NRXN1

NRXN1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3B3Q
Dynodwyr
Cyfenwau	NRXN1, Hs.22998, PTHSL2, SCZD17, neurexin 1
Dynodwyr allanol	OMIM: 600565 HomoloGene: 21005 GeneCards: NRXN1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • metal ion binding • calcium-dependent protein binding • neuroligin family protein binding • signaling receptor binding • transmembrane signaling receptor activity • cell adhesion molecule binding • GO:0001948, GO:0016582 protein binding • type 1 fibroblast growth factor receptor binding • calcium ion binding • acetylcholine receptor binding • calcium channel regulator activity • signaling receptor activity Cydrannau o'r gell • integral component of membrane • fesigl • nuclear membrane • bilen • endocytic vesicle • axonal growth cone • synapse • cell surface • cell junction • neuronal cell body • Reticwlwm endoplasmig • presynaptic membrane • Cellbilen • integral component of presynaptic membrane • presynapse • integral component of plasma membrane • nucleolus • GO:0009327 protein-containing complex • Schaffer collateral - CA1 synapse • glutamatergic synapse • GABA-ergic synapse • integral component of presynaptic active zone membrane Prosesau biolegol • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules • receptor localization to synapse • heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules • NMDA glutamate receptor clustering • establishment of protein localization • neuron cell-cell adhesion • gamma-aminobutyric acid receptor clustering • neuronal signal transduction • gephyrin clustering involved in postsynaptic density assembly • postsynaptic density protein 95 clustering • learning • regulation of AMPA receptor activity • negative regulation of filopodium assembly • presynaptic membrane assembly • regulation of NMDA receptor activity • vocalization behavior • neuroligin clustering involved in postsynaptic membrane assembly • adult behavior • positive regulation of synaptic transmission, glutamatergic • postsynaptic membrane assembly • cell adhesion • angiogenesis • positive regulation of excitatory postsynaptic potential • social behavior • guanylate kinase-associated protein clustering • synapse assembly • protein-containing complex assembly involved in synapse maturation • synaptic vesicle clustering • protein localization to synapse • GO:0072468 signal transduction • cerebellar granule cell differentiation • positive regulation of synapse assembly • positive regulation of presynaptic active zone assembly • positive regulation of protein localization to plasma membrane • GO:1901313 positive regulation of gene expression • negative regulation of gene expression • positive regulation of protein kinase A signaling • neuron projection development • positive regulation of peptidyl-serine phosphorylation • positive regulation of fibroblast growth factor receptor signaling pathway • positive regulation of protein kinase B signaling • positive regulation of ERK1 and ERK2 cascade • cellular response to calcium ion • positive regulation of protein kinase C activity • vocal learning • chemical synaptic transmission • regulation of insulin secretion involved in cellular response to glucose stimulus • axon guidance • prepulse inhibition • neuromuscular process controlling balance • positive regulation of synapse maturation • GO:0010554 neurotransmitter secretion • regulation of grooming behavior • synaptic membrane adhesion • regulation of synaptic vesicle cycle • regulation of postsynaptic specialization assembly • regulation of presynapse assembly • regulation of postsynaptic density assembly • trans-synaptic signaling by endocannabinoid Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	9378	n/a
Ensembl	ENSG00000179915	n/a
UniProt	P58400 Q9ULB1 Q49A31	n/a
RefSeq (mRNA)	NM_001135659 NM_004801 NM_138735 NM_001320156 NM_001320157 NM_001330077 NM_001330078 NM_001330079 NM_001330081 NM_001330082 NM_001330083 NM_001330084 NM_001330085 NM_001330086 NM_001330087 NM_001330088 NM_001330089 NM_001330090 NM_001330091 NM_001330092 NM_001330093 NM_001330094 NM_001330095 NM_001330096 NM_001330097	n/a
RefSeq (protein)	NP_001129131 NP_001307085 NP_001307086 NP_001317006 NP_001317007 NP_001317008 NP_001317010 NP_001317011 NP_001317012 NP_001317013 NP_001317014 NP_001317015 NP_001317016 NP_001317017 NP_001317018 NP_001317019 NP_001317020 NP_001317021 NP_001317022 NP_001317023 NP_001317024 NP_001317025 NP_001317026 NP_004792 NP_620072 NP_001129131.1 NP_004792.1 NP_620072.1 NP_004792.1 NP_004792.1 NP_620072.1	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 NRXN1 yw NRXN1 a elwir hefyd yn Neurexin-1 a Neurexin 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 2, band 2p16.3.

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 NRXN1.

• PTHSL2
• SCZD17
• Hs.22998

Llyfryddiaeth

• "Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1. ". Cell Stem Cell. 2015. PMID 26279266.
• "Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging. ". Mol Psychiatry. 2016. PMID 26216298.
• "Retrograde Synaptic Inhibition Is Mediated by α-Neurexin Binding to the α2δ Subunits of N-Type Calcium Channels. ". Neuron. 2017. PMID 28669545.
• "Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. ". Genet Med. 2017. PMID 27195815.
• "One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins.". Twin Res Hum Genet. 2016. PMID 26899349.