CACNA1D

CACNA1D
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	3LV3
Dynodwyr
Cyfenwau	CACNA1D, CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD, calcium voltage-gated channel subunit alpha1 D
Dynodwyr allanol	OMIM: 114206 HomoloGene: 578 GeneCards: CACNA1D
Patrwm RNA pattern
	; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• metal ion binding; • voltage-gated ion channel activity; • high voltage-gated calcium channel activity; • ion channel activity; • voltage-gated calcium channel activity involved in cardiac muscle cell action potential; • alpha-actinin binding; • ankyrin binding; • voltage-gated calcium channel activity; • voltage-gated calcium channel activity involved SA node cell action potential; • calcium channel activity; • voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels;
Cydrannau o'r gell	• voltage-gated calcium channel complex; • L-type voltage-gated calcium channel complex; • integral component of membrane; • bilen; • Cellbilen; • Z discdkac; • cochlear hair cell ribbon synapse; • integral component of presynaptic active zone membrane;
Prosesau biolegol	• regulation of atrial cardiac muscle cell membrane repolarization; • regulation of insulin secretion; • adenylate cyclase-modulating G protein-coupled receptor signaling pathway; • calcium ion import; • regulation of ion transmembrane transport; • cludo ïon; • calcium ion transmembrane transport; • transmembrane transport; • regulation of potassium ion transmembrane transporter activity; • membrane depolarization during cardiac muscle cell action potential; • regulation of potassium ion transmembrane transport; • calcium ion transport; • positive regulation of calcium ion transport; • clyw; • cardiac muscle cell action potential involved in contraction; • membrane depolarization during SA node cell action potential; • regulation of heart rate by cardiac conduction; • positive regulation of presynaptic cytosolic calcium concentration; • induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration; • positive regulation of adenylate cyclase activity; • cardiac conduction;
	Sources:Amigo / QuickGO
Orthologau
	776
	n/a
	ENSG00000157388
	n/a
	Q01668
	n/a
	NM_000720; NM_001128839; NM_001128840
	n/a
	NP_000711; NP_001122311; NP_001122312
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn CACNA1D yw CACNA1D a elwir hefyd yn Voltage-dependent L-type calcium channel subunit alpha-1D a Calcium voltage-gated channel subunit alpha1 D (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 3, band 3p21.1.^[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 CACNA1D.

CACH3
CACN4
PASNA
SANDD
Cav1.3
CCHL1A2
CACNL1A2

Llyfryddiaeth

"New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. ". Hum Mol Genet. 2017. PMID 28472301.
"Ultrasound-targeted microbubble destruction of calcium channel subunit α 1D siRNA inhibits breast cancer via G protein-coupled receptor 30. ". Oncol Rep. 2016. PMID 27572936.
"Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current. ". Int J Cardiol. 2016. PMID 27390944.
"Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase or CACNA1D Gene Mutations. ". J Clin Endocrinol Metab. 2016. PMID 26606680.
"Evaluation of genetic susceptibility of common variants in CACNA1D with schizophrenia in Han Chinese.". Sci Rep. 2015. PMID 26255836.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] CACNA1D - Cronfa NCBI

[1]

[2]