Reviewed,
UniProtKB/Swiss-Prot O60706 (ABCC9_HUMAN)
Last modified
November 24, 2009.
Version 87.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: ATP-binding cassette transporter sub-family C member 9 Alternative name(s): Sulfonylurea receptor 2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1549 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence 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. |
Ontologies
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1549 | 1549 | ATP-binding cassette transporter sub-family C member 9 | PRO_0000093402 | |||||
Regions | |||||||||
| Topological domain | 1 – 30 | 30 | Extracellular Potential | ||||||
| Transmembrane | 31 – 51 | 21 | 1 Potential | ||||||
| Topological domain | 52 – 72 | 21 | Cytoplasmic Potential | ||||||
| Transmembrane | 73 – 93 | 21 | 2 Potential | ||||||
| Topological domain | 94 – 101 | 8 | Extracellular Potential | ||||||
| Transmembrane | 102 – 122 | 21 | 3 Potential | ||||||
| Topological domain | 123 – 132 | 10 | Cytoplasmic Potential | ||||||
| Transmembrane | 133 – 153 | 21 | 4 Potential | ||||||
| Topological domain | 154 – 167 | 14 | Extracellular Potential | ||||||
| Transmembrane | 168 – 188 | 21 | 5 Potential | ||||||
| Topological domain | 189 – 301 | 113 | Cytoplasmic Potential | ||||||
| Transmembrane | 302 – 322 | 21 | 6 Potential | ||||||
| Topological domain | 323 – 350 | 28 | Extracellular Potential | ||||||
| Transmembrane | 351 – 371 | 21 | 7 Potential | ||||||
| Topological domain | 372 – 423 | 52 | Cytoplasmic Potential | ||||||
| Transmembrane | 424 – 444 | 21 | 8 Potential | ||||||
| Topological domain | 445 – 455 | 11 | Extracellular Potential | ||||||
| Transmembrane | 456 – 476 | 21 | 9 Potential | ||||||
| Topological domain | 477 – 531 | 55 | Cytoplasmic Potential | ||||||
| Transmembrane | 532 – 552 | 21 | 10 Potential | ||||||
| Topological domain | 553 – 571 | 19 | Extracellular Potential | ||||||
| Transmembrane | 572 – 592 | 21 | 11 Potential | ||||||
| Topological domain | 593 – 990 | 398 | Cytoplasmic Potential | ||||||
| Transmembrane | 991 – 1011 | 21 | 12 Potential | ||||||
| Topological domain | 1012 – 1034 | 23 | Extracellular Potential | ||||||
| Transmembrane | 1035 – 1055 | 21 | 13 Potential | ||||||
| Topological domain | 1056 – 1127 | 72 | Cytoplasmic Potential | ||||||
| Transmembrane | 1128 – 1148 | 21 | 14 Potential | ||||||
| Topological domain | 1149 – 1245 | 97 | Extracellular Potential | ||||||
| Transmembrane | 1246 – 1266 | 21 | 15 Potential | ||||||
| Topological domain | 1267 – 1549 | 283 | Cytoplasmic Potential | ||||||
| Domain | 297 – 597 | 301 | ABC transmembrane type-1 1 | ||||||
| Domain | 672 – 912 | 241 | ABC transporter 1 | ||||||
| Domain | 994 – 1274 | 281 | ABC transmembrane type-1 2 | ||||||
| Domain | 1312 – 1546 | 235 | ABC transporter 2 | ||||||
| Nucleotide binding | 705 – 712 | 8 | ATP 1 Potential | ||||||
| Nucleotide binding | 1346 – 1353 | 8 | ATP 2 Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 9 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 326 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 330 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 333 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 334 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1508 – 1549 | 42 | SSIMD…VMTNK → HTILTADLVIVMKRGNILEY DTPESLLAQENGVFASFVRA DM in isoform SUR2B. | VSP_000058 | |||||
| Natural variant | 1108 | 1 | P → S: dbSNP rs35404804. | VAR_048143 | |||||
| Natural variant | 1513 | 1 | A → T in CMD1O. Ref.3 | VAR_018483 | |||||
Experimental info | |||||||||
| Sequence conflict | 586 | 1 | F → S in AAC16057. Ref.1 | ||||||
| Sequence conflict | 586 | 1 | F → S in AAC16058. Ref.1 | ||||||
| Sequence conflict | 589 | 1 | S → F in AAC16057. Ref.1 | ||||||
| Sequence conflict | 589 | 1 | S → F in AAC16058. Ref.1 | ||||||
| Sequence conflict | 1503 | 1 | I → M in AAC16057. Ref.1 | ||||||
| Sequence conflict | 1503 | 1 | I → M in AAC16058. Ref.1 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
AF061323 AF061322 Genomic DNA. Translation: AAC16057.1. AF061324 AF061322 Genomic DNA. Translation: AAC16058.1. AC008250 Genomic DNA. No translation available. AC084806 Genomic DNA. No translation available. | |
| IPI | IPI00024278. IPI00216251. |
| RefSeq | NP_005682.2. NP_064693.2. |
| UniGene | Hs.446050 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | O60706. |
PTM databases | |
| PhosphoSite | O60706. |
Genome annotation databases | |
| Ensembl | ENST00000261201; ENSP00000261201; ENSG00000069431; Homo sapiens. [Genome view] |
| GeneID | 10060. |
| KEGG | hsa:10060. |
| UCSC | uc001rfh.1. human. uc001rfi.1. human. |
Organism-specific databases | |
| CTD | 10060. |
| GeneCards | GC12M021844. |
| H-InvDB | HIX0010483. |
| HGNC | HGNC:60. ABCC9. |
| HPA | HPA007279. |
| MIM | 601439. gene. 608569. phenotype. |
| Orphanet | 154. Cardiomyopathy, familial dilated. |
| PharmGKB | PA396. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | O60706. |
| HOVERGEN | O60706. |
| OMA | VELYEHW |
| OrthoDB | EOG9642XK |
Gene expression databases | |
| ArrayExpress | O60706. |
| Bgee | O60706. |
| CleanEx | HS_ABCC9. |
| Genevestigator | O60706. |
| GermOnline | ENSG00000069431. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011527. 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] |
| Pfam | PF00664. ABC_membrane. 2 hits. PF00005. ABC_tran. 2 hits. [Graphical view] |
| PRINTS | PR01094. SULFNYLUR2. PR01092. SULFNYLUREAR. |
| SMART | SM00382. AAA. 2 hits. [Graphical view] |
| PROSITE | PS50929. ABC_TM1F. 2 hits. PS00211. ABC_TRANSPORTER_1. 2 hits. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00171. Adenosine triphosphate. DB01016. Glibenclamide. |
| SOURCE | Search... |
Entry information
| Entry name | ABCC9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60706 Secondary accession number(s): O60707 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
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 |

Clusters with


