Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| KCNQ1 | 3784 | potassium voltage-gated channel, KQT-like subfamily, member 1 | 11 | Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 23975432 | 2014 | Cell line : - Source : Jackson Laboratory (Bar Harbor, ME). Sample Type : - No. of Sample : C57BL/6J mice and C57BL/6J-ApcMin mice Stage : - | Immunohistochemistry in tissue microarrays,Organoid Culture,RNA processing for Illumina Bead Arrays,Illumina Bead Microarray,qRT-PCR. | Down-regulation | - | Low expression of KCNQ1 expression was significantly associated with poor overall survival. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Potassium channels, "Voltage-gated ion channels / Potassium channels" |
| Description | This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] |
| Chromosome | 11 |
| Location | 11p15.5 |
| Start | 2466221 |
| End | 2870340 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 404120 |
| OMIM ID | 607542 |
| HGNC ID | HGNC:6294 |
| Unigene ID | Hs.95162 |
| Ensembl ID | ENSG00000053918 |
| PharmGKB ID | PA223 |
mRNA Information
| mRNA ID | NM_000218.2 |
|---|---|
| Exon | join(1..494,82938..83028,125638..125764,126335..126413, 127023..127119,127856..127996,138445..138555, 140222..140317,142580..142702,143723..143864, 216971..217091,323854..323929,330970..331064, 331996..332042,332986..333047,402777..404120) | mRNA Sequence | Download Select all |
| Length | 3262 |
Protein Information
| Protein ID | NP_000209.2 |
|---|---|
| Protein Name | potassium voltage-gated channel, KQT-like subfamily, member 1 |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 676 |
| Uniprot ID | P52823 |
| Ensembl Protein ID | ENSP00000290271 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 3753 | KCNE1 | 1442 | NP_000210.2 | in vitro | 11104781 |
| 9992 | KCNE2 | 4813 | NP_751951.1 | in vitro;in vivo | 11101505 |
| 10142 | AKAP9 | 4921 | NP_671700.1 | in vitro;in vivo | 11799244 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Adrenergic signaling in cardiomyocytes | hsa04261 |
| Cholinergic synapse | hsa04725 |
| Gastric acid secretion | hsa04971 |
| Pancreatic secretion | hsa04972 |
| Protein digestion and absorption | hsa04974 |
| Vibrio cholerae infection | hsa05110 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam03520 | 451-639 | KCNQ_channel |
| cl04130 | 451-639 | KCNQ_channel superfamily |
| pfam07885 | 270-348 | Ion_trans_2 |
| cl21560 | 270-348 | Ion_trans_2 superfamily |
| pfam00520 | 158-347 | Ion_trans |
| PLN03192 | 299-375 | PLN03192 |
Ontology Information
| HPRD ID | 5697 |
|---|---|
| Molecular Class | Voltage gated channel |
| Molecular Function | Molecular function unknown (GO:0005554) |
| Biological Process | Biological_process unknown (GO:0000004) |
Drug Information
| Uniprot ID | DrugBank ID | Name | Type |
|---|---|---|---|
| P51787 | DB00808 | Indapamide | SmallMoleculeDrug |
| P51787 | DB01244 | Bepridil | SmallMoleculeDrug |