GRIN1 (англ. Glutamate ionotropic receptor NMDA type subunit 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 9-ї хромосоми. Довжина поліпептидного ланцюга білка становить 938 амінокислот, а молекулярна маса — 105 373.
GRIN1 | |||||||||||||||||
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Ідентифікатори | |||||||||||||||||
Символи | GRIN1, GluN1, MRD8, NMDA1, NMDAR1, NR1, NMD-R1, glutamate ionotropic receptor NMDA type subunit 1, NDHMSR, NDHMSD, DEE101 | ||||||||||||||||
Зовнішні ІД | OMIM: 138249 MGI: 95819 HomoloGene: 7187 GeneCards: GRIN1 | ||||||||||||||||
Пов'язані генетичні захворювання | |||||||||||||||||
autosomal dominant non-syndromic intellectual disability 8 | |||||||||||||||||
Реагує на сполуку | |||||||||||||||||
Гліцин, Аспарагінова кислота, Tetrazolylglycine, N-метил-D-аспартат, homoquinolinic acid, 5,7-dichlorokynurenic acid, lanicemine, CERC-301, neboglamine, priralfinamide, esketamine, кетамін, cns-5161, ketamine hydrochloride, amantadine hydrochloride, orphenadrine citrate | |||||||||||||||||
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Шаблон експресії | |||||||||||||||||
Більше даних | |||||||||||||||||
Ортологи | |||||||||||||||||
Види | Людина | Миша | |||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (мРНК) |
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RefSeq (білок) |
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Локус (UCSC) | Хр. 9: 137.14 – 137.17 Mb | Хр. 2: 25.18 – 25.21 Mb | |||||||||||||||
PubMed search | |||||||||||||||||
Вікідані | |||||||||||||||||
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10 | 20 | 30 | 40 | 50 | ||||
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MSTMRLLTLA | LLFSCSVARA | ACDPKIVNIG | AVLSTRKHEQ | MFREAVNQAN | ||||
KRHGSWKIQL | NATSVTHKPN | AIQMALSVCE | DLISSQVYAI | LVSHPPTPND | ||||
HFTPTPVSYT | AGFYRIPVLG | LTTRMSIYSD | KSIHLSFLRT | VPPYSHQSSV | ||||
WFEMMRVYSW | NHIILLVSDD | HEGRAAQKRL | ETLLEERESK | AEKVLQFDPG | ||||
TKNVTALLME | AKELEARVII | LSASEDDAAT | VYRAAAMLNM | TGSGYVWLVG | ||||
EREISGNALR | YAPDGILGLQ | LINGKNESAH | ISDAVGVVAQ | AVHELLEKEN | ||||
ITDPPRGCVG | NTNIWKTGPL | FKRVLMSSKY | ADGVTGRVEF | NEDGDRKFAN | ||||
YSIMNLQNRK | LVQVGIYNGT | HVIPNDRKII | WPGGETEKPR | GYQMSTRLKI | ||||
VTIHQEPFVY | VKPTLSDGTC | KEEFTVNGDP | VKKVICTGPN | DTSPGSPRHT | ||||
VPQCCYGFCI | DLLIKLARTM | NFTYEVHLVA | DGKFGTQERV | NNSNKKEWNG | ||||
MMGELLSGQA | DMIVAPLTIN | NERAQYIEFS | KPFKYQGLTI | LVKKEIPRST | ||||
LDSFMQPFQS | TLWLLVGLSV | HVVAVMLYLL | DRFSPFGRFK | VNSEEEEEDA | ||||
LTLSSAMWFS | WGVLLNSGIG | EGAPRSFSAR | ILGMVWAGFA | MIIVASYTAN | ||||
LAAFLVLDRP | EERITGINDP | RLRNPSDKFI | YATVKQSSVD | IYFRRQVELS | ||||
TMYRHMEKHN | YESAAEAIQA | VRDNKLHAFI | WDSAVLEFEA | SQKCDLVTTG | ||||
ELFFRSGFGI | GMRKDSPWKQ | NVSLSILKSH | ENGFMEDLDK | TWVRYQECDS | ||||
RSNAPATLTF | ENMAGVFMLV | AGGIVAGIFL | IFIEIAYKRH | KDARRKQMQL | ||||
AFAAVNVWRK | NLQDRKSGRA | EPDPKKKATF | RAITSTLASS | FKRRRSSKDT | ||||
STGGGRGALQ | NQKDTVLPRR | AIEREEGQLQ | LCSRHRES |
Кодований геном білок за функціями належить до рецепторів, іонних каналів, фосфопротеїнів. Задіяний у таких біологічних процесах, як транспорт іонів, транспорт, альтернативний сплайсинг. Білок має сайт для зв'язування з іоном кальцію, іоном магнію. Локалізований у клітинній мембрані, мембрані, клітинних контактах, синапсах.
Література
- Foldes R.L., Rampersad V., Kamboj R.K. (1993). Cloning and sequence analysis of cDNAs encoding human hippocampus N-methyl-D-aspartate receptor subunits: evidence for alternative RNA splicing. Gene. 131: 293—298. PMID 8406025 DOI:10.1016/0378-1119(93)90309-Q
- Planells-Cases R., Sun W., Ferrer-Montiel A.V., Montal M. (1993). Molecular cloning, functional expression, and pharmacological characterization of an N-methyl-D-aspartate receptor subunit from human brain. Proc. Natl. Acad. Sci. U.S.A. 90: 5057—5061. PMID 7685113 DOI:10.1073/pnas.90.11.5057
- Zimmer M., Fink T.M., Franke Y., Lichter P., Spiess J. (1995). Cloning and structure of the gene encoding the human N-methyl-D-aspartate receptor (NMDAR1). Gene. 159: 219—223. PMID 7622053 DOI:10.1016/0378-1119(95)00044-7
- Foldes R.L., Rampersad V., Kamboj R.K. (1994). Cloning and sequence analysis of additional splice variants encoding human N-methyl-D-aspartate receptor (hNR1) subunits. Gene. 147: 303—304. PMID 7926821 DOI:10.1016/0378-1119(94)90089-2
- Tingley W.G., Roche K.W., Thompson A.K., Huganir R.L. (1993). Regulation of NMDA receptor phosphorylation by alternative splicing of the C-terminal domain. Nature. 364: 70—73. PMID 8316301 DOI:10.1038/364070a0
- Papadakis M., Hawkins L.M., Stephenson F.A. (2004). Appropriate NR1-NR1 disulfide-linked homodimer formation is requisite for efficient expression of functional, cell surface N-methyl-D-aspartate NR1/NR2 receptors. J. Biol. Chem. 279: 14703—14712. PMID 14732708 DOI:10.1074/jbc.M313446200
Примітки
- Захворювання, генетично пов'язані з GRIN1 переглянути/редагувати посилання на ВікіДаних.
- Сполуки, які фізично взаємодіють з Glutamate ionotropic receptor NMDA type subunit 1 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:4584 (англ.) . Процитовано 7 вересня 2017.
- (англ.) . Архів оригіналу за 17 вересня 2017. Процитовано 7 вересня 2017.
Див. також
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GRIN1 angl Glutamate ionotropic receptor NMDA type subunit 1 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 9 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 938 aminokislot a molekulyarna masa 105 373 GRIN1Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB2HQW 2NR1 3BYA 5H8N 5H8H 5H8Q 5H8F 5I2N 5I2K 5KCJ 5KDTIdentifikatoriSimvoliGRIN1 GluN1 MRD8 NMDA1 NMDAR1 NR1 NMD R1 glutamate ionotropic receptor NMDA type subunit 1 NDHMSR NDHMSD DEE101Zovnishni ID OMIM 138249 MGI 95819 HomoloGene 7187 GeneCards GRIN1Pov yazani genetichni zahvoryuvannyaautosomal dominant non syndromic intellectual disability 8 Reaguye na spolukuGlicin Asparaginova kislota Tetrazolylglycine N metil D aspartat homoquinolinic acid 5 7 dichlorokynurenic acid lanicemine CERC 301 neboglamine priralfinamide esketamine ketamin cns 5161 ketamine hydrochloride amantadine hydrochloride orphenadrine citrate Ontologiya genaMolekulyarna funkciya 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 bindingKlitinna komponenta citoplazma postsynaptic membrane membrana sinaps NMDA selective glutamate receptor complex neuron projection Sinaptichni bulbashki dendritic spine cell surface endoplazmatichnij retikulum integral component of membrane klitinna membrana GO 0097483 GO 0097481 postsinaptichne ushilnennya integral component of plasma membrane excitatory synapse mizhklitinni kontakti dendrit nejrobiologiya synaptic cleft terminal bouton postsynaptic density membrane synaptic membrane glutamatergic synapse integral component of postsynaptic density membraneBiologichnij proces 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 navchennya 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 ion transport pam yat regulation of axonogenesis neuromuscular process ionotropic glutamate receptor signaling pathway excitatory postsynaptic potential learning or memory socialna povedinka regulation of neuronal synaptic plasticity associative learning perelyak 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 ion transmembrane transport dovgotrivala pam yat 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 activityDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez2902 14810Ensembl ENSG00000176884 ENSMUSG00000026959UniProt Q05586 P35438RefSeq mRNK NM 000832 NM 001185090 NM 001185091 NM 007327 NM 021569NM 001177656 NM 001177657 NM 008169 NM 001372558 NM 001372559NM 001372560 NM 001372561 NM 001372562RefSeq bilok NP 000823 NP 001172019 NP 001172020 NP 015566 NP 067544NP 001171127 NP 001171128 NP 032195 NP 001359487 NP 001359488NP 001359489 NP 001359490 NP 001359491Lokus UCSC Hr 9 137 14 137 17 MbHr 2 25 18 25 21 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MSTMRLLTLALLFSCSVARAACDPKIVNIGAVLSTRKHEQMFREAVNQAN KRHGSWKIQLNATSVTHKPNAIQMALSVCEDLISSQVYAILVSHPPTPND HFTPTPVSYTAGFYRIPVLGLTTRMSIYSDKSIHLSFLRTVPPYSHQSSV WFEMMRVYSWNHIILLVSDDHEGRAAQKRLETLLEERESKAEKVLQFDPG TKNVTALLMEAKELEARVIILSASEDDAATVYRAAAMLNMTGSGYVWLVG EREISGNALRYAPDGILGLQLINGKNESAHISDAVGVVAQAVHELLEKEN ITDPPRGCVGNTNIWKTGPLFKRVLMSSKYADGVTGRVEFNEDGDRKFAN YSIMNLQNRKLVQVGIYNGTHVIPNDRKIIWPGGETEKPRGYQMSTRLKI VTIHQEPFVYVKPTLSDGTCKEEFTVNGDPVKKVICTGPNDTSPGSPRHT VPQCCYGFCIDLLIKLARTMNFTYEVHLVADGKFGTQERVNNSNKKEWNG MMGELLSGQADMIVAPLTINNERAQYIEFSKPFKYQGLTILVKKEIPRST LDSFMQPFQSTLWLLVGLSVHVVAVMLYLLDRFSPFGRFKVNSEEEEEDA LTLSSAMWFSWGVLLNSGIGEGAPRSFSARILGMVWAGFAMIIVASYTAN LAAFLVLDRPEERITGINDPRLRNPSDKFIYATVKQSSVDIYFRRQVELS TMYRHMEKHNYESAAEAIQAVRDNKLHAFIWDSAVLEFEASQKCDLVTTG ELFFRSGFGIGMRKDSPWKQNVSLSILKSHENGFMEDLDKTWVRYQECDS RSNAPATLTFENMAGVFMLVAGGIVAGIFLIFIEIAYKRHKDARRKQMQL AFAAVNVWRKNLQDRKSGRAEPDPKKKATFRAITSTLASSFKRRRSSKDT STGGGRGALQNQKDTVLPRRAIEREEGQLQLCSRHRES A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do receptoriv ionnih kanaliv fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transport ioniv transport alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ionom kalciyu ionom magniyu Lokalizovanij u klitinnij membrani membrani klitinnih kontaktah sinapsah LiteraturaFoldes R L Rampersad V Kamboj R K 1993 Cloning and sequence analysis of cDNAs encoding human hippocampus N methyl D aspartate receptor subunits evidence for alternative RNA splicing Gene 131 293 298 PMID 8406025 DOI 10 1016 0378 1119 93 90309 Q Planells Cases R Sun W Ferrer Montiel A V Montal M 1993 Molecular cloning functional expression and pharmacological characterization of an N methyl D aspartate receptor subunit from human brain Proc Natl Acad Sci U S A 90 5057 5061 PMID 7685113 DOI 10 1073 pnas 90 11 5057 Zimmer M Fink T M Franke Y Lichter P Spiess J 1995 Cloning and structure of the gene encoding the human N methyl D aspartate receptor NMDAR1 Gene 159 219 223 PMID 7622053 DOI 10 1016 0378 1119 95 00044 7 Foldes R L Rampersad V Kamboj R K 1994 Cloning and sequence analysis of additional splice variants encoding human N methyl D aspartate receptor hNR1 subunits Gene 147 303 304 PMID 7926821 DOI 10 1016 0378 1119 94 90089 2 Tingley W G Roche K W Thompson A K Huganir R L 1993 Regulation of NMDA receptor phosphorylation by alternative splicing of the C terminal domain Nature 364 70 73 PMID 8316301 DOI 10 1038 364070a0 Papadakis M Hawkins L M Stephenson F A 2004 Appropriate NR1 NR1 disulfide linked homodimer formation is requisite for efficient expression of functional cell surface N methyl D aspartate NR1 NR2 receptors J Biol Chem 279 14703 14712 PMID 14732708 DOI 10 1074 jbc M313446200PrimitkiZahvoryuvannya genetichno pov yazani z GRIN1 pereglyanuti redaguvati posilannya na VikiDanih Spoluki yaki fizichno vzayemodiyut z Glutamate ionotropic receptor NMDA type subunit 1 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 4584 angl Procitovano 7 veresnya 2017 angl Arhiv originalu za 17 veresnya 2017 Procitovano 7 veresnya 2017 Div takozhHromosoma 9 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi