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 disc • 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 • sensory perception of sound • 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
Species	Bod dynol	Llygoden
Entrez	776	n/a
Ensembl	ENSG00000157388	n/a
UniProt	Q01668	n/a
RefSeq (mRNA)	NM_000720 NM_001128839 NM_001128840	n/a
RefSeq (protein)	NP_000711 NP_001122311 NP_001122312	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 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.

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.