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; • clyw; • 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
	3784
	n/a
	ENSG00000282076; ENSG00000053918
	n/a
	P51787
	n/a
	NM_181798; NM_000218; NM_181797
	n/a
	NP_000209; NP_861463
	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.^[2]

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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] KCNQ1 - Cronfa NCBI

[1]

[2]