Homo sapiens (human): 2571 Help Entry 2571              CDS       T01001                                  Symbol GAD1, CPSQ1, DEE89, GAD, SCP Name (RefSeq) glutamate decarboxylase 1   KO K01580   glutamate decarboxylase [EC:4.1.1.15] Organism hsa  Homo sapiens (human) Pathway hsa00250   Alanine, aspartate and glutamate metabolism hsa00410   beta-Alanine metabolism hsa00430   Taurine and hypotaurine metabolism hsa00650   Butanoate metabolism hsa01100   Metabolic pathways hsa04727   GABAergic synapse hsa04940   Type I diabetes mellitus Module hsa_M00027   GABA (gamma-Aminobutyrate) shunt Network nt06544  Neuroactive ligand signaling   Element N01893   Glutamine metabolism and transport in neuron Disease H00606   Early infantile epileptic encephalopathy Drug target Valproic acid (DG00849):  D00304<US> D00399<US> D00710<JP/US> D08667 Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09101 Carbohydrate metabolism    00650 Butanoate metabolism     2571 (GAD1)   09105 Amino acid metabolism    00250 Alanine, aspartate and glutamate metabolism     2571 (GAD1)   09106 Metabolism of other amino acids    00410 beta-Alanine metabolism     2571 (GAD1)    00430 Taurine and hypotaurine metabolism     2571 (GAD1)  09150 Organismal Systems   09156 Nervous system    04727 GABAergic synapse     2571 (GAD1)  09160 Human Diseases   09167 Endocrine and metabolic disease    04940 Type I diabetes mellitus     2571 (GAD1) Enzymes [BR:hsa01000]  4. Lyases   4.1  Carbon-carbon lyases    4.1.1  Carboxy-lyases     4.1.1.15  glutamate decarboxylase      2571 (GAD1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Pyridoxal_deC Aminotran_5 Beta_elim_lyase DegT_DnrJ_EryC1 SepSecS OKR_DC_1 Aminotran_1_2 Motif Other DBs NCBI-GeneID:  2571 NCBI-ProteinID:  NP_000808 OMIM:  605363 HGNC:  4092 Ensembl:  ENSG00000128683 UniProt:  Q99259 Q8IVA8 A0A0S2Z3V5 Structure PDBPDBj LinkDB All DBs Position 2:170813210..170861151 Genome browser AA seq 594 aa AA seqDB search MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEK SRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEV VDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGV RTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVFVLMEQITLKKMREIVGWS SKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSHYSIKKAGAA LGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIA DICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKE KGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRHVDIFKFWLMWKAKGTVGFENQI NKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWYIPQSLRGVPDSPQRREKLHKVAP KIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL NT seq 1785 nt NT seq  +upstreamnt  +downstreamnt atggcgtcttcgaccccatcttcgtccgcaacctcctcgaacgcgggagcggaccccaat accactaacctgcgccccacaacgtacgatacctggtgcggcgtggcccatggatgcacc agaaaactggggctcaagatctgcggcttcttgcaaaggaccaacagcctggaagagaag agtcgccttgtgagtgccttcaaggagaggcaatcctccaagaacctgctttcctgtgaa aacagcgaccgggatgcccgcttccggcgcacagagactgacttctctaatctgtttgct agagatctgcttccggctaagaacggtgaggagcaaaccgtgcaattcctcctggaagtg gtggacatactcctcaactatgtccgcaagacatttgatcgctccaccaaggtgctggac tttcatcacccacaccagttgctggaaggcatggagggcttcaacttggagctctctgac caccccgagtccctggagcagatcctggttgactgcagagacaccttgaagtatggggtt cgcacaggtcatcctcgatttttcaaccagctctccactggattggatattattggccta gctggagaatggctgacatcaacggccaataccaacatgtttacatatgaaattgcacca gtgtttgtcctcatggaacaaataacacttaagaagatgagagagatagttggatggtca agtaaagatggtgatgggatattttctcctgggggcgccatatccaacatgtacagcatc atggctgctcgctacaagtacttcccggaagttaagacaaagggcatggcggctgtgcct aaactggtcctcttcacctcagaacagagtcactattccataaagaaagctggggctgca cttggctttggaactgacaatgtgattttgataaagtgcaatgaaagggggaaaataatt ccagctgattttgaggcaaaaattcttgaagccaaacagaagggatatgttcccttttat gtcaatgcaactgctggcacgactgtttatggagcttttgatccgatacaagagattgca gatatatgtgagaaatataacctttggttgcatgtcgatgctgcctggggaggtgggctg ctcatgtccaggaagcaccgccataaactcaacggcatagaaagggccaactcagtcacc tggaaccctcacaagatgatgggcgtgctgttgcagtgctctgccattctcgtcaaggaa aagggtatactccaaggatgcaaccagatgtgtgcaggatacctcttccagccagacaag cagtatgatgtctcctacgacaccggggacaaggcaattcagtgtggccgccacgtggat atcttcaagttctggctgatgtggaaagcaaagggcacagtgggatttgaaaaccagatc aacaaatgcctggaactggctgaatacctctatgccaagattaaaaacagagaagaattt gagatggttttcaatggcgagcctgagcacacaaacgtctgtttttggtatattccacaa agcctcaggggtgtgccagacagccctcaacgacgggaaaagctacacaaggtggctcca aaaatcaaagccctgatgatggagtcaggtacgaccatggttggctaccagccccaaggg gacaaggccaacttcttccggatggtcatctccaacccagccgctacccagtctgacatt gacttcctcattgaggagatagaaagactgggccaggatctgtaa

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