

Polymorphism and mutation databases

BioMutaiABCC9

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000934021 – 1549ATP-binding cassette sub-family C member 9Add BLAST1549

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi9N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi326N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi330N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi333N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi334N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO60706
PeptideAtlasiO60706
PRIDEiO60706
ProteomicsDBi49533
49534 [O60706-2]

PTM databases

CarbonylDBiO60706
iPTMnetiO60706
PhosphoSitePlusiO60706

Expressioni

Gene expression databases

BgeeiENSG00000069431 Expressed in 135 organ(s), highest expression level in heart
CleanExiHS_ABCC9
ExpressionAtlasiO60706 baseline and differential
GenevisibleiO60706 HS

Organism-specific databases

HPAiHPA007279

Interactioni

Subunit structurei

Interacts with KCNJ11.1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi115371, 3 interactors
ComplexPortaliCPX-197 Inward rectifying potassium channel complex, Kir6.2-SUR2A [O60706-1]
CPX-199 Inward rectifying potassium channel complex, Kir6.2-SUR2B [O60706-2]
IntActiO60706, 2 interactors
STRINGi9606.ENSP00000261200

Chemistry databases

BindingDBiO60706

Structurei

3D structure databases

ProteinModelPortaliO60706
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini297 – 597ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST301
Domaini672 – 912ABC transporter 1PROSITE-ProRule annotationAdd BLAST241
Domaini994 – 1274ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST281
Domaini1312 – 1546ABC transporter 2PROSITE-ProRule annotationAdd BLAST235

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0054 Eukaryota
COG1132 LUCA
GeneTreeiENSGT00880000137856
HOVERGENiHBG101342
InParanoidiO60706
KOiK05033
OMAiYAAQKSW
OrthoDBiEOG091G00IN
PhylomeDBiO60706
TreeFamiTF105201

Family and domain databases

Gene3Di1.20.1560.10, 2 hits
InterProiView 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
PANTHERiPTHR24223:SF173 PTHR24223:SF173, 1 hit
PfamiView protein in Pfam
PF00664 ABC_membrane, 2 hits
PF00005 ABC_tran, 2 hits
PRINTSiPR01094 SULFNYLUR2
PR01092 SULFNYLUREAR
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 2 hits
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform SUR2A (identifier: O60706-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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
Length:1,549
Mass (Da):174,223
Last modified:November 25, 2008 - v2
Checksum:i55508C9343AB1218
GO
Isoform SUR2B (identifier: O60706-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1508-1549: SSIMDAGLVL...LFSTLVMTNK → HTILTADLVI...VFASFVRADM

Show »
Length:1,549
Mass (Da):174,425
Checksum:iA5BB684EEE7156E2
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YFV4H0YFV4_HUMAN
ATP-binding cassette sub-family C m...
ABCC9
1,176Annotation score:
Q8N4N7Q8N4N7_HUMAN
ABCC9 protein
ABCC9
149Annotation score:
G3V1N6G3V1N6_HUMAN
ATP-binding cassette sub-family C m...
ABCC9 hCG_24790
170Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti586F → S in AAC16057 (PubMed:9457174).Curated1
Sequence conflicti586F → S in AAC16058 (PubMed:9457174).Curated1
Sequence conflicti589S → F in AAC16057 (PubMed:9457174).Curated1
Sequence conflicti589S → F in AAC16058 (PubMed:9457174).Curated1
Sequence conflicti1503I → M in AAC16057 (PubMed:9457174).Curated1
Sequence conflicti1503I → M in AAC16058 (PubMed:9457174).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06848560H → Y in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907230EnsemblClinVar.1
Natural variantiVAR_068486207D → E in HTOCD. 1 Publication1
Natural variantiVAR_068487380G → C in HTOCD. 1 Publication1
Natural variantiVAR_068488432P → L in HTOCD; mutant channels show reduced ATP sensitivity; rat ABCC9 construct containing this mutation shows gain of function. 2 Publications1
Natural variantiVAR_068489478A → V in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant dbSNP:rs387907211EnsemblClinVar.1
Natural variantiVAR_0684901020S → P in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907229EnsemblClinVar.1
Natural variantiVAR_0684911039F → S in HTOCD. 1 Publication1
Natural variantiVAR_0684921043C → Y in HTOCD; rat ABCC9 construct containing this mutation shows gain of function. 2 PublicationsCorresponds to variant dbSNP:rs387907210EnsemblClinVar.1
Natural variantiVAR_0684931054S → Y in HTOCD. 1 Publication1
Natural variantiVAR_0481431108P → S. Corresponds to variant dbSNP:rs35404804Ensembl.1
Natural variantiVAR_0684941116R → C in HTOCD. 1 PublicationCorresponds to variant dbSNP:rs387907228EnsemblClinVar.1
Natural variantiVAR_0684951116R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 PublicationCorresponds to variant dbSNP:rs387907227EnsemblClinVar.1
Natural variantiVAR_0684961154R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 PublicationsCorresponds to variant dbSNP:rs387907209EnsemblClinVar.1
Natural variantiVAR_0684971154R → W in HTOCD. 2 PublicationsCorresponds to variant dbSNP:rs387907208EnsemblClinVar.1
Natural variantiVAR_0184831513A → T in CMD1O. 1 PublicationCorresponds to variant dbSNP:rs72559751Ensembl.1
Natural variantiVAR_0662101547T → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0000581508 – 1549SSIMD…VMTNK → HTILTADLVIVMKRGNILEY DTPESLLAQENGVFASFVRA DM in isoform SUR2B. CuratedAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF061323
, AF061289, AF061290, AF061291, AF061292, AF061293, AF061294, AF061295, AF061296, AF061297, AF061298, AF061299, AF061300, AF061301, AF061302, AF061303, AF061304, AF061305, AF061306, AF061307, AF061308, AF061309, AF061310, AF061311, AF061312, AF061313, AF061314, AF061315, AF061316, AF061317, AF061318, AF061319, AF061320, AF061321, AF061322 Genomic DNA Translation: AAC16057.1
AF061324
, AF061289, AF061290, AF061291, AF061292, AF061293, AF061294, AF061295, AF061296, AF061297, AF061298, AF061299, AF061300, AF061301, AF061302, AF061303, AF061304, AF061305, AF061306, AF061307, AF061308, AF061309, AF061310, AF061311, AF061312, AF061313, AF061314, AF061315, AF061316, AF061317, AF061318, AF061319, AF061320, AF061321, AF061322 Genomic DNA Translation: AAC16058.1
AC008250 Genomic DNA No translation available.
AC084806 Genomic DNA No translation available.
CCDSiCCDS8693.1 [O60706-2]
CCDS8694.1 [O60706-1]
RefSeqiNP_005682.2, NM_005691.3 [O60706-1]
NP_064693.2, NM_020297.3 [O60706-2]
XP_005253341.1, XM_005253284.3 [O60706-2]
XP_005253343.1, XM_005253286.3 [O60706-2]
XP_005253344.1, XM_005253287.4 [O60706-1]
XP_005253345.1, XM_005253288.3 [O60706-2]
XP_011518847.1, XM_011520545.2 [O60706-2]
UniGeneiHs.732701

Genome annotation databases

EnsembliENST00000261200; ENSP00000261200; ENSG00000069431 [O60706-2]
ENST00000261201; ENSP00000261201; ENSG00000069431 [O60706-1]
GeneIDi10060
KEGGihsa:10060
UCSCiuc001rfh.4 human [O60706-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF061323
, AF061289, AF061290, AF061291, AF061292, AF061293, AF061294, AF061295, AF061296, AF061297, AF061298, AF061299, AF061300, AF061301, AF061302, AF061303, AF061304, AF061305, AF061306, AF061307, AF061308, AF061309, AF061310, AF061311, AF061312, AF061313, AF061314, AF061315, AF061316, AF061317, AF061318, AF061319, AF061320, AF061321, AF061322 Genomic DNA Translation: AAC16057.1
AF061324
, AF061289, AF061290, AF061291, AF061292, AF061293, AF061294, AF061295, AF061296, AF061297, AF061298, AF061299, AF061300, AF061301, AF061302, AF061303, AF061304, AF061305, AF061306, AF061307, AF061308, AF061309, AF061310, AF061311, AF061312, AF061313, AF061314, AF061315, AF061316, AF061317, AF061318, AF061319, AF061320, AF061321, AF061322 Genomic DNA Translation: AAC16058.1
AC008250 Genomic DNA No translation available.
AC084806 Genomic DNA No translation available.
CCDSiCCDS8693.1 [O60706-2]
CCDS8694.1 [O60706-1]
RefSeqiNP_005682.2, NM_005691.3 [O60706-1]
NP_064693.2, NM_020297.3 [O60706-2]
XP_005253341.1, XM_005253284.3 [O60706-2]
XP_005253343.1, XM_005253286.3 [O60706-2]
XP_005253344.1, XM_005253287.4 [O60706-1]
XP_005253345.1, XM_005253288.3 [O60706-2]
XP_011518847.1, XM_011520545.2 [O60706-2]
UniGeneiHs.732701

3D structure databases

ProteinModelPortaliO60706
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115371, 3 interactors
ComplexPortaliCPX-197 Inward rectifying potassium channel complex, Kir6.2-SUR2A [O60706-1]
CPX-199 Inward rectifying potassium channel complex, Kir6.2-SUR2B [O60706-2]
IntActiO60706, 2 interactors
STRINGi9606.ENSP00000261200

Chemistry databases

BindingDBiO60706
ChEMBLiCHEMBL1971
DrugBankiDB00171 Adenosine triphosphate
DB01016 Glyburide
GuidetoPHARMACOLOGYi2746

Protein family/group databases

TCDBi3.A.1.208.23 the atp-binding cassette (abc) superfamily

PTM databases

CarbonylDBiO60706
iPTMnetiO60706
PhosphoSitePlusiO60706

Polymorphism and mutation databases

BioMutaiABCC9

Proteomic databases

PaxDbiO60706
PeptideAtlasiO60706
PRIDEiO60706
ProteomicsDBi49533
49534 [O60706-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261200; ENSP00000261200; ENSG00000069431 [O60706-2]
ENST00000261201; ENSP00000261201; ENSG00000069431 [O60706-1]
GeneIDi10060
KEGGihsa:10060
UCSCiuc001rfh.4 human [O60706-1]

Organism-specific databases

CTDi10060
DisGeNETi10060
EuPathDBiHostDB:ENSG00000069431.10
GeneCardsiABCC9
GeneReviewsiABCC9
HGNCiHGNC:60 ABCC9
HPAiHPA007279
MalaCardsiABCC9
MIMi239850 phenotype
601439 gene
608569 phenotype
614050 phenotype
neXtProtiNX_O60706
OpenTargetsiENSG00000069431
Orphaneti965 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
PharmGKBiPA396
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0054 Eukaryota
COG1132 LUCA
GeneTreeiENSGT00880000137856
HOVERGENiHBG101342
InParanoidiO60706
KOiK05033
OMAiYAAQKSW
OrthoDBiEOG091G00IN
PhylomeDBiO60706
TreeFamiTF105201

Enzyme and pathway databases

ReactomeiR-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 dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia

Miscellaneous databases

ChiTaRSiABCC9 human
GeneWikiiABCC9
GenomeRNAii10060
PROiPR:O60706
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000069431 Expressed in 135 organ(s), highest expression level in heart
CleanExiHS_ABCC9
ExpressionAtlasiO60706 baseline and differential
GenevisibleiO60706 HS

Family and domain databases

Gene3Di1.20.1560.10, 2 hits
InterProiView 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
PANTHERiPTHR24223:SF173 PTHR24223:SF173, 1 hit
PfamiView protein in Pfam
PF00664 ABC_membrane, 2 hits
PF00005 ABC_tran, 2 hits
PRINTSiPR01094 SULFNYLUR2
PR01092 SULFNYLUREAR
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 2 hits
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiABCC9_HUMAN
AccessioniPrimary (citable) accession number: O60706
Secondary accession number(s): O60707
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 174 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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