LOCUS       NM_000817               3279 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens glutamate decarboxylase 1 (GAD1), transcript variant
            GAD67, mRNA.
ACCESSION   NM_000817
VERSION     NM_000817.3
KEYWORDS    RefSeq; MANE Select.
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 3279)
  AUTHORS   Gao,Z. and Yang,J.
  TITLE     GAD1 ameliorates glioma progression through regulating cuproptosis
            via RAS/MAPK pathway
  JOURNAL   J Biochem Mol Toxicol 38 (10), e23848 (2024)
   PUBMED   39264832
  REMARK    GeneRIF: GAD1 ameliorates glioma progression through regulating
            cuproptosis via RAS/MAPK pathway.
REFERENCE   2  (bases 1 to 3279)
  AUTHORS   Storozheva,Z.I., Kirenskaya,A.V., Samylkin,D.V., Gruden,M.A. and
            Sewell,R.D.E.
  TITLE     Association of GAD1 gene polymorphism rs3749034 with the
            information processing and cognitive event-related potentials in
            schizophrenia patients and healthy subjects
  JOURNAL   Clin Neurophysiol 166, 142-151 (2024)
   PUBMED   39168087
  REMARK    GeneRIF: Association of GAD1 gene polymorphism rs3749034 with the
            information processing and cognitive event-related potentials in
            schizophrenia patients and healthy subjects.
REFERENCE   3  (bases 1 to 3279)
  AUTHORS   Miyazawa,A., Kanahara,N., Kogure,M., Otsuka,I., Okazaki,S.,
            Watanabe,Y., Yamasaki,F., Nakata,Y., Oda,Y., Hishimoto,A. and
            Iyo,M.
  TITLE     A preliminary genetic association study of GAD1 and GABAB receptor
            genes in patients with treatment-resistant schizophrenia
  JOURNAL   Mol Biol Rep 49 (3), 2015-2024 (2022)
   PUBMED   34845648
  REMARK    GeneRIF: A preliminary genetic association study of GAD1 and GABAB
            receptor genes in patients with treatment-resistant schizophrenia.
REFERENCE   4  (bases 1 to 3279)
  AUTHORS   Sadrirad,S., Samadi,N., Nikanfar,M., Moayed,Z.B., Laghousi,D.,
            Hasanzade,Z., Maroufi,N.F. and Nourazarian,A.
  TITLE     Evaluation of the Diagnostic and Predictive Value of Glutamic Acid
            Decarboxylase, Zinc Transporter 8 Serum Levels in Alzheimer's
            Disease
  JOURNAL   Clin Lab 68 (1) (2022)
   PUBMED   35023669
  REMARK    GeneRIF: Evaluation of the Diagnostic and Predictive Value of
            Glutamic Acid Decarboxylase, Zinc Transporter 8 Serum Levels in
            Alzheimer's Disease.
REFERENCE   5  (bases 1 to 3279)
  AUTHORS   Gu,S.M., Seo,S., Park,D., Kim,S., Lamichhane,S., Han,K.M.,
            Kim,Y.H., Lee,S., Hong,J.T., Cha,H.J. and Yun,J.
  TITLE     Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior via
            Glutamate Decarboxylase 67 Transcription
  JOURNAL   Int J Mol Sci 22 (19), 10486 (2021)
   PUBMED   34638827
  REMARK    GeneRIF: Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior
            via Glutamate Decarboxylase 67 Transcription.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3279)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   7  (bases 1 to 3279)
  AUTHORS   Kelly,C.D., Edwards,Y., Johnstone,A.P., Harfst,E., Nogradi,A.,
            Nussey,S.S., Povey,S. and Carter,N.D.
  TITLE     Nucleotide sequence and chromosomal assignment of a cDNA encoding
            the large isoform of human glutamate decarboxylase
  JOURNAL   Ann Hum Genet 56 (3), 255-265 (1992)
   PUBMED   1339255
REFERENCE   8  (bases 1 to 3279)
  AUTHORS   Bu,D.F., Erlander,M.G., Hitz,B.C., Tillakaratne,N.J., Kaufman,D.L.,
            Wagner-McPherson,C.B., Evans,G.A. and Tobin,A.J.
  TITLE     Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are
            each encoded by a single gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2115-2119 (1992)
   PUBMED   1549570
REFERENCE   9  (bases 1 to 3279)
  AUTHORS   Giorda,R., Peakman,M., Tan,K.C., Vergani,D. and Trucco,M.
  TITLE     Glutamic acid decarboxylase expression in islets and brain
  JOURNAL   Lancet 338 (8780), 1469-1470 (1991)
   PUBMED   1683463
REFERENCE   10 (bases 1 to 3279)
  AUTHORS   Persson,H., Pelto-Huikko,M., Metsis,M., Soder,O., Brene,S.,
            Skog,S., Hokfelt,T. and Ritzen,E.M.
  TITLE     Expression of the neurotransmitter-synthesizing enzyme glutamic
            acid decarboxylase in male germ cells
  JOURNAL   Mol Cell Biol 10 (9), 4701-4711 (1990)
   PUBMED   1697032
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007405.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000817.2.
            
            Summary: This gene encodes one of several forms of glutamic acid
            decarboxylase, identified as a major autoantigen in
            insulin-dependent diabetes. The enzyme encoded is responsible for
            catalyzing the production of gamma-aminobutyric acid from
            L-glutamic acid. A pathogenic role for this enzyme has been
            identified in the human pancreas since it has been identified as an
            autoantigen and an autoreactive T cell target in insulin-dependent
            diabetes. This gene may also play a role in the stiff man syndrome.
            Deficiency in this enzyme has been shown to lead to pyridoxine
            dependency with seizures. Alternative splicing of this gene results
            in two products, the predominant 67-kD form and a less-frequent
            25-kD form. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: Transcript variant GAD67 represents the
            full-length and predominant form of this gene.
            
            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 :: BC026349.1, BC037780.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358196.8/ ENSP00000350928.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-162               AC007405.6         72354-72515         c
            163-307             AC007405.6         70729-70873         c
            308-370             AC007405.6         67253-67315         c
            371-529             AC007405.6         59769-59927         c
            530-772             AC007405.6         58210-58452         c
            773-863             AC007405.6         52519-52609         c
            864-976             AC007405.6         45245-45357         c
            977-1092            AC007405.6         43781-43896         c
            1093-1172           AC007405.6         43617-43696         c
            1173-1227           AC007405.6         43339-43393         c
            1228-1344           AC007405.6         41610-41726         c
            1345-1409           AC007405.6         40052-40116         c
            1410-1488           AC007405.6         36610-36688         c
            1489-1638           AC007405.6         35380-35529         c
            1639-1746           AC007405.6         32277-32384         c
            1747-1836           AC007405.6         30509-30598         c
            1837-3279           AC007405.6         28251-29693         c
FEATURES             Location/Qualifiers
     source          1..3279
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..3279
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /note="glutamate decarboxylase 1"
                     /db_xref="GeneID:2571"
                     /db_xref="HGNC:HGNC:4092"
                     /db_xref="MIM:605363"
     exon            1..162
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            163..307
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     CDS             226..2010
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /EC_number="4.1.1.15"
                     /note="isoform GAD67 is encoded by transcript variant
                     GAD67; GAD-67; 67 kDa glutamic acid decarboxylase;
                     glutamate decarboxylase 1 (brain, 67kDa)"
                     /codon_start=1
                     /product="glutamate decarboxylase 1 isoform GAD67"
                     /protein_id="NP_000808.2"
                     /db_xref="CCDS:CCDS2239.1"
                     /db_xref="GeneID:2571"
                     /db_xref="HGNC:HGNC:4092"
                     /db_xref="MIM:605363"
                     /translation="MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLG
                     LKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARD
                     LLPAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSD
                     HPESLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEI
                     APVFVLMEQITLKKMREIVGWSSKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGM
                     AAVPKLVLFTSEQSHYSIKKAGAALGFGTDNVILIKCNERGKIIPADFEAKILEAKQK
                     GYVPFYVNATAGTTVYGAFDPIQEIADICEKYNLWLHVDAAWGGGLLMSRKHRHKLNG
                     IERANSVTWNPHKMMGVLLQCSAILVKEKGILQGCNQMCAGYLFQPDKQYDVSYDTGD
                     KAIQCGRHVDIFKFWLMWKAKGTVGFENQINKCLELAEYLYAKIKNREEFEMVFNGEP
                     EHTNVCFWYIPQSLRGVPDSPQRREKLHKVAPKIKALMMESGTTMVGYQPQGDKANFF
                     RMVISNPAATQSDIDFLIEEIERLGQDL"
     exon            308..370
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            371..529
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            530..772
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            773..863
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            864..976
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1092
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1172
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1227
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1228..1344
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1409
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1488
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1638
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1639..1746
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1747..1836
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     exon            1837..3279
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3245..3250
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /note="hexamer: AATAAA"
     polyA_site      3279
                     /gene="GAD1"
                     /gene_synonym="CPSQ1; DEE89; GAD; SCP"
                     /note="major polyA site"
ORIGIN      
        1 ctcttctcct ggcgctcgcg tgcgagaggg aactagcgag aacgaggaag cagctggagg
       61 tgacgccggg cagattacgc ctgtcagggc cgagccgagc ggatcgctgg gcgctgtgca
      121 gaggaaaggc gggagtgccc ggctcgctgt cgcagagccg agcctgtttc tgcgccggac
      181 cagtcgagga ctctggacag tagaggcccc gggacgaccg agctgatggc gtcttcgacc
      241 ccatcttcgt ccgcaacctc ctcgaacgcg ggagcggacc ccaataccac taacctgcgc
      301 cccacaacgt acgatacctg gtgcggcgtg gcccatggat gcaccagaaa actggggctc
      361 aagatctgcg gcttcttgca aaggaccaac agcctggaag agaagagtcg ccttgtgagt
      421 gccttcaagg agaggcaatc ctccaagaac ctgctttcct gtgaaaacag cgaccgggat
      481 gcccgcttcc ggcgcacaga gactgacttc tctaatctgt ttgctagaga tctgcttccg
      541 gctaagaacg gtgaggagca aaccgtgcaa ttcctcctgg aagtggtgga catactcctc
      601 aactatgtcc gcaagacatt tgatcgctcc accaaggtgc tggactttca tcacccacac
      661 cagttgctgg aaggcatgga gggcttcaac ttggagctct ctgaccaccc cgagtccctg
      721 gagcagatcc tggttgactg cagagacacc ttgaagtatg gggttcgcac aggtcatcct
      781 cgatttttca accagctctc cactggattg gatattattg gcctagctgg agaatggctg
      841 acatcaacgg ccaataccaa catgtttaca tatgaaattg caccagtgtt tgtcctcatg
      901 gaacaaataa cacttaagaa gatgagagag atagttggat ggtcaagtaa agatggtgat
      961 gggatatttt ctcctggggg cgccatatcc aacatgtaca gcatcatggc tgctcgctac
     1021 aagtacttcc cggaagttaa gacaaagggc atggcggctg tgcctaaact ggtcctcttc
     1081 acctcagaac agagtcacta ttccataaag aaagctgggg ctgcacttgg ctttggaact
     1141 gacaatgtga ttttgataaa gtgcaatgaa agggggaaaa taattccagc tgattttgag
     1201 gcaaaaattc ttgaagccaa acagaaggga tatgttccct tttatgtcaa tgcaactgct
     1261 ggcacgactg tttatggagc ttttgatccg atacaagaga ttgcagatat atgtgagaaa
     1321 tataaccttt ggttgcatgt cgatgctgcc tggggaggtg ggctgctcat gtccaggaag
     1381 caccgccata aactcaacgg catagaaagg gccaactcag tcacctggaa ccctcacaag
     1441 atgatgggcg tgctgttgca gtgctctgcc attctcgtca aggaaaaggg tatactccaa
     1501 ggatgcaacc agatgtgtgc aggatacctc ttccagccag acaagcagta tgatgtctcc
     1561 tacgacaccg gggacaaggc aattcagtgt ggccgccacg tggatatctt caagttctgg
     1621 ctgatgtgga aagcaaaggg cacagtggga tttgaaaacc agatcaacaa atgcctggaa
     1681 ctggctgaat acctctatgc caagattaaa aacagagaag aatttgagat ggttttcaat
     1741 ggcgagcctg agcacacaaa cgtctgtttt tggtatattc cacaaagcct caggggtgtg
     1801 ccagacagcc ctcaacgacg ggaaaagcta cacaaggtgg ctccaaaaat caaagccctg
     1861 atgatggagt caggtacgac catggttggc taccagcccc aaggggacaa ggccaacttc
     1921 ttccggatgg tcatctccaa cccagccgct acccagtctg acattgactt cctcattgag
     1981 gagatagaaa gactgggcca ggatctgtaa tcatccttcg cagaacatga gtttatggga
     2041 atgccttttc cctctggcac tccagaacaa acctctatat gttgctgaaa cacacaggcc
     2101 atttcattga gggaaaacat aatatcttga agaatattgt taaaacctta cttaaagctt
     2161 gtttgttcta gttagcagga aatagtgttc tttttaaaaa gttgcacatt aggaacagag
     2221 tatatatgta cagttataca tacctctctc tatatataca tgtatagtga gtgtggctta
     2281 gtaatagatc acggcatgtt tcccgctcca agagaattca ctttaccttc agcagttacc
     2341 gaggagctaa acatgctgcc aaccagcttg tccaacaact ccaggaaaac tgtttttcaa
     2401 aacgccatgt cctaggggcc gagggaaatg ctgttggtga gaatcgacct cactgtcagc
     2461 gtttctccac ctgaagtgat gatggatgag aaaaaacacc accaaatgac aagtcacacc
     2521 ctccccatta gtatcctgtt aggggaaaat agtagcagag tcattgttac aggtgtacta
     2581 tggctgtatt tttagagatt aatttgtgta gattgtgtaa attcctgttg tctgaccttg
     2641 gtggtgggag ggggagacta tgtgtcatga tttcaatgat tgtttaattg taggtcaatg
     2701 aaatatttgc ttatttatat tcagagatgt accatgttaa agaggcgtct tgtattttct
     2761 tcccatttgt aatgtatctt atttatatat gaagtaagtt ctgaaaactg tttatggtat
     2821 tttcgtgcat ttgtgagcca aagagaaaag attaaaatta gtgagatttg tatttatatt
     2881 agagtgccct taaaataatg atttaagcat tttactgtct gtaagagaat tctaagattg
     2941 tacataaagt catatatatg gaaatcctgt tacttaaata gcatctgctc ttctcttacg
     3001 ctctctgtct ggctgtacgt ctggtgttct caatgctttt ctagcaactg ttggataata
     3061 actagatctc ctgtaatttt gtagtagttg atgaccaatc tctgtgactc gcttagctga
     3121 aacctaaggc aacatttccg aagaccttct gaagatctca gataaagtga ccaggctcac
     3181 aactgttttt gaagaaggga aattcacact gtgcgtttta gagtatgcaa gaagaatata
     3241 aataaataaa aatattctcc atggagaatt tgaacaaaa
//
