STXBP1

STXBP1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	3PUJ
Dynodwyr
Cyfenwau	STXBP1, MUNC18-1, NSEC1, P67, RBSEC1, UNC18, syntaxin binding protein 1
Dynodwyr allanol	OMIM: 602926 HomoloGene: 2382 GeneCards: STXBP1
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• protein domain specific binding; • protein N-terminus binding; • syntaxin-1 binding; • GO:0001948, GO:0016582 protein binding; • identical protein binding; • syntaxin binding; • protein kinase binding; • SNARE binding; • RNA binding; • phospholipase binding;
Cydrannau o'r gell	• platelet alpha granule; • bilen; • myelin sheath; • Cellbilen; • nucleoplasm; • terminal bouton; • mitocondria; • extracellular exosome; • cytoplasm; • cytosol; • presynaptic active zone membrane; • cnewyllyn cell; • Cytosgerbwd; • axon; • perinuclear region of cytoplasm; • presynapse; • postsynapse; • GO:0009327 protein-containing complex; • phagocytic vesicle; • glutamatergic synapse;
Prosesau biolegol	• GO:1904089 negative regulation of neuron apoptotic process; • exocytosis; • axon target recognition; • protein stabilization; • platelet degranulation; • positive regulation of calcium ion-dependent exocytosis; • glutamate secretion; • regulation of synaptic vesicle fusion to presynaptic active zone membrane; • neuromuscular synaptic transmission; • negative regulation of synaptic transmission, GABAergic; • long-term depression; • protein transport; • positive regulation of exocytosis; • protein localization to plasma membrane; • platelet aggregation; • regulation of SNARE complex assembly; • synaptic vesicle maturation; • vesicle-mediated transport; • GO:0010554 neurotransmitter secretion; • regulation of synaptic vesicle priming; • vesicle docking involved in exocytosis; • GO:0106160 negative regulation of protein-containing complex assembly; • presynaptic dense core vesicle exocytosis; • developmental process involved in reproduction; • regulation of vesicle fusion; • response to estradiol; • positive regulation of mast cell degranulation; • positive regulation of vesicle docking; • positive regulation of glutamate secretion, neurotransmission; • GO:0015915 transport; • synaptic vesicle priming; • cellular response to interferon-gamma; • SNARE complex assembly; • regulation of acrosomal vesicle exocytosis;
	Sources:Amigo / QuickGO
Orthologau
	6812
	n/a
	ENSG00000136854
	n/a
	P61764
	n/a
	NM_003165; NM_001032221
	n/a
NP_001027392; NP_003156; NP_001361235; NP_001361236; NP_001361237;
	NP_001361238; NP_001361239; NP_001361240; NP_001361241; NP_001361242; NP_001361243; NP_001361244
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn STXBP1 yw STXBP1 a elwir hefyd yn Syntaxin binding protein 1 a Syntaxin-binding protein 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 9, band 9q34.11.^[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 STXBP1.

P67
NSEC1
UNC18
RBSEC1
MUNC18-1

Llyfryddiaeth

"Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. ". Brain Dev. 2016. PMID 26384463.
"Analysis of conditional heterozygous STXBP1 mutations in human neurons. ". J Clin Invest. 2015. PMID 26280581.
STXBP1Encephalopathy with Epilepsy. 1993. PMID 27905812.
"STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. ". Neurology. 2016. PMID 26865513.
"Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.". Epilepsia. 2015. PMID 26514728.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] STXBP1 - Cronfa NCBI

[1]

[2]