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O60706

- ABCC9_HUMAN

UniProt

O60706 - ABCC9_HUMAN

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Protein

ATP-binding cassette sub-family C member 9

Gene
ABCC9, SUR2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi705 – 7128ATP 1 Reviewed prediction
Nucleotide bindingi1346 – 13538ATP 2 Reviewed prediction

GO - Molecular functioni

  1. ATPase activity, coupled to transmembrane movement of substances Source: InterPro
  2. ATP binding Source: UniProtKB-KW
  3. ion channel binding Source: BHF-UCL
  4. potassium channel activity Source: Ensembl
  5. potassium channel regulator activity Source: BHF-UCL
  6. sulfonylurea receptor activity Source: BHF-UCL
  7. transporter activity Source: ProtInc

GO - Biological processi

  1. defense response to virus Source: MGI
  2. potassium ion import Source: BHF-UCL
  3. potassium ion transport Source: ProtInc
  4. signal transduction Source: GOC
  5. synaptic transmission Source: Reactome
  6. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_15480. ABC-family proteins mediated transport.
REACT_75775. ATP sensitive Potassium channels.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:60. ABCC9.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3030Extracellular Reviewed predictionAdd
BLAST
Transmembranei31 – 5121Helical; Name=1; Reviewed predictionAdd
BLAST
Topological domaini52 – 7221Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei73 – 9321Helical; Name=2; Reviewed predictionAdd
BLAST
Topological domaini94 – 1018Extracellular Reviewed prediction
Transmembranei102 – 12221Helical; Name=3; Reviewed predictionAdd
BLAST
Topological domaini123 – 13210Cytoplasmic Reviewed prediction
Transmembranei133 – 15321Helical; Name=4; Reviewed predictionAdd
BLAST
Topological domaini154 – 16714Extracellular Reviewed predictionAdd
BLAST
Transmembranei168 – 18821Helical; Name=5; Reviewed predictionAdd
BLAST
Topological domaini189 – 301113Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei302 – 32221Helical; Name=6; Reviewed predictionAdd
BLAST
Topological domaini323 – 35028Extracellular Reviewed predictionAdd
BLAST
Transmembranei351 – 37121Helical; Name=7; Reviewed predictionAdd
BLAST
Topological domaini372 – 42352Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei424 – 44421Helical; Name=8; Reviewed predictionAdd
BLAST
Topological domaini445 – 45511Extracellular Reviewed predictionAdd
BLAST
Transmembranei456 – 47621Helical; Name=9; Reviewed predictionAdd
BLAST
Topological domaini477 – 53155Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei532 – 55221Helical; Name=10; Reviewed predictionAdd
BLAST
Topological domaini553 – 57119Extracellular Reviewed predictionAdd
BLAST
Transmembranei572 – 59221Helical; Name=11; Reviewed predictionAdd
BLAST
Topological domaini593 – 990398Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei991 – 101121Helical; Name=12; Reviewed predictionAdd
BLAST
Topological domaini1012 – 103423Extracellular Reviewed predictionAdd
BLAST
Transmembranei1035 – 105521Helical; Name=13; Reviewed predictionAdd
BLAST
Topological domaini1056 – 112772Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1128 – 114821Helical; Name=14; Reviewed predictionAdd
BLAST
Topological domaini1149 – 124597Extracellular Reviewed predictionAdd
BLAST
Transmembranei1246 – 126621Helical; Name=15; Reviewed predictionAdd
BLAST
Topological domaini1267 – 1549283Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. ATP-sensitive potassium channel complex Source: BHF-UCL
  2. plasma membrane Source: Reactome
  3. sarcolemma Source: Ensembl
  4. sarcomere Source: Ensembl
  5. voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1513 – 15131A → T in CMD1O. 1 Publication
VAR_018483
Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1547 – 15471T → 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 Publication
VAR_066210
Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601H → Y in HTOCD. 1 Publication
VAR_068485
Natural varianti207 – 2071D → E in HTOCD. 1 Publication
VAR_068486
Natural varianti380 – 3801G → C in HTOCD. 1 Publication
VAR_068487
Natural varianti432 – 4321P → L in HTOCD; mutant channels show reduced ATP sensitivity. 1 Publication
VAR_068488
Natural varianti478 – 4781A → V in HTOCD. 1 Publication
VAR_068489
Natural varianti1020 – 10201S → P in HTOCD. 1 Publication
VAR_068490
Natural varianti1039 – 10391F → S in HTOCD. 1 Publication
VAR_068491
Natural varianti1043 – 10431C → Y in HTOCD. 1 Publication
VAR_068492
Natural varianti1054 – 10541S → Y in HTOCD. 1 Publication
VAR_068493
Natural varianti1116 – 11161R → C in HTOCD. 1 Publication
VAR_068494
Natural varianti1116 – 11161R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 Publication
VAR_068495
Natural varianti1154 – 11541R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 Publications
VAR_068496
Natural varianti1154 – 11541R → W in HTOCD. 2 Publications
VAR_068497

Keywords - Diseasei

Atrial fibrillation, Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi239850. phenotype.
608569. phenotype.
614050. phenotype.
Orphaneti965. Acromegaloid facial appearance syndrome.
334. Familial atrial fibrillation.
154. Familial isolated dilated cardiomyopathy.
966. Hypertrichosis-acromegaloid facial appearence syndrome.
1517. Hypertrichotic osteochondrodysplasia, Cantu type.
PharmGKBiPA396.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15491549ATP-binding cassette sub-family C member 9PRO_0000093402Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi9 – 91N-linked (GlcNAc...) Reviewed prediction
Glycosylationi326 – 3261N-linked (GlcNAc...) Reviewed prediction
Glycosylationi330 – 3301N-linked (GlcNAc...) Reviewed prediction
Glycosylationi333 – 3331N-linked (GlcNAc...) Reviewed prediction
Glycosylationi334 – 3341N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO60706.
PRIDEiO60706.

PTM databases

PhosphoSiteiO60706.

Expressioni

Gene expression databases

ArrayExpressiO60706.
BgeeiO60706.
CleanExiHS_ABCC9.
GenevestigatoriO60706.

Organism-specific databases

HPAiHPA007279.

Interactioni

Subunit structurei

Interacts with KCNJ11.1 Publication

Protein-protein interaction databases

BioGridi115371. 2 interactions.
STRINGi9606.ENSP00000261200.

Structurei

3D structure databases

ProteinModelPortaliO60706.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini297 – 597301ABC transmembrane type-1 1Add
BLAST
Domaini672 – 912241ABC transporter 1Add
BLAST
Domaini994 – 1274281ABC transmembrane type-1 2Add
BLAST
Domaini1312 – 1546235ABC transporter 2Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1132.
HOVERGENiHBG101342.
KOiK05033.
OMAiMMVILNG.
OrthoDBiEOG7MWGW0.
PhylomeDBiO60706.
TreeFamiTF105201.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001140. ABC_transptr_TM_dom.
IPR027417. P-loop_NTPase.
IPR001475. Sulphonylurea_rcpt-2.
IPR000388. Sulphorea_rcpt.
[Graphical view]
PfamiPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
PRINTSiPR01094. SULFNYLUR2.
PR01092. SULFNYLUREAR.
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
PROSITEiPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG     50
SQSSKVQIHH NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR 100
HLHLFMPAVM GFVATTTSIV YYHNIETSNF PKLLLALFLY WVMAFITKTI 150
KLVKYCQSGL DISNLRFCIT GMMVILNGLL MAVEINVIRV RRYVFFMNPQ 200
KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK KPIDLKAIGK 250
LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS 300
STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN 350
AYVLAVLLFL ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST 400
SNLSMGEMTL GQINNLVAIE TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN 450
LLGSSALVGA AVIVLLAPIQ YFIATKLAEA QKSTLDYSTE RLKKTNEILK 500
GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI FMNAAIPIAA 550
VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII 600
SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY 650
HLDSYEQSTR RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL 700
TMIVGQVGCG KSSLLLAILG EMQTLEGKVH WSNVNESEPS FEATRSRNRY 750
SVAYAAQKPW LLNATVEENI TFGSPFNKQR YKAVTDACSL QPDIDLLPFG 800
DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS ALDIHLSDHL 850
MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ 900
TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM 950
EDEDEEEEEE EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS 1000
KLLKHSVIVA IDYWLATWTS EYSINNTGKA DQTYYVAGFS ILCGAGIFLC 1050
LVTSLTVEWM GLTAAKNLHH NLLNKIILGP IRFFDTTPLG LILNRFSADT 1100
NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL PLGVAFYFIQ 1150
KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE 1200
LTDTNNIAYL FLSAANRWLE VRTDYLGACI VLTASIASIS GSSNSGLVGL 1250
GLLYALTITN YLNWVVRNLA DLEVQMGAVK KVNSFLTMES ENYEGTMDPS 1300
QVPEHWPQEG EIKIHDLCVR YENNLKPVLK HVKAYIKPGQ KVGICGRTGS 1350
GKSSLSLAFF RMVDIFDGKI VIDGIDISKL PLHTLRSRLS IILQDPILFS 1400
GSIRFNLDPE CKCTDDRLWE ALEIAQLKNM VKSLPGGLDA VVTEGGENFS 1450
VGQRQLFCLA RAFVRKSSIL IMDEATASID MATENILQKV VMTAFADRTV 1500
VTIAHRVSSI MDAGLVLVFS EGILVECDTV PNLLAHKNGL FSTLVMTNK 1549
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601H → Y in HTOCD. 1 Publication
VAR_068485
Natural varianti207 – 2071D → E in HTOCD. 1 Publication
VAR_068486
Natural varianti380 – 3801G → C in HTOCD. 1 Publication
VAR_068487
Natural varianti432 – 4321P → L in HTOCD; mutant channels show reduced ATP sensitivity. 1 Publication
VAR_068488
Natural varianti478 – 4781A → V in HTOCD. 1 Publication
VAR_068489
Natural varianti1020 – 10201S → P in HTOCD. 1 Publication
VAR_068490
Natural varianti1039 – 10391F → S in HTOCD. 1 Publication
VAR_068491
Natural varianti1043 – 10431C → Y in HTOCD. 1 Publication
VAR_068492
Natural varianti1054 – 10541S → Y in HTOCD. 1 Publication
VAR_068493
Natural varianti1108 – 11081P → S.
Corresponds to variant rs35404804 [ dbSNP | Ensembl ].
VAR_048143
Natural varianti1116 – 11161R → C in HTOCD. 1 Publication
VAR_068494
Natural varianti1116 – 11161R → H in HTOCD; mutant channels show reduced ATP sensitivity. 1 Publication
VAR_068495
Natural varianti1154 – 11541R → Q in HTOCD; mutant channels show reduced ATP sensitivity. 2 Publications
VAR_068496
Natural varianti1154 – 11541R → W in HTOCD. 2 Publications
VAR_068497
Natural varianti1513 – 15131A → T in CMD1O. 1 Publication
VAR_018483
Natural varianti1547 – 15471T → 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 Publication
VAR_066210

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1508 – 154942SSIMD…VMTNK → HTILTADLVIVMKRGNILEY DTPESLLAQENGVFASFVRA DM in isoform SUR2B. VSP_000058Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti586 – 5861F → S in AAC16057. 1 Publication
Sequence conflicti586 – 5861F → S in AAC16058. 1 Publication
Sequence conflicti589 – 5891S → F in AAC16057. 1 Publication
Sequence conflicti589 – 5891S → F in AAC16058. 1 Publication
Sequence conflicti1503 – 15031I → M in AAC16057. 1 Publication
Sequence conflicti1503 – 15031I → M in AAC16058. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005253284.2. [O60706-2]
XP_005253343.1. XM_005253286.2. [O60706-2]
XP_005253344.1. XM_005253287.2. [O60706-1]
XP_005253345.1. XM_005253288.2. [O60706-2]
UniGeneiHs.732701.

Genome annotation databases

EnsembliENST00000261200; ENSP00000261200; ENSG00000069431. [O60706-2]
ENST00000261201; ENSP00000261201; ENSG00000069431. [O60706-1]
GeneIDi10060.
KEGGihsa:10060.
UCSCiuc001rfh.3. human. [O60706-2]
uc001rfi.1. human. [O60706-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS8693.1. [O60706-2 ]
CCDS8694.1. [O60706-1 ]
RefSeqi NP_005682.2. NM_005691.3. [O60706-1 ]
NP_064693.2. NM_020297.3. [O60706-2 ]
XP_005253341.1. XM_005253284.2. [O60706-2 ]
XP_005253343.1. XM_005253286.2. [O60706-2 ]
XP_005253344.1. XM_005253287.2. [O60706-1 ]
XP_005253345.1. XM_005253288.2. [O60706-2 ]
UniGenei Hs.732701.

3D structure databases

ProteinModelPortali O60706.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115371. 2 interactions.
STRINGi 9606.ENSP00000261200.

Chemistry

BindingDBi O60706.
ChEMBLi CHEMBL2095198.
DrugBanki DB00171. Adenosine triphosphate.
DB01016. Glibenclamide.

Protein family/group databases

TCDBi 3.A.1.208.23. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei O60706.

Proteomic databases

PaxDbi O60706.
PRIDEi O60706.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261200 ; ENSP00000261200 ; ENSG00000069431 . [O60706-2 ]
ENST00000261201 ; ENSP00000261201 ; ENSG00000069431 . [O60706-1 ]
GeneIDi 10060.
KEGGi hsa:10060.
UCSCi uc001rfh.3. human. [O60706-2 ]
uc001rfi.1. human. [O60706-1 ]

Organism-specific databases

CTDi 10060.
GeneCardsi GC12M021852.
GeneReviewsi ABCC9.
HGNCi HGNC:60. ABCC9.
HPAi HPA007279.
MIMi 239850. phenotype.
601439. gene.
608569. phenotype.
614050. phenotype.
neXtProti NX_O60706.
Orphaneti 965. Acromegaloid facial appearance syndrome.
334. Familial atrial fibrillation.
154. Familial isolated dilated cardiomyopathy.
966. Hypertrichosis-acromegaloid facial appearence syndrome.
1517. Hypertrichotic osteochondrodysplasia, Cantu type.
PharmGKBi PA396.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1132.
HOVERGENi HBG101342.
KOi K05033.
OMAi MMVILNG.
OrthoDBi EOG7MWGW0.
PhylomeDBi O60706.
TreeFami TF105201.

Enzyme and pathway databases

Reactomei REACT_15480. ABC-family proteins mediated transport.
REACT_75775. ATP sensitive Potassium channels.

Miscellaneous databases

GeneWikii ABCC9.
GenomeRNAii 10060.
NextBioi 38015.
PROi O60706.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60706.
Bgeei O60706.
CleanExi HS_ABCC9.
Genevestigatori O60706.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR011527. ABC1_TM_dom.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR001140. ABC_transptr_TM_dom.
IPR027417. P-loop_NTPase.
IPR001475. Sulphonylurea_rcpt-2.
IPR000388. Sulphorea_rcpt.
[Graphical view ]
Pfami PF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view ]
PRINTSi PR01094. SULFNYLUR2.
PR01092. SULFNYLUREAR.
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
SSF90123. SSF90123. 2 hits.
PROSITEi PS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Toward understanding the assembly and structure of KATP channels."
    Aguilar-Bryan L., Clement J.P. IV, Gonzalez G., Kunjilwar K., Babenko A., Bryan J.
    Physiol. Rev. 78:227-245(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS SUR2A AND SUR2B), REVIEW.
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells."
    Babenko A.P., Gonzalez G., Aguilar-Bryan L., Bryan J.
    Circ. Res. 83:1132-1143(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT.
  4. Cited for: POSSIBLE FUNCTION IN REGULATION OF SLEEP DURATION.
  5. Cited for: VARIANT CMD1O THR-1513.
  6. Cited for: VARIANT ATFB12 ILE-1547, CHARACTERIZATION OF VARIANT ATFB12 ILE-1547.
  7. Cited for: VARIANTS HTOCD VAL-478; TYR-1043; GLN-1154 AND TRP-1154.
  8. Cited for: VARIANTS HTOCD TYR-60; GLU-207; CYS-380; LEU-432; PRO-1020; SER-1039; TYR-1054; HIS-1116; CYS-1116; GLN-1154 AND TRP-1154, CHARACTERIZATION OF VARIANTS HTOCD LEU-432; HIS-1116 AND GLN-1154.

Entry informationi

Entry nameiABCC9_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 134 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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 (1 Publication). 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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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