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Reviewed, UniProtKB/Swiss-Prot O60706 (ABCC9_HUMAN)

Last modified November 24, 2009. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    ATP-binding cassette transporter sub-family C member 9
Alternative name(s):
    Sulfonylurea receptor 2
Gene names
Name: ABCC9
Synonyms: SUR2
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1549 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KIR6.2. KIR6.2 forms the channel pore while SUR2 is required for activation and regulation.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Involvement in disease

Defects in ABCC9 are the cause of cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]; also known as dilated cardiomyopathy with ventricular tachycardia. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Ref.3

Sequence similarities

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

Contains 2 ABC transmembrane type-1 domains.

Contains 2 ABC transporter domains.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform SUR2A (identifier: O60706-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform SUR2B (identifier: O60706-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15491549ATP-binding cassette transporter sub-family C member 9
PRO_0000093402

Regions

Topological domain1 – 3030Extracellular Potential
Transmembrane31 – 51211 Potential
Topological domain52 – 7221Cytoplasmic Potential
Transmembrane73 – 93212 Potential
Topological domain94 – 1018Extracellular Potential
Transmembrane102 – 122213 Potential
Topological domain123 – 13210Cytoplasmic Potential
Transmembrane133 – 153214 Potential
Topological domain154 – 16714Extracellular Potential
Transmembrane168 – 188215 Potential
Topological domain189 – 301113Cytoplasmic Potential
Transmembrane302 – 322216 Potential
Topological domain323 – 35028Extracellular Potential
Transmembrane351 – 371217 Potential
Topological domain372 – 42352Cytoplasmic Potential
Transmembrane424 – 444218 Potential
Topological domain445 – 45511Extracellular Potential
Transmembrane456 – 476219 Potential
Topological domain477 – 53155Cytoplasmic Potential
Transmembrane532 – 5522110 Potential
Topological domain553 – 57119Extracellular Potential
Transmembrane572 – 5922111 Potential
Topological domain593 – 990398Cytoplasmic Potential
Transmembrane991 – 10112112 Potential
Topological domain1012 – 103423Extracellular Potential
Transmembrane1035 – 10552113 Potential
Topological domain1056 – 112772Cytoplasmic Potential
Transmembrane1128 – 11482114 Potential
Topological domain1149 – 124597Extracellular Potential
Transmembrane1246 – 12662115 Potential
Topological domain1267 – 1549283Cytoplasmic Potential
Domain297 – 597301ABC transmembrane type-1 1
Domain672 – 912241ABC transporter 1
Domain994 – 1274281ABC transmembrane type-1 2
Domain1312 – 1546235ABC transporter 2
Nucleotide binding705 – 7128ATP 1 Potential
Nucleotide binding1346 – 13538ATP 2 Potential

Amino acid modifications

Glycosylation91N-linked (GlcNAc...) Potential
Glycosylation3261N-linked (GlcNAc...) Potential
Glycosylation3301N-linked (GlcNAc...) Potential
Glycosylation3331N-linked (GlcNAc...) Potential
Glycosylation3341N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1508 – 154942SSIMD…VMTNK → HTILTADLVIVMKRGNILEY DTPESLLAQENGVFASFVRA DM in isoform SUR2B.
VSP_000058
Natural variant11081P → S: dbSNP rs35404804.
VAR_048143
Natural variant15131A → T in CMD1O. Ref.3
VAR_018483

Experimental info

Sequence conflict5861F → S in AAC16057. Ref.1
Sequence conflict5861F → S in AAC16058. Ref.1
Sequence conflict5891S → F in AAC16057. Ref.1
Sequence conflict5891S → F in AAC16058. Ref.1
Sequence conflict15031I → M in AAC16057. Ref.1
Sequence conflict15031I → M in AAC16058. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform SUR2A [UniParc].

Last modified November 25, 2008. Version 2.
Checksum: 55508C9343AB1218

FASTA1,549174,223
        10         20         30         40         50         60 
MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG SQSSKVQIHH 

        70         80         90        100        110        120 
NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR HLHLFMPAVM GFVATTTSIV 

       130        140        150        160        170        180 
YYHNIETSNF PKLLLALFLY WVMAFITKTI KLVKYCQSGL DISNLRFCIT GMMVILNGLL 

       190        200        210        220        230        240 
MAVEINVIRV RRYVFFMNPQ KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK 

       250        260        270        280        290        300 
KPIDLKAIGK LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS 

       310        320        330        340        350        360 
STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN AYVLAVLLFL 

       370        380        390        400        410        420 
ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST SNLSMGEMTL GQINNLVAIE 

       430        440        450        460        470        480 
TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN LLGSSALVGA AVIVLLAPIQ YFIATKLAEA 

       490        500        510        520        530        540 
QKSTLDYSTE RLKKTNEILK GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI 

       550        560        570        580        590        600 
FMNAAIPIAA VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII 

       610        620        630        640        650        660 
SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY HLDSYEQSTR 

       670        680        690        700        710        720 
RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL TMIVGQVGCG KSSLLLAILG 

       730        740        750        760        770        780 
EMQTLEGKVH WSNVNESEPS FEATRSRNRY SVAYAAQKPW LLNATVEENI TFGSPFNKQR 

       790        800        810        820        830        840 
YKAVTDACSL QPDIDLLPFG DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS 

       850        860        870        880        890        900 
ALDIHLSDHL MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ 

       910        920        930        940        950        960 
TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM EDEDEEEEEE 

       970        980        990       1000       1010       1020 
EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS KLLKHSVIVA IDYWLATWTS 

      1030       1040       1050       1060       1070       1080 
EYSINNTGKA DQTYYVAGFS ILCGAGIFLC LVTSLTVEWM GLTAAKNLHH NLLNKIILGP 

      1090       1100       1110       1120       1130       1140 
IRFFDTTPLG LILNRFSADT NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL 

      1150       1160       1170       1180       1190       1200 
PLGVAFYFIQ KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE 

      1210       1220       1230       1240       1250       1260 
LTDTNNIAYL FLSAANRWLE VRTDYLGACI VLTASIASIS GSSNSGLVGL GLLYALTITN 

      1270       1280       1290       1300       1310       1320 
YLNWVVRNLA DLEVQMGAVK KVNSFLTMES ENYEGTMDPS QVPEHWPQEG EIKIHDLCVR 

      1330       1340       1350       1360       1370       1380 
YENNLKPVLK HVKAYIKPGQ KVGICGRTGS GKSSLSLAFF RMVDIFDGKI VIDGIDISKL 

      1390       1400       1410       1420       1430       1440 
PLHTLRSRLS IILQDPILFS GSIRFNLDPE CKCTDDRLWE ALEIAQLKNM VKSLPGGLDA 

      1450       1460       1470       1480       1490       1500 
VVTEGGENFS VGQRQLFCLA RAFVRKSSIL IMDEATASID MATENILQKV VMTAFADRTV 

      1510       1520       1530       1540 
VTIAHRVSSI MDAGLVLVFS EGILVECDTV PNLLAHKNGL FSTLVMTNK 

« Hide

Isoform SUR2B.

Checksum: A5BB684EEE7156E2
Show »

FASTA1,549174,425

References

« Hide 'large scale' references
[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: 9457174] [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. expand/collapse author list , 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: 16541075] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating."
Bienengraeber M., Olson T.M., Selivanov V.A., Kathmann E.C., O'Cochlain F., Gao F., Karger A.B., Ballew J.D., Hodgson D.M., Zingman L.V., Pang Y.-P., Alekseev A.E., Terzic A.
Nat. Genet. 36:382-387(2004) [PubMed: 15034580] [Abstract]
Cited for: VARIANT CMD1O THR-1513.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

AF061323 expand/collapse EMBL AC list , 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 expand/collapse EMBL AC list , 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.
IPIIPI00024278.
IPI00216251.
RefSeqNP_005682.2.
NP_064693.2.
UniGeneHs.446050

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGO60706.

PTM databases

PhosphoSiteO60706.

Genome annotation databases

EnsemblENST00000261201; ENSP00000261201; ENSG00000069431; Homo sapiens. [Genome view]
GeneID10060.
KEGGhsa:10060.
UCSCuc001rfh.1. human.
uc001rfi.1. human.

Organism-specific databases

CTD10060.
GeneCardsGC12M021844.
H-InvDBHIX0010483.
HGNCHGNC:60. ABCC9.
HPAHPA007279.
MIM601439. gene.
608569. phenotype.
Orphanet154. Cardiomyopathy, familial dilated.
PharmGKBPA396.
GenAtlasSearch...

Phylogenomic databases

HOGENOMO60706.
HOVERGENO60706.
OMAVELYEHW
OrthoDBEOG9642XK

Gene expression databases

ArrayExpressO60706.
BgeeO60706.
CleanExHS_ABCC9.
GenevestigatorO60706.
GermOnlineENSG00000069431. Homo sapiens.

Family and domain databases

InterProIPR011527. ABC_TM_1.
IPR001140. ABC_TM_transpt.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR017940. ABC_transporter_type1.
IPR003593. ATPase_AAA+_core.
IPR001475. Sulphonylurea_rcpt_2_N.
IPR000388. Sulphorea_rcpt_N.
[Graphical view]
PfamPF00664. ABC_membrane. 2 hits.
PF00005. ABC_tran. 2 hits.
[Graphical view]
PRINTSPR01094. SULFNYLUR2.
PR01092. SULFNYLUREAR.
SMARTSM00382. AAA. 2 hits.
[Graphical view]
PROSITEPS50929. ABC_TM1F. 2 hits.
PS00211. ABC_TRANSPORTER_1. 2 hits.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other Resources

DrugBankDB00171. Adenosine triphosphate.
DB01016. Glibenclamide.
SOURCESearch...

Entry information

Entry nameABCC9_HUMAN
AccessionPrimary (citable) accession number: O60706
Secondary accession number(s): O60707
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 25, 2008
Last modified: November 24, 2009
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents