KEGG   Homo sapiens (human): 2571
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
Disease
H00606  Early infantile epileptic encephalopathy
H01097  Spastic quadriplegic cerebral palsy
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)
SSDB
Motif
Pfam: Pyridoxal_deC Aminotran_5 Beta_elim_lyase DegT_DnrJ_EryC1 SepSecS OKR_DC_1 Aminotran_1_2
Other DBs
NCBI-GeneID: 2571
NCBI-ProteinID: NP_000808
OMIM: 605363
HGNC: 4092
Ensembl: ENSG00000128683
UniProt: Q99259 Q8IVA8 A0A0S2Z3V5
Structure
Position
2:170813210..170861151
AA seq 594 aa
MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEK
SRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEV
VDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGV
RTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVFVLMEQITLKKMREIVGWS
SKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSHYSIKKAGAA
LGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIA
DICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKE
KGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRHVDIFKFWLMWKAKGTVGFENQI
NKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWYIPQSLRGVPDSPQRREKLHKVAP
KIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL
NT seq 1785 nt   +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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (8)   
   KEGG PATHWAY (7)   
   KEGG MODULE (1)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Drug (4)   
   KEGG DRUG (4)   
Chemical substance (9)   
   KEGG COMPOUND (9)   
Chemical reaction (5)   
   KEGG ENZYME (1)   
   KEGG REACTION (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (18)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (52)   
   RefSeq(nuc) (14)   
   GenBank (19)   
   EMBL (19)   
3D Structure (2)   
   PDB (2)   
Protein domain (7)   
   Pfam (7)   
All databases (126)   

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