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
Species	Bod dynol	Llygoden
Entrez	2902	n/a
Ensembl	ENSG00000176884	n/a
UniProt	Q05586	n/a
RefSeq (mRNA)	NM_000832 NM_001185090 NM_001185091 NM_007327 NM_021569	n/a
RefSeq (protein)	NP_000823 NP_001172019 NP_001172020 NP_015566 NP_067544	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 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.

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.