STXBP1

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.

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
Species	Bod dynol	Llygoden
Entrez	6812	n/a
Ensembl	ENSG00000136854	n/a
UniProt	P61764	n/a
RefSeq (mRNA)	NM_003165 NM_001032221	n/a
RefSeq (protein)	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
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

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.