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O60706

- ABCC9_HUMAN

UniProt

O60706 - ABCC9_HUMAN

Protein

ATP-binding cassette sub-family C member 9

Gene

ABCC9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    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

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi705 – 7128ATP 1PROSITE-ProRule annotation
    Nucleotide bindingi1346 – 13538ATP 2PROSITE-ProRule annotation

    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

    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

    Membrane PROSITE-ProRule annotation; Multi-pass membrane protein PROSITE-ProRule annotation

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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...)Sequence Analysis
    Glycosylationi326 – 3261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi330 – 3301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi333 – 3331N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi334 – 3341N-linked (GlcNAc...)Sequence Analysis

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3030ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini52 – 7221CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini94 – 1018ExtracellularSequence Analysis
    Topological domaini123 – 13210CytoplasmicSequence Analysis
    Topological domaini154 – 16714ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini189 – 301113CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini323 – 35028ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini372 – 42352CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini445 – 45511ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini477 – 53155CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini553 – 57119ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini593 – 990398CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1012 – 103423ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1056 – 112772CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1149 – 124597ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1267 – 1549283CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei31 – 5121Helical; Name=1PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei73 – 9321Helical; Name=2PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei102 – 12221Helical; Name=3PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei133 – 15321Helical; Name=4PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei168 – 18821Helical; Name=5PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei302 – 32221Helical; Name=6PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei351 – 37121Helical; Name=7PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei424 – 44421Helical; Name=8PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei456 – 47621Helical; Name=9PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei532 – 55221Helical; Name=10PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei572 – 59221Helical; Name=11PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei991 – 101121Helical; Name=12PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1035 – 105521Helical; Name=13PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1128 – 114821Helical; Name=14PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1246 – 126621Helical; Name=15PROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

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

    Sequence similaritiesi

    Contains 2 ABC transmembrane type-1 domains.PROSITE-ProRule annotation
    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1132.
    HOVERGENiHBG101342.
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti586 – 5861F → S in AAC16057. (PubMed:9457174)Curated
    Sequence conflicti586 – 5861F → S in AAC16058. (PubMed:9457174)Curated
    Sequence conflicti589 – 5891S → F in AAC16057. (PubMed:9457174)Curated
    Sequence conflicti589 – 5891S → F in AAC16058. (PubMed:9457174)Curated
    Sequence conflicti1503 – 15031I → M in AAC16057. (PubMed:9457174)Curated
    Sequence conflicti1503 – 15031I → M in AAC16058. (PubMed:9457174)Curated

    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. CuratedVSP_000058Add
    BLAST

    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. Glyburide.

    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

    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: October 1, 2014
    This is version 135 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 (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

    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