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: 

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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (8)   
   KEGG PATHWAY (7)   
   KEGG MODULE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   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 (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (12)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (46)   
   RefSeq(nuc) (8)   
   GenBank (19)   
   EMBL (19)   
Protein domain (6)   
   Pfam (6)   
All databases (113)   

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