| Type |
Details |
Score |
| Publication |
| First Author: |
Moumne O |
| Year: |
2018 |
| Journal: |
Front Cardiovasc Med |
| Title: |
Mechanism Sharing Between Genetic and Gestational Hypoxia-Induced Cardiac Anomalies. |
| Volume: |
5 |
|
| Pages: |
100 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wu Y |
| Year: |
2024 |
| Journal: |
Theranostics |
| Title: |
Transcriptome analysis reveals EBF1 ablation-induced injuries in cardiac system. |
| Volume: |
14 |
| Issue: |
12 |
| Pages: |
4894-4915 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dykes IM |
| Year: |
2014 |
| Journal: |
Circ Res |
| Title: |
HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region. |
| Volume: |
115 |
| Issue: |
1 |
| Pages: |
23-31 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Van Wauwe J |
| Year: |
2024 |
| Journal: |
Life Sci Alliance |
| Title: |
PRDM16 determines specification of ventricular cardiomyocytes by suppressing alternative cell fates. |
| Volume: |
7 |
| Issue: |
12 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zinina VV |
| Year: |
2023 |
| Journal: |
Cells |
| Title: |
TCF7L1 Controls the Differentiation of Tuft Cells in Mouse Small Intestine. |
| Volume: |
12 |
| Issue: |
11 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Jones SM |
| Year: |
2005 |
| Journal: |
J Assoc Res Otolaryngol |
| Title: |
A quantitative survey of gravity receptor function in mutant mouse strains. |
| Volume: |
6 |
| Issue: |
4 |
| Pages: |
297-310 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
JAX Neuroscience Mutagenesis Facility |
| Year: |
2004 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Heritable mouse mutants from JAX NMF ENU Mutagenesis Program |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gómez-Del Arco P |
| Year: |
2024 |
| Journal: |
Nat Commun |
| Title: |
The G4 resolvase Dhx36 modulates cardiomyocyte differentiation and ventricular conduction system development. |
| Volume: |
15 |
| Issue: |
1 |
| Pages: |
8602 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
JAX Neuroscience Mutagenesis Facility |
| Year: |
2003 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Heritable mouse mutants from JAX NMF ENU Mutagenesis Program |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Reeves RH |
| Year: |
1997 |
| Journal: |
Genomics |
| Title: |
High-resolution recombinational map of mouse chromosome 16. |
| Volume: |
43 |
| Issue: |
2 |
| Pages: |
202-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhou B |
| Year: |
2009 |
| Journal: |
J Clin Invest |
| Title: |
Fog2 is critical for cardiac function and maintenance of coronary vasculature in the adult mouse heart. |
| Volume: |
119 |
| Issue: |
6 |
| Pages: |
1462-76 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Menendez-Montes I |
| Year: |
2016 |
| Journal: |
Dev Cell |
| Title: |
Myocardial VHL-HIF Signaling Controls an Embryonic Metabolic Switch Essential for Cardiac Maturation. |
| Volume: |
39 |
| Issue: |
6 |
| Pages: |
724-739 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gitton Y |
| Year: |
2002 |
| Journal: |
Nature |
| Title: |
A gene expression map of human chromosome 21 orthologues in the mouse. |
| Volume: |
420 |
| Issue: |
6915 |
| Pages: |
586-90 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Reymond A |
| Year: |
2002 |
| Journal: |
Nature |
| Title: |
Human chromosome 21 gene expression atlas in the mouse. |
| Volume: |
420 |
| Issue: |
6915 |
| Pages: |
582-6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Harrell MD |
| Year: |
2007 |
| Journal: |
Physiol Genomics |
| Title: |
Large-scale analysis of ion channel gene expression in the mouse heart during perinatal development. |
| Volume: |
28 |
| Issue: |
3 |
| Pages: |
273-83 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Visel A |
| Year: |
2004 |
| Journal: |
Nucleic Acids Res |
| Title: |
GenePaint.org: an atlas of gene expression patterns in the mouse embryo. |
| Volume: |
32 |
| Issue: |
Database issue |
| Pages: |
D552-6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
International Knockout Mouse Consortium |
| Year: |
2014 |
| Journal: |
Database Download |
| Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lennon G |
| Year: |
1999 |
| Journal: |
Database Download |
| Title: |
WashU-HHMI Mouse EST Project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Velocigene |
| Year: |
2008 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
International Mouse Strain Resource |
| Year: |
2014 |
| Journal: |
Database Download |
| Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
| Year: |
2014 |
| Journal: |
Database Release |
| Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Helmholtz Zentrum Muenchen GmbH |
| Year: |
2010 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu) |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2014 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
UniProt-GOA |
| Year: |
2012 |
|
| Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kawai J |
| Year: |
2001 |
| Journal: |
Nature |
| Title: |
Functional annotation of a full-length mouse cDNA collection. |
| Volume: |
409 |
| Issue: |
6821 |
| Pages: |
685-90 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Adams DJ |
| Year: |
2024 |
| Journal: |
Nature |
| Title: |
Genetic determinants of micronucleus formation in vivo. |
| Volume: |
627 |
| Issue: |
8002 |
| Pages: |
130-136 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGD Nomenclature Committee |
| Year: |
1995 |
|
| Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
| Year: |
2011 |
|
| Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
GOA curators |
| Year: |
2016 |
|
| Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
| Year: |
2004 |
| Journal: |
Database Release |
| Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Okazaki Y |
| Year: |
2002 |
| Journal: |
Nature |
| Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
| Volume: |
420 |
| Issue: |
6915 |
| Pages: |
563-73 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2010 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Diez-Roux G |
| Year: |
2011 |
| Journal: |
PLoS Biol |
| Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
| Volume: |
9 |
| Issue: |
1 |
| Pages: |
e1000582 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
| Year: |
2010 |
|
| Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
| Journal: |
Database Release |
| Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Allen Institute for Brain Science |
| Year: |
2004 |
| Journal: |
Allen Institute |
| Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mansén A |
| Year: |
2010 |
| Journal: |
Acta Physiol (Oxf) |
| Title: |
Thyroid hormone receptor alpha can control action potential duration in mouse ventricular myocytes through the KCNE1 ion channel subunit. |
| Volume: |
198 |
| Issue: |
2 |
| Pages: |
133-42 |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 1, Ivan P Moskowitz |
| Allele Type: |
Transgenic |
| Attribute String: |
Inducible, Recombinase |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion, Bjorn Vennstrom |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tbx5/Tbx5 Tg(Kcne1-cre/ERT2)1Imos/? |
| Background: |
involves: CD-1 |
| Zygosity: |
cn |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Nef P |
| Year: |
1992 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Spatial pattern of receptor expression in the olfactory epithelium. |
| Volume: |
89 |
| Issue: |
19 |
| Pages: |
8948-52 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
congenic, mutant strain, transgenic |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Arnolds DE |
| Year: |
2011 |
| Journal: |
Genesis |
| Title: |
Inducible recombination in the cardiac conduction system of minK: CreERT² BAC transgenic mice. |
| Volume: |
49 |
| Issue: |
11 |
| Pages: |
878-84 |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Tg(Kcne1-cre/ERT2)1Imos/? |
| Background: |
involves: 129S4/SvJaeSor * CD-1 |
| Zygosity: |
cn |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Knollmann BC |
| Year: |
2007 |
| Journal: |
Biochem Biophys Res Commun |
| Title: |
Kcnq1 contributes to an adrenergic-sensitive steady-state K+ current in mouse heart. |
| Volume: |
360 |
| Issue: |
1 |
| Pages: |
212-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Arnolds DE |
| Year: |
2012 |
| Journal: |
J Clin Invest |
| Title: |
TBX5 drives Scn5a expression to regulate cardiac conduction system function. |
| Volume: |
122 |
| Issue: |
7 |
| Pages: |
2509-18 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Burnicka-Turek O |
| Year: |
2020 |
| Journal: |
Circ Res |
| Title: |
Transcriptional Patterning of the Ventricular Cardiac Conduction System. |
| Volume: |
127 |
| Issue: |
3 |
| Pages: |
e94-e106 |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Tbx5/Tbx5 Tg(Kcne1-cre/ERT2)1Imos/? |
| Background: |
involves: 129S4/SvJaeSor * CD-1 |
| Zygosity: |
cn |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Becchetti A |
| Year: |
2017 |
| Journal: |
Sci Signal |
| Title: |
The conformational state of hERG1 channels determines integrin association, downstream signaling, and cancer progression. |
| Volume: |
10 |
| Issue: |
473 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Li Y |
| Year: |
2019 |
| Journal: |
Cells |
| Title: |
Regulation of IKs Potassium Current by Isoproterenol in Adult Cardiomyocytes Requires Type 9 Adenylyl Cyclase. |
| Volume: |
8 |
| Issue: |
9 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lv J |
| Year: |
2021 |
| Journal: |
Front Cell Dev Biol |
| Title: |
Deletion of Kcnj16 in Mice Does Not Alter Auditory Function. |
| Volume: |
9 |
|
| Pages: |
630361 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dai W |
| Year: |
2020 |
| Journal: |
Circ Res |
| Title: |
ZO-1 Regulates Intercalated Disc Composition and Atrioventricular Node Conduction. |
| Volume: |
127 |
| Issue: |
2 |
| Pages: |
e28-e43 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
143
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
170
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
71
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
64
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
192
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Abbott GW |
| Year: |
1999 |
| Journal: |
Cell |
| Title: |
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. |
| Volume: |
97 |
| Issue: |
2 |
| Pages: |
175-87 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Abbott GW |
| Year: |
2001 |
| Journal: |
Cell |
| Title: |
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. |
| Volume: |
104 |
| Issue: |
2 |
| Pages: |
217-31 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Schroeder BC |
| Year: |
2000 |
| Journal: |
Nature |
| Title: |
A constitutively open potassium channel formed by KCNQ1 and KCNE3. |
| Volume: |
403 |
| Issue: |
6766 |
| Pages: |
196-9 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
Two types of beta subunit (KCNE and KCNAB) are presently known to associate with voltage-gated alpha subunits (Kv, KCNQ and eag-like). However, not all combinations of alpha and beta subunits are possible. The KCNE family of K+ channel subunits are membrane glycoproteins that possess a single transmembrane (TM) domain. They share no structural relationship with the alpha subunit proteins, which possess pore forming domains. The subunits appear to have a regulatory function, modulating the kinetics and voltage dependence of the alpha subunits of voltage-dependent K+ channels. KCNE subunits are formed from short polypeptides of ~130 amino acids, and are divided into five subfamilies: KCNE1 (MinK/IsK), KCNE2 (MiRP1), KCNE3 (MiRP2), KCNE4 (MiRP3) and KCNE1L (AMMECR2). Potassium channels are the most diverse group of the ion channel family [, ]. They are important in shaping the action potential, and in neuronal excitability and plasticity []. The potassium channel family is composed of several functionally distinct isoforms, which can be broadly separated into 2 groups []: the practically non-inactivating 'delayed' group and the rapidly inactivating 'transient' group.These are all highly similar proteins, with only small amino acid changes causing the diversity of the voltage-dependent gating mechanism, channel conductance and toxin binding properties. Each type of K+channel is activated by different signals and conditions depending on their type of regulation: some open in response to depolarisation of the plasma membrane; others in response to hyperpolarisation or an increase in intracellular calcium concentration; some can be regulated by binding of a transmitter, together with intracellular kinases; while others are regulated by GTP-binding proteins or other second messengers []. In eukaryotic cells, K+channels are involved in neural signalling and generation of the cardiac rhythm, act as effectors in signal transduction pathways involving G protein-coupled receptors (GPCRs) and may have a role in target cell lysis by cytotoxic T-lymphocytes []. In prokaryotic cells, they play a role in the maintenance of ionic homeostasis [].All K+channels discovered so far possess a core of alpha subunits, each comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG), which has been termed the K+selectivity sequence. In families that contain one P-domain, four subunits assemble to form a selective pathway for K+across the membrane. However, it remains unclear how the 2 P-domain subunits assemble to form a selective pore. The functional diversity of these families can arise through homo- or hetero-associations of alpha subunits or association with auxiliary cytoplasmic beta subunits. K+channel subunits containing one pore domain can be assigned into one of two superfamilies: those that possess six transmembrane (TM) domains and those that possess only two TM domains. The six TM domain superfamily can be further subdivided into conserved gene families: the voltage-gated (Kv) channels; the KCNQ channels (originally known as KvLQT channels); the EAG-like K+channels; and three types of calcium (Ca)-activated K+channels (BK, IK and SK) []. The 2TM domain family comprises inward-rectifying K+channels. In addition, there are K+channel alpha-subunits that possess two P-domains. These are usually highly regulated K+selective leak channels. |
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| Protein Domain |
| Type: |
Family |
| Description: |
Potassium channels are the most diverse group of the ion channel family [, ]. They are important in shaping the action potential, and in neuronal excitability and plasticity []. The potassium channel family is composed of several functionally distinct isoforms, which can be broadly separated into 2 groups []: the practically non-inactivating 'delayed' group and the rapidly inactivating 'transient' group.These are all highly similar proteins, with only small amino acid changes causing the diversity of the voltage-dependent gating mechanism, channel conductance and toxin binding properties. Each type of K+channel is activated by different signals and conditions depending on their type of regulation: some open in response to depolarisation of the plasma membrane; others in response to hyperpolarisation or an increase in intracellular calcium concentration; some can be regulated by binding of a transmitter, together with intracellular kinases; while others are regulated by GTP-binding proteins or other second messengers []. In eukaryotic cells, K+channels are involved in neural signalling and generation of the cardiac rhythm, act as effectors in signal transduction pathways involving G protein-coupled receptors (GPCRs) and may have a role in target cell lysis by cytotoxic T-lymphocytes []. In prokaryotic cells, they play a role in the maintenance of ionic homeostasis [].All K+channels discovered so far possess a core of alpha subunits, each comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG), which has been termed the K+selectivity sequence. In families that contain one P-domain, four subunits assemble to form a selective pathway for K+across the membrane. However, it remains unclear how the 2 P-domain subunits assemble to form a selective pore. The functional diversity of these families can arise through homo- or hetero-associations of alpha subunits or association with auxiliary cytoplasmic beta subunits. K+channel subunits containing one pore domain can be assigned into one of two superfamilies: those that possess six transmembrane (TM) domains and those that possess only two TM domains. The six TM domain superfamily can be further subdivided into conserved gene families: the voltage-gated (Kv) channels; the KCNQ channels (originally known as KvLQT channels); the EAG-like K+channels; and three types of calcium (Ca)-activated K+channels (BK, IK and SK) []. The 2TM domain family comprises inward-rectifying K+channels. In addition, there are K+channel alpha-subunits that possess two P-domains. These are usually highly regulated K+selective leak channels.Two types of beta subunit (KCNE and KCNAB) are presently known to associate with voltage-gated alpha subunits (Kv, KCNQ and eag-like). However, not all combinations of alpha and beta subunits are possible. The KCNE family of K+ channel subunits are membrane glycoproteins that possess a single transmembrane (TM) domain. They share no structural relationship with the alpha subunit proteins, which possess pore forming domains. The subunits appear to have a regulatory function, modulating the kinetics and voltage dependence of the alpha subunits of voltage-dependent K+ channels. KCNE subunits are formed from short polypeptides of ~130 amino acids, and are divided into five subfamilies: KCNE1 (MinK/IsK), KCNE2 (MiRP1), KCNE3 (MiRP2), KCNE4 (MiRP3) and KCNE1L (AMMECR2). KCNE2 subunits associate with the eag-like HERG alpha subunits, which arethe pore-forming subunits of cardiac IKr channels. Channels formed solelyfrom HERG subunits display similar properties to native IKr channels;however, they differ in their gating and single channel conductance. Channels formed from both KCNE2 and HERG exhibit properties that are identical to those seen in native IKr channels. Three mutations in the KCNE2gene are associated with long QT syndrome and ventricular fibrillation. These mutations result in channels that open slower and close more rapidly,the net effect being a reduced K+ current []. |
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| Protein Domain |
| Type: |
Family |
| Description: |
Potassium channels are the most diverse group of the ion channel family [, ]. They are important in shaping the action potential, and in neuronal excitability and plasticity []. The potassium channel family is composed of several functionally distinct isoforms, which can be broadly separated into 2 groups []: the practically non-inactivating 'delayed' group and the rapidly inactivating 'transient' group.These are all highly similar proteins, with only small amino acid changes causing the diversity of the voltage-dependent gating mechanism, channel conductance and toxin binding properties. Each type of K+channel is activated by different signals and conditions depending on their type of regulation: some open in response to depolarisation of the plasma membrane; others in response to hyperpolarisation or an increase in intracellular calcium concentration; some can be regulated by binding of a transmitter, together with intracellular kinases; while others are regulated by GTP-binding proteins or other second messengers []. In eukaryotic cells, K+channels are involved in neural signalling and generation of the cardiac rhythm, act as effectors in signal transduction pathways involving G protein-coupled receptors (GPCRs) and may have a role in target cell lysis by cytotoxic T-lymphocytes []. In prokaryotic cells, they play a role in the maintenance of ionic homeostasis [].All K+channels discovered so far possess a core of alpha subunits, each comprising either one or two copies of a highly conserved pore loop domain (P-domain). The P-domain contains the sequence (T/SxxTxGxG), which has been termed the K+selectivity sequence. In families that contain one P-domain, four subunits assemble to form a selective pathway for K+across the membrane. However, it remains unclear how the 2 P-domain subunits assemble to form a selective pore. The functional diversity of these families can arise through homo- or hetero-associations of alpha subunits or association with auxiliary cytoplasmic beta subunits. K+channel subunits containing one pore domain can be assigned into one of two superfamilies: those that possess six transmembrane (TM) domains and those that possess only two TM domains. The six TM domain superfamily can be further subdivided into conserved gene families: the voltage-gated (Kv) channels; the KCNQ channels (originally known as KvLQT channels); the EAG-like K+channels; and three types of calcium (Ca)-activated K+channels (BK, IK and SK) []. The 2TM domain family comprises inward-rectifying K+channels. In addition, there are K+channel alpha-subunits that possess two P-domains. These are usually highly regulated K+selective leak channels.Two types of beta subunit (KCNE and KCNAB) are presently known to associate with voltage-gated alpha subunits (Kv, KCNQ and eag-like). However, not all combinations of alpha and beta subunits are possible. The KCNE family of K+ channel subunits are membrane glycoproteins that possess a single transmembrane (TM) domain. They share no structural relationship with the alpha subunit proteins, which possess pore forming domains. The subunits appear to have a regulatory function, modulating the kinetics and voltage dependence of the alpha subunits of voltage-dependent K+ channels. KCNE subunits are formed from short polypeptides of ~130 amino acids, and are divided into five subfamilies: KCNE1 (MinK/IsK), KCNE2 (MiRP1), KCNE3 (MiRP2), KCNE4 (MiRP3) and KCNE1L (AMMECR2). KCNE3 is known to associate with the pore forming subunits KCNQ1, KCNQ4,HERG and Kv3.4. KCNE3 forms complexes with Kv3.4 in skeletal muscle -KCNE3 mutations have been identified in families with skeletal muscledisorders []. In the intestine, KCNE3 associates with KCNQ1 to formchannels that are stimulated by cAMP and are thought to be involved insecretory diarrhoea and cystic fibrosis []. |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
103
 |
| Fragment?: |
false |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
123
 |
| Fragment?: |
false |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
103
 |
| Fragment?: |
false |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
123
 |
| Fragment?: |
false |
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