GRIN1

GRIN1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	2HQW, 2NR1, 3BYA, 5H8N, 5H8H, 5H8Q, 5H8F, 5I2N, 5I2K, 5KCJ, 5KDT
Dynodwyr
Cyfenwau	GRIN1, GluN1, MRD8, NMDA1, NMDAR1, NR1, NMD-R1, glutamate ionotropic receptor NMDA type subunit 1, NDHMSR, NDHMSD, DEE101
Dynodwyr allanol	OMIM: 138249 HomoloGene: 7187 GeneCards: GRIN1
Patrwm RNA pattern
	; ; ; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• calcium ion binding; • signaling receptor binding; • glycine binding; • calmodulin binding; • GO:0001948, GO:0016582 protein binding; • cation channel activity; • extracellularly glutamate-gated ion channel activity; • glutamate binding; • calcium channel activity; • NMDA glutamate receptor activity; • ion channel activity; • ionotropic glutamate receptor activity; • neurotransmitter binding; • transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential; • amyloid-beta binding; • glutamate-gated calcium ion channel activity; • signaling receptor activity; • GO:0032403 protein-containing complex binding;
Cydrannau o'r gell	• cytoplasm; • postsynaptic membrane; • bilen; • synapse; • NMDA selective glutamate receptor complex; • neuron projection; • synaptic vesicle; • dendritic spine; • cell surface; • Reticwlwm endoplasmig; • integral component of membrane; • Cellbilen; • GO:0097483, GO:0097481 postsynaptic density; • integral component of plasma membrane; • excitatory synapse; • cell junction; • dendrite; • synaptic cleft; • terminal bouton; • postsynaptic density membrane; • synaptic membrane; • glutamatergic synapse; • integral component of postsynaptic density membrane;
Prosesau biolegol	• GO:1904089 negative regulation of neuron apoptotic process; • pons maturation; • synaptic transmission, glutamatergic; • regulation of respiratory gaseous exchange; • response to amphetamine; • regulation of membrane potential; • regulation of synapse assembly; • learning; • positive regulation of excitatory postsynaptic potential; • response to ethanol; • calcium ion transport; • suckling behavior; • prepulse inhibition; • male mating behavior; • regulation of long-term neuronal synaptic plasticity; • adult locomotory behavior; • regulation of neuron apoptotic process; • cludo ïon; • Cof; • regulation of axonogenesis; • neuromuscular process; • ionotropic glutamate receptor signaling pathway; • excitatory postsynaptic potential; • learning or memory; • social behavior; • regulation of neuronal synaptic plasticity; • associative learning; • startle response; • calcium ion homeostasis; • cation transport; • cellular calcium ion homeostasis; • cation transmembrane transport; • respiratory gaseous exchange by respiratory system; • regulation of synaptic plasticity; • response to morphine; • propylene metabolic process; • conditioned taste aversion; • cerebral cortex development; • GO:0015915 transport; • sensory perception of pain; • olfactory learning; • regulation of cell communication; • visual learning; • ephrin receptor signaling pathway; • MAPK cascade; • regulation of dendrite morphogenesis; • cludo transmembrane rhwng ïonau; • long-term memory; • positive regulation of apoptotic process; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity; • calcium ion transmembrane transport; • regulation of ion transmembrane transport; • brain development; • positive regulation of calcium ion transport into cytosol; • calcium-mediated signaling; • protein heterotetramerization; • GO:0060401 calcium ion transmembrane import into cytosol; • excitatory chemical synaptic transmission; • positive regulation of reactive oxygen species biosynthetic process; • protein localization to postsynaptic membrane; • cellular response to amyloid-beta; • response to glycine; • positive regulation of cysteine-type endopeptidase activity; • regulation of NMDA receptor activity;
	Sources:Amigo / QuickGO
Orthologau
	2902
	n/a
	ENSG00000176884
	n/a
	Q05586
	n/a
	NM_000832; NM_001185090; NM_001185091; NM_007327; NM_021569
	n/a
	NP_000823; NP_001172019; NP_001172020; NP_015566; NP_067544
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn GRIN1 yw GRIN1 a elwir hefyd yn Glutamate ionotropic receptor NMDA type subunit 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 9q34.3.^[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 GRIN1.

NR1
MRD8
GluN1
NMDA1
NMD-R1
NMDAR1

Llyfryddiaeth

"De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. ". Eur J Med Genet. 2017. PMID 28389307.
"Schizophrenia-like phenotypes in mice with NMDA receptor ablation in intralaminar thalamic nucleus cells and gene therapy-based reversal in adults. ". Transl Psychiatry. 2017. PMID 28244984.
"Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. ". Eur J Hum Genet. 2017. PMID 28051072.
"The effect of the NMDA receptor-dependent signaling pathway on cell morphology and melanosome transfer in melanocytes. ". J Dermatol Sci. 2016. PMID 27596138.
"Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.". Neurology. 2016. PMID 27164704.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] GRIN1 - Cronfa NCBI

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