RYR1

RYR1
Dynodwyr
Cyfenwau	RYR1, CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR, ryanodine receptor 1, KDS
Dynodwyr allanol	OMIM: 180901 HomoloGene: 68069 GeneCards: RYR1
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• voltage-gated calcium channel activity; • calcium channel activity; • calmodulin binding; • protease binding; • ion channel activity; • GO:0001948, GO:0016582 protein binding; • enzyme binding; • calcium-release channel activity; • ryanodine-sensitive calcium-release channel activity; • calcium-induced calcium release activity; • calcium ion binding; • nucleotide binding; • ATP binding; • metal ion binding;
Cydrannau o'r gell	• cytoplasm; • integral component of membrane; • bilen; • I band; • T-tubule; • Cellbilen; • integral component of plasma membrane; • sarcoplasmic reticulum; • junctional sarcoplasmic reticulum membrane; • terminal cisterna; • smooth endoplasmic reticulum; • cell cortex; • junctional membrane complex; • extracellular exosome; • integral component of organelle membrane; • ryanodine receptor complex; • sarcoplasmic reticulum membrane; • Z discdkac; • cytoplasmic vesicle membrane; • GO:0009327 protein-containing complex; • calcium channel complex; • sarcolemma;
Prosesau biolegol	• ossification involved in bone maturation; • regulation of cardiac conduction; • response to hypoxia; • muscle contraction; • release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; • regulation of cytosolic calcium ion concentration; • outflow tract morphogenesis; • cellular calcium ion homeostasis; • cludo ïon; • multicellular organism development; • cludo transmembrane rhwng ïonau; • skeletal muscle fiber development; • calcium ion transmembrane transport; • response to caffeine; • calcium ion transport; • skin development; • transmembrane transport; • cellular response to caffeine; • protein homotetramerization; • cellular response to calcium ion; • release of sequestered calcium ion into cytosol; • GO:0015915 transport;
	Sources:Amigo / QuickGO
Orthologau
	6261
	n/a
	ENSG00000196218
	n/a
	P21817
	n/a
	NM_000540; NM_001042723
	n/a
	NP_000531; NP_001036188
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn RYR1 yw RYR1 a elwir hefyd yn Ryanodine receptor 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 19, band 19q13.2.^[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 RYR1.

CCO
MHS
RYR
MHS1
RYDR
SKRR
RYR-1
PPP1R137

Llyfryddiaeth

"Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. ". Hum Mutat. 2016. PMID 27586648.
"Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation. ". Am J Physiol Cell Physiol. 2016. PMID 27558158.
"Ryanodine Receptor 1 Polymorphism Is Not Associated with Aneurysmal Subarachnoid Hemorrhage or its Clinical Sequelae. ". World Neurosurg. 2017. PMID 28087430.
"A guide to the 3D structure of the ryanodine receptor type 1 by cryoEM. ". Protein Sci. 2017. PMID 27671094.
"Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.". Prenat Diagn. 2016. PMID 27616680.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] RYR1 - Cronfa NCBI

[1]

[2]