KEGG   Homo sapiens (human): 2571Help
Entry
2571              CDS       T01001                                 

Gene name
GAD1, CPSQ1, GAD, SCP
Definition
(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
H01097  Spastic quadriplegic cerebral palsy
Drug target
Valproic acid (DG00849): D00304 D00399 D00710 D08667
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Carbohydrate metabolism
   00650 Butanoate metabolism
    2571 (GAD1)
  Amino acid metabolism
   00250 Alanine, aspartate and glutamate metabolism
    2571 (GAD1)
  Metabolism of other amino acids
   00410 beta-Alanine metabolism
    2571 (GAD1)
   00430 Taurine and hypotaurine metabolism
    2571 (GAD1)
 Organismal Systems
  Nervous system
   04727 GABAergic synapse
    2571 (GAD1)
 Human Diseases
  Endocrine and metabolic diseases
   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 OrthologParalogGFIT
Motif
Pfam: Pyridoxal_deC Aminotran_5 Beta_elim_lyase SepSecS OKR_DC_1 DegT_DnrJ_EryC1
Motif
Other DBs
NCBI-GeneID: 2571
NCBI-ProteinID: NP_000808
OMIM: 605363
HGNC: 4092
Ensembl: ENSG00000128683
Vega: OTTHUMG00000044175
Pharos: Q99259(Tbio)
UniProt: Q99259 A0A0S2Z3V5 Q8IVA8
Structure
PDB: 

Jmol
Position
2q31.1
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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