Official symbol | KCNQ1 |
Gene id | 3784 |
Organism | Homo sapiens |
Official full symbol | potassium voltage-gated channel subfamily Q member 1 |
Gene type | protein-coding |
Also known as | ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS |
Summary | 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. |
Genomic regions | Chromosome 11 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
KCNQ1-201 | ENST00000155840.12 | 3224 | 676aa | Protein coding | CCDS7736 | P51787-1 | NM_000218.3 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
KCNQ1-202 | ENST00000335475.6 | 2907 | 549aa | Protein coding | - | P51787-2 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
KCNQ1-207 | ENST00000646564.1 | 1375 | 310aa | Protein coding | - | A0A2R8YEQ9 | - | CDS 5' incomplete, |
KCNQ1-206 | ENST00000526095.2 | 828 | 144aa | Protein coding | - | A0A2R8YDV1 | - | TSL:3, GENCODE basic, |
KCNQ1-205 | ENST00000496887.6 | 582 | 193aa | Protein coding | - | E9PPZ0 | - | CDS 3' incomplete, TSL:5, |
KCNQ1-204 | ENST00000380776.4 | 229 | 74aa | Protein coding | - | F8W824 | - | CDS 3' incomplete, TSL:5, |
KCNQ1-203 | ENST00000345015.4 | 304 | No protein | Processed transcript | - | - | - | TSL:1, |
Target Gene | KCNQ1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene KCNQ1 had been KO in hela cell line. |
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