Gene
kcnq1.1
- ID
- ZDB-GENE-061214-5
- Name
- potassium voltage-gated channel, KQT-like subfamily, member 1.1
- Symbol
- kcnq1.1 Nomenclature History
- Previous Names
-
- kcnq1
- zgc:158384
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable outward rectifier potassium channel activity; voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization; and voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Acts upstream of or within cardiac muscle cell action potential; kidney development; and renal filtration. Predicted to be located in several cellular components, including basolateral plasma membrane; cytoplasmic vesicle membrane; and membrane raft. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in membrane. Is expressed in brain; heart; and inner ear. Human ortholog(s) of this gene implicated in heart conduction disease (multiple); long QT syndrome (multiple); and type 2 diabetes mellitus. Orthologous to human KCNQ1 (potassium voltage-gated channel subfamily Q member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Liu et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la026114Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la026115Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la026116Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa27036 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa38635 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa40998 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45295 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zf4043 | Allele with one deletion | Exon 1 | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-kcnq1.1 | O'Hare et al., 2016 | |
| CRISPR2-kcnq1.1 | Cui et al., 2023 | |
| MO1-kcnq1.1 | N/A | (2) |
| MO2-kcnq1.1 | N/A | Liu et al., 2011 |
| MO3-kcnq1.1 | N/A | O'Hare et al., 2016 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial atrial fibrillation | Alliance | Atrial fibrillation, familial, 3 | 607554 |
| Jervell-Lange Nielsen syndrome | Alliance | Jervell and Lange-Nielsen syndrome | 220400 |
| long QT syndrome 1 | Alliance | Long QT syndrome 1 | 192500 |
| long QT syndrome 1 | Alliance | {Long QT syndrome 1, acquired, susceptibility to} | 192500 |
| short QT syndrome | Alliance | Short QT syndrome 2 | 609621 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005821 | Ion transport domain |
| Domain | IPR013821 | Potassium channel, voltage dependent, KCNQ, C-terminal |
| Family | IPR003937 | Potassium channel, voltage dependent, KCNQ |
| Family | IPR005827 | Potassium channel, voltage dependent, KCNQ1 |
| Homologous_superfamily | IPR027359 | Voltage-dependent channel domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Ion transport domain | Potassium channel, voltage dependent, KCNQ | Potassium channel, voltage dependent, KCNQ1 | Potassium channel, voltage dependent, KCNQ, C-terminal | Voltage-dependent channel domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A286YA22 | InterPro | 643 | |||||
| UniProtKB:B0R0K2 | InterPro | 655 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-7P8 | ||
| Encodes | cDNA | MGC:158384 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001123242 (1) | 2475 nt | ||
| Genomic | GenBank:AL928843 (2) | 179577 nt | ||
| Polypeptide | UniProtKB:B0R0K2 (1) | 655 aa |
- Hu, T., Liu, L., Wang, H., Yang, M., Xu, B., Xie, H., Lin, Z., Jin, X., Wang, P., Liu, Y., Sun, H., Liu, S. (2024) RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium. Journal of genetics and genomics = Yi chuan xue bao. 51(5):543-553
- Jiang, X., Ly, O.T., Chen, H., Zhang, Z., Ibarra, B.A., Pavel, M.A., Brown, G.E., Sridhar, A., Tofovic, D., Swick, A., Marszalek, R., Vanoye, C.G., Navales, F., George, A.L., Khetani, S.R., Rehman, J., Gao, Y., Darbar, D., Saxena, A. (2024) Transient titin-dependent ventricular defects during development lead to adult atrial arrhythmia and impaired contractility. iScience. 27:110395110395
- Kasuya, G., Zempo, B., Yamamoto, Y., Ryu, K., Ono, F., Nakajo, K. (2024) Identification of KCNE6, a new member of the KCNE family of potassium channel auxiliary subunits. Communications biology. 7:16621662
- Chiang, D.Y., Verkerk, A.O., Victorio, R., Shneyer, B.I., van der Vaart, B., Jouni, M., Narendran, N., Kc, A., Sampognaro, J.R., Vetrano-Olsen, F., Oh, J.S., Buys, E., de Jonge, B., Shah, D.A., Kiviniemi, T., Burridge, P.W., Bezzina, C.R., Akhmanova, A., MacRae, C.A. (2023) The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction. Circulation research. 134(1):46-59
- Cui, S., Hayashi, K., Kobayashi, I., Hosomichi, K., Nomura, A., Teramoto, R., Usuda, K., Okada, H., Deng, Y., Kobayashi-Sun, J., Nishikawa, T., Furusho, H., Saito, T., Hirase, H., Ohta, K., Fujimoto, M., Horita, Y., Kusayama, T., Tsuda, T., Tada, H., Kato, T., Usui, S., Sakata, K., Fujino, N., Tajima, A., Yamagishi, M., Takamura, M. (2023) The utility of zebrafish cardiac arrhythmia model to predict the pathogenicity of KCNQ1 variants. Journal of Molecular and Cellular Cardiology. 177:50-61
- De la Cruz, A., Wu, X., Rainer, Q.C., Hiniesto-Iñigo, I., Perez, M.E., Edler, I., Liin, S.I., Larsson, H.P. (2023) Pharmacological Screening of Kv7.1 and Kv7.1/KCNE1 Activators as Potential Antiarrhythmic Drugs in the Zebrafish Heart. International Journal of Molecular Sciences. 24(15):
- Marchal, G.A., Jouni, M., Chiang, D.Y., Pérez-Hernández Duran, M., Podliesna, S., Yu, N., Casini, S., Potet, F., Veerman, C.C., Klerk, M., Lodder, E.M., Mengarelli, I., Guan, K., Vanoye, C.G., Rothenberg, E., Charpentier, F., Redon, R., George, A., Verkerk, A.O., Bezzina, C.R., MacRae, C.A., Burridge, P., Delmar, M., Galjart, N.J., Portero, V., Remme, C.A. (2021) Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs. Circulation research. 129(3):349-365
- Gou, D., Zhou, J., Song, Q., Wang, Z., Bai, X., Zhang, Y., Zuo, M., Wang, F., Chen, A., Yousaf, M., Yang, Z., Peng, H., Li, K., Xie, W., Tang, J., Yao, Y., Han, M., Ke, T., Chen, Q., Xu, C., Wang, Q. (2020) Mog1 knockout causes cardiac hypertrophy and heart failure by downregulating tbx5-cryab-hspb2 signaling in zebrafish. Acta physiologica (Oxford, England). 231(3):e13567
- Jedrychowska, J., Gasanov, E.V., Korzh, V. (2020) Kcnb1 plays a role in development of the inner ear. Developmental Biology. 471:65-75
- Sun, S., Li, X., Liu, Z., Zhang, G., Yang, C., Jiang, Q., Zou, Y. (2019) Expression of nucleosome assembly protein 1 like genes in zebrafish embryos. Gene expression patterns : GEP. 35:119076
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