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; • soma; • 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
	9378
	n/a
	ENSG00000179915
	n/a
	P58400; Q9ULB1; Q49A31
	n/a
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
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
	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.^[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 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 α2Î´ 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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] NRXN1 - Cronfa NCBI

[1]

[2]