KCNQ1

KCNQ1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3BJ4, 3HFC, 3HFE, 4UMO, 4V0C
Dynodwyr
Cyfenwau	KCNQ1, ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS, potassium voltage-gated channel subfamily Q member 1
Dynodwyr allanol	OMIM: 607542 HomoloGene: 85014 GeneCards: KCNQ1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization • scaffold protein binding • protein kinase A regulatory subunit binding • calmodulin binding • ion channel activity • voltage-gated potassium channel activity • transmembrane transporter binding • outward rectifier potassium channel activity • delayed rectifier potassium channel activity • potassium channel activity • GO:0001948, GO:0016582 protein binding • phosphatidylinositol-4,5-bisphosphate binding • protein kinase A catalytic subunit binding • voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization • protein phosphatase 1 binding • voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization • voltage-gated ion channel activity Cydrannau o'r gell • integral component of membrane • GO:0016023 cytoplasmic vesicle • endosome • cytoplasmic vesicle membrane • voltage-gated potassium channel complex • bilen • lysosome • Reticwlwm endoplasmig • membrane raft • basolateral plasma membrane • Cellbilen • ion channel complex • cytoplasm • late endosome • early endosome Prosesau biolegol • regulation of ventricular cardiac muscle cell membrane repolarization • negative regulation of delayed rectifier potassium channel activity • intestinal absorption • regulation of atrial cardiac muscle cell membrane repolarization • positive regulation of cardiac muscle contraction • cellular response to epinephrine stimulus • positive regulation of potassium ion transmembrane transport • renal absorption • negative regulation of voltage-gated potassium channel activity • inner ear development • cardiac muscle contraction • regulation of gene expression by genetic imprinting • sensory perception of sound • atrial cardiac muscle cell action potential • regulation of heart rate by cardiac conduction • cellular response to cAMP • regulation of gastric acid secretion • transmembrane transport • ventricular cardiac muscle cell action potential • regulation of ion transmembrane transport • regulation of membrane repolarization • cludo ïon • potassium ion export across plasma membrane • positive regulation of heart rate • potassium ion transmembrane transport • membrane repolarization during cardiac muscle cell action potential • potassium ion transport • regulation of heart contraction • membrane repolarization • membrane repolarization during action potential • membrane repolarization during ventricular cardiac muscle cell action potential • membrane repolarization during atrial cardiac muscle cell action potential • cardiac conduction Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	3784	n/a
Ensembl	ENSG00000282076 ENSG00000053918	n/a
UniProt	P51787	n/a
RefSeq (mRNA)	NM_181798 NM_000218 NM_181797	n/a
RefSeq (protein)	NP_000209 NP_861463	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn KCNQ1 yw KCNQ1 a elwir hefyd yn Potassium voltage-gated channel subfamily Q member 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 11, band 11p15.5-p15.4.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn KCNQ1.

• LQT
• RWS
• WRS
• LQT1
• SQT2
• ATFB1
• ATFB3
• JLNS1
• KCNA8
• KCNA9
• Kv1.9
• Kv7.1
• KVLQT1

Llyfryddiaeth

• "Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. ". Eur J Med Genet. 2017. PMID 28249770.
• "Role of DNA Methylation in Type 2 Diabetes Etiology: Using Genotype as a Causal Anchor. ". Diabetes. 2017. PMID 28246294.
• "Potassium channel gene associations with joint processing speed and white matter impairments in schizophrenia. ". Genes Brain Behav. 2017. PMID 28188958.
• "Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families. ". Int Heart J. 2017. PMID 28003625.
• "Loss of KCNQ1 expression in stage II and stage III colon cancer is a strong prognostic factor for disease recurrence.". Br J Cancer. 2016. PMID 27855440.