LOCUS       NM_001320618            3139 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens glutamate ionotropic receptor kainate type subunit 1
            (GRIK1), transcript variant 4, mRNA.
ACCESSION   NM_001320618
VERSION     NM_001320618.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3139)
  AUTHORS   Chatterjee,M., Saha,S., Dutta,N., Sinha,S. and Mukhopadhyay,K.
  TITLE     Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1
            deficiency were detected in the Indian ADHD probands
  JOURNAL   Sci Rep 12 (1), 18449 (2022)
   PUBMED   36323684
  REMARK    GeneRIF: Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1
            deficiency were detected in the Indian ADHD probands.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3139)
  AUTHORS   Herbrechter,R., Hube,N., Buchholz,R. and Reiner,A.
  TITLE     Splicing and editing of ionotropic glutamate receptors: a
            comprehensive analysis based on human RNA-Seq data
  JOURNAL   Cell Mol Life Sci 78 (14), 5605-5630 (2021)
   PUBMED   34100982
REFERENCE   3  (bases 1 to 3139)
  AUTHORS   Lam,J., DuBois,J.M., Rowley,J., Rousset,O.G.,
            Gonzalez-Otarula,K.A., Soucy,J.P., Massarweh,G., Hall,J.A.,
            Guiot,M.C., Zimmermann,M., Minuzzi,L., Rosa-Neto,P. and
            Kobayashi,E.
  TITLE     In vivo hippocampal cornu ammonis 1-3 glutamatergic abnormalities
            are associated with temporal lobe epilepsy surgery outcomes
  JOURNAL   Epilepsia 62 (7), 1559-1568 (2021)
   PUBMED   34060082
  REMARK    GeneRIF: In vivo hippocampal cornu ammonis 1-3 glutamatergic
            abnormalities are associated with temporal lobe epilepsy surgery
            outcomes.
REFERENCE   4  (bases 1 to 3139)
  AUTHORS   Hirbec,H., Francis,J.C., Lauri,S.E., Braithwaite,S.P., Coussen,F.,
            Mulle,C., Dev,K.K., Coutinho,V., Meyer,G., Isaac,J.T.,
            Collingridge,G.L. and Henley,J.M.
  TITLE     Rapid and differential regulation of AMPA and kainate receptors at
            hippocampal mossy fibre synapses by PICK1 and GRIP
  JOURNAL   Neuron 37 (4), 625-638 (2003)
   PUBMED   12597860
  REMARK    Erratum:[Neuron. 2003 May 22;38(4):673. Couthino V [corrected to
            Coutinho V]]
REFERENCE   5  (bases 1 to 3139)
  AUTHORS   Barbon,A. and Barlati,S.
  TITLE     Genomic organization, proposed alternative splicing mechanisms, and
            RNA editing structure of GRIK1
  JOURNAL   Cytogenet Cell Genet 88 (3-4), 236-239 (2000)
   PUBMED   10828597
REFERENCE   6  (bases 1 to 3139)
  AUTHORS   Bortolotto,Z.A., Clarke,V.R., Delany,C.M., Parry,M.C., Smolders,I.,
            Vignes,M., Ho,K.H., Miu,P., Brinton,B.T., Fantaske,R., Ogden,A.,
            Gates,M., Ornstein,P.L., Lodge,D., Bleakman,D. and
            Collingridge,G.L.
  TITLE     Kainate receptors are involved in synaptic plasticity
  JOURNAL   Nature 402 (6759), 297-301 (1999)
   PUBMED   10580501
REFERENCE   7  (bases 1 to 3139)
  AUTHORS   Clarke,V.R., Ballyk,B.A., Hoo,K.H., Mandelzys,A., Pellizzari,A.,
            Bath,C.P., Thomas,J., Sharpe,E.F., Davies,C.H., Ornstein,P.L.,
            Schoepp,D.D., Kamboj,R.K., Collingridge,G.L., Lodge,D. and
            Bleakman,D.
  TITLE     A hippocampal GluR5 kainate receptor regulating inhibitory synaptic
            transmission
  JOURNAL   Nature 389 (6651), 599-603 (1997)
   PUBMED   9335499
REFERENCE   8  (bases 1 to 3139)
  AUTHORS   Nutt,S.L. and Kamboj,R.K.
  TITLE     RNA editing of human kainate receptor subunits
  JOURNAL   Neuroreport 5 (18), 2625-2629 (1994)
   PUBMED   7696618
REFERENCE   9  (bases 1 to 3139)
  AUTHORS   Roche,K.W., Raymond,L.A., Blackstone,C. and Huganir,R.L.
  TITLE     Transmembrane topology of the glutamate receptor subunit GluR6
  JOURNAL   J Biol Chem 269 (16), 11679-11682 (1994)
   PUBMED   8163463
REFERENCE   10 (bases 1 to 3139)
  AUTHORS   Gregor,P., O'Hara,B.F., Yang,X. and Uhl,G.R.
  TITLE     Expression and novel subunit isoforms of glutamate receptor genes
            GluR5 and GluR6
  JOURNAL   Neuroreport 4 (12), 1343-1346 (1993)
   PUBMED   8260617
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC341703.1, AK294353.1,
            AK296404.1, AJ249208.1 and AA404271.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001320618.1.
            
            Summary: Glutamate receptors are the predominant excitatory
            neurotransmitter receptors in the mammalian brain and are activated
            in a variety of normal neurophysiologic processes. This gene
            product belongs to the kainate family of glutamate receptors, which
            are composed of four subunits and function as ligand-activated ion
            channels. The subunit encoded by this gene is subject to RNA
            editing (CAG->CGG; Q->R) within the second transmembrane domain,
            which is thought to alter the properties of ion flow. Alternative
            splicing, resulting in transcript variants encoding different
            isoforms, has been noted for this gene. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK294353.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            undergoes RNA editing :: PMID: 7696618, 10828597
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-354               DC341703.1         57-410
            355-1984            AK294353.1         1-1630
            1985-1985           AK296404.1         2403-2403
            1986-1986           AJ249208.1         1987-1987
            1987-2200           AK296404.1         2405-2618
            2201-2201           AJ249208.1         2202-2202
            2202-2556           AK296404.1         2620-2974
            2557-2740           AK294353.1         2203-2386
            2741-3052           AK296404.1         3159-3470
            3053-3139           AA404271.1         11-97               c
FEATURES             Location/Qualifiers
     source          1..3139
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.3"
     gene            1..3139
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /note="glutamate ionotropic receptor kainate type subunit
                     1"
                     /db_xref="GeneID:2897"
                     /db_xref="HGNC:HGNC:4579"
                     /db_xref="MIM:138245"
     exon            1..614
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     CDS             497..2842
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /note="isoform 4 is encoded by transcript variant 4;
                     excitatory amino acid receptor 3; glutamate receptor 5;
                     glutamate receptor ionotropic, kainate 1; GluK1(del_e2)"
                     /codon_start=1
                     /product="glutamate receptor ionotropic, kainate 1 isoform
                     4"
                     /protein_id="NP_001307547.1"
                     /db_xref="GeneID:2897"
                     /db_xref="HGNC:HGNC:4579"
                     /db_xref="MIM:138245"
                     /translation="MEHGTLLAQPGLWTRDTSWALLYFLCYILPQTAPQVLRIACDQL
                     ALGVAALFGPSHSSSVSAVQSICNALEVPHIQTRWKHPSVDNKDLFYINLYPDYAAIS
                     RAILDLVLYYNWKTVTVVYEDSTGLIRLQELIKAPSRYNIKIKIRQLPSGNKDAKPLL
                     KEMKKGKEFYVIFDCSHETAAEILKQILFMGMMTEYYHYFFTTLDLFALDLELYRYSG
                     VNMTGFRLLNIDNPHVSSIIEKWSMERLQAPPRPETGLLDGMMTTEAALMYDAVYMVA
                     IASHRASQLTVSSLQCHRHKPWRLGPRFMNLIKEARWDGLTGHITFNKTNGLRKDFDL
                     DIISLKEEGTEKIGIWNSNSGLNMTDSNKDKSSNITDSLANRTLIVTTILRADLAVAP
                     LTITYVREKVIDFSKPFMTLGISILYRKPNGTNPGVFSFLNPLSPDIWMYVLLACLGV
                     SCVLFVIARFTPYEWYNPHPCNPDSDVVENNFTLLNSFWFGVGALMQQGSELMPKALS
                     TRIVGGIWWFFTLIIISSYTANLAAFLTVERMESPIDSADDLAKQTKIEYGAVRDGST
                     MTFFKKSKISTYEKMWAFMSSRQQTALVRNSDEGIQRVLTTDYALLMESTSIEYVTQR
                     NCNLTQIGGLIDSKGYGVGTPIGSPYRDKITIAILQLQEEGKLHMMKEKWWRGNGCPE
                     EDNKEASALGVENIGGIFIVLAAGLVLSVFVAIGEFIYKSRKNNDIEQCLSFNAIMEE
                     LGISLKNQKKIKKKSRTKGKSSFTSILTCHQRRTQRKETVA"
     exon            615..872
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            873..1054
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1108
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1282
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1283..1426
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..1534
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1648
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1872
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1873..1991
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1992..2209
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            2210..2435
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            2436..2686
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     exon            2687..3139
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3112..3117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /note="hexamer: AATAAA"
     polyA_site      3139
                     /gene="GRIK1"
                     /gene_synonym="EAA3; EEA3; GLR5; GluK1; gluR-5; GLUR5"
                     /note="major polyA site"
ORIGIN      
        1 agttaacctg ctggagctca tcaggcttgc tcagagcccc tgcaccaact caccctgtac
       61 cctctctcct tcttcgttag tcttctttcc cccttttccc tcctctgtct gtgcctatcc
      121 cccgactttt gcatctgacc aaaggacgaa tgagggagac gttcctgcag atcggggcag
      181 caactttcct cagctggtct ctgggctccg ggagccagag agcgctgatc ctccgcggtc
      241 tgcggcccat ggaagaggag gaggaggagc cgtgatgggc tagcgacagc actgaggagc
      301 cccgagagag ctcagccttg ccagccagct ccgcggtccc acgcgggttc cctcgagctc
      361 gctccgtggg gagcgcgcag cgtgcttgga accggagcat ccagagagga tgaggcgggg
      421 acccggccca agttgggtgc atctctcggg cgtccggcag cggctgtatc tcggcatgaa
      481 ttaagaagct aggaagatgg agcacggcac actcctcgcc cagcccgggc tctggaccag
      541 ggacaccagc tgggcactcc tctatttcct ctgctatatc ctccctcaga ccgccccgca
      601 agtactcagg atcgcatgtg accagctggc tcttggtgtg gctgctctct ttggcccttc
      661 ccatagctcc tccgtcagtg ctgtgcagtc tatttgcaat gctctcgaag ttccacacat
      721 acagacccgc tggaaacacc cctcggtgga caacaaagat ttgttttaca tcaaccttta
      781 cccagattat gcagctatca gcagggcgat cctggatctg gtcctctatt acaactggaa
      841 aacagtgaca gtggtgtatg aagacagcac aggtctaatt cgtctacaag agctcatcaa
      901 agctccctcc agatataata ttaaaatcaa aatccgccag ctgccctctg ggaataaaga
      961 tgccaagcct ttactcaagg agatgaagaa aggcaaggag ttctatgtga tatttgattg
     1021 ttcacatgaa acagccgctg aaatccttaa gcagattctg ttcatgggca tgatgaccga
     1081 gtactatcac tactttttca caaccctgga cttatttgct ttggatctgg aactctatag
     1141 gtacagtggc gtaaacatga ccgggtttcg gctgcttaac attgacaacc ctcacgtgtc
     1201 atccatcatt gagaagtggt ccatggagag actgcaggcc ccacccaggc ccgagactgg
     1261 ccttttggat ggcatgatga caactgaagc ggctctgatg tacgatgctg tgtacatggt
     1321 ggccattgcc tcgcaccggg catcccagct gaccgtcagc tccctgcagt gccatagaca
     1381 taagccatgg cgcctcggac ccagatttat gaacctgatc aaagaggccc ggtgggatgg
     1441 cttgactggg catatcacct ttaataaaac caatggcttg aggaaggatt ttgatctgga
     1501 cattattagt ctcaaagagg aaggaactga aaagattggg atttggaatt ccaacagtgg
     1561 gcttaacatg acggacagca acaaagacaa gtccagcaat atcactgatt cattggccaa
     1621 cagaacactc attgtcacca ccattctgag ggctgacctg gcagtggctc ctcttaccat
     1681 cacctacgtg cgggagaaag tcattgactt ctccaaaccc ttcatgaccc taggcatcag
     1741 cattctctac cggaagccca atggtaccaa tccaggcgtt ttctccttcc tcaaccccct
     1801 gtctccagat atttggatgt atgtgctctt agcctgcttg ggagtcagct gtgtactctt
     1861 tgtgattgca aggtttacac cctacgagtg gtataacccc cacccatgca accctgactc
     1921 agacgtggtg gaaaacaatt ttactttact aaatagtttc tggtttggag ttggagctct
     1981 catgcagcaa ggatcagagc tgatgcccaa agctctatcg accagaatag ttggagggat
     2041 atggtggttt ttcaccctaa tcatcatttc atcctacacg gccaatctgg ctgccttctt
     2101 gacagtagag agaatggaat cccccataga ttcggcagat gatctggcaa agcaaaccaa
     2161 gatagaatat ggggcggtta gagatggatc aacaatgacc ttcttcaaga aatcaaaaat
     2221 ctccacctat gagaagatgt gggctttcat gagcagcagg cagcagaccg ccctggtaag
     2281 aaacagtgat gaggggatcc agagagtgct caccacagac tacgcgctgc tgatggagtc
     2341 caccagcatt gagtatgtga cgcagagaaa ctgcaacctc actcagatcg ggggcctcat
     2401 tgactccaaa ggttacggag tgggaacacc tattggttct ccttaccggg ataaaattac
     2461 tattgctatt cttcaactcc aagaagaagg gaagctgcat atgatgaaag agaagtggtg
     2521 gcgtgggaat ggctgccccg aggaagacaa caaagaagcc agtgccctgg gagtggaaaa
     2581 tattggaggc atcttcattg ttctggctgc cggactggtc ctttctgtat ttgtagctat
     2641 tggagaattc atatacaaat cacggaagaa taatgatatt gaacagtgtc tctctttcaa
     2701 cgctatcatg gaagaactgg gaatctcact gaagaatcag aaaaaaataa agaaaaagtc
     2761 aagaactaag gggaaatctt ccttcacaag tatccttact tgtcatcaga gacgaactca
     2821 gagaaaagag actgtggcgt gatccaagga aacgcctgta ggaagaaaaa ggatgcattc
     2881 cctacagatt tttggagaaa ggatttctga ggagtgtgtg atgtgtttcc atatatctat
     2941 atccataact ctgattatga atacagatat aagaaataca aaagtttaaa aagctcacat
     3001 agatatgact tgggaagtga caccagttct tttaaaataa atttgtatgc tcaattattt
     3061 tgcatttttt ctttttcccc aataaattgt tgtgtgtgct ttctaaataa taataaaaca
     3121 acagggtttt tttccagaa
//
