KEGG   Homo sapiens (human): 2571
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<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 SepSecS DegT_DnrJ_EryC1 OKR_DC_1
Other DBs
NCBI-GeneID: 2571
NCBI-ProteinID: NP_000808
OMIM: 605363
HGNC: 4092
Ensembl: ENSG00000128683
Vega: OTTHUMG00000044175
Pharos: Q99259(Tbio)
UniProt: Q99259 Q8IVA8 A0A0S2Z3V5
LinkDB
Structure
PDB: 
3VP6 2OKJ

Position
2q31.1
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

KEGG   Homo sapiens (human): 2572
Entry
2572              CDS       T01001                                 

Gene name
GAD2, GAD65
Definition
(RefSeq) glutamate decarboxylase 2
  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
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
    2572 (GAD2)
  09105 Amino acid metabolism
   00250 Alanine, aspartate and glutamate metabolism
    2572 (GAD2)
  09106 Metabolism of other amino acids
   00410 beta-Alanine metabolism
    2572 (GAD2)
   00430 Taurine and hypotaurine metabolism
    2572 (GAD2)
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    2572 (GAD2)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04940 Type I diabetes mellitus
    2572 (GAD2)
Enzymes [BR:hsa01000]
 4. Lyases
  4.1  Carbon-carbon lyases
   4.1.1  Carboxy-lyases
    4.1.1.15  glutamate decarboxylase
     2572 (GAD2)
SSDB
Motif
Pfam: Pyridoxal_deC Aminotran_5 Beta_elim_lyase
Other DBs
NCBI-GeneID: 2572
NCBI-ProteinID: NP_000809
OMIM: 138275
HGNC: 4093
Ensembl: ENSG00000136750
Vega: OTTHUMG00000017836
Pharos: Q05329(Tbio)
UniProt: Q05329 Q5VZ30
LinkDB
Structure
PDB: 
2OKK

Position
10p12.1
AA seq 585 aa
MASPGSGFWSFGSEDGSGDSENPGTARAWCQVAQKFTGGIGNKLCALLYGDAEKPAESGG
SQPPRAAARKAACACDQKPCSCSKVDVNYAFLHATDLLPACDGERPTLAFLQDVMNILLQ
YVVKSFDRSTKVIDFHYPNELLQEYNWELADQPQNLEEILMHCQTTLKYAIKTGHPRYFN
QLSTGLDMVGLAADWLTSTANTNMFTYEIAPVFVLLEYVTLKKMREIIGWPGGSGDGIFS
PGGAISNMYAMMIARFKMFPEVKEKGMAALPRLIAFTSEHSHFSLKKGAAALGIGTDSVI
LIKCDERGKMIPSDLERRILEAKQKGFVPFLVSATAGTTVYGAFDPLLAVADICKKYKIW
MHVDAAWGGGLLMSRKHKWKLSGVERANSVTWNPHKMMGVPLQCSALLVREEGLMQNCNQ
MHASYLFQQDKHYDLSYDTGDKALQCGRHVDVFKLWLMWRAKGTTGFEAHVDKCLELAEY
LYNIIKNREGYEMVFDGKPQHTNVCFWYIPPSLRTLEDNEERMSRLSKVAPVIKARMMEY
GTTMVSYQPLGDKVNFFRMVISNPAATHQDIDFLIEEIERLGQDL
NT seq 1758 nt   +upstreamnt  +downstreamnt
atggcatctccgggctctggcttttggtctttcgggtcggaagatggctctggggattcc
gagaatcccggcacagcgcgagcctggtgccaagtggctcagaagttcacgggcggcatc
ggaaacaaactgtgcgccctgctctacggagacgccgagaagccggcggagagcggcggg
agccaacccccgcgggccgccgcccggaaggccgcctgcgcctgcgaccagaagccctgc
agctgctccaaagtggatgtcaactacgcgtttctccatgcaacagacctgctgccggcg
tgtgatggagaaaggcccactttggcgtttctgcaagatgttatgaacattttacttcag
tatgtggtgaaaagtttcgatagatcaaccaaagtgattgatttccattatcctaatgag
cttctccaagaatataattgggaattggcagaccaaccacaaaatttggaggaaattttg
atgcattgccaaacaactctaaaatatgcaattaaaacagggcatcctagatacttcaat
caactttctactggtttggatatggttggattagcagcagactggctgacatcaacagca
aatactaacatgttcacctatgaaattgctccagtatttgtgcttttggaatatgtcaca
ctaaagaaaatgagagaaatcattggctggccagggggctctggcgatgggatattttct
cccggtggcgccatatctaacatgtatgccatgatgatcgcacgctttaagatgttccca
gaagtcaaggagaaaggaatggctgctcttcccaggctcattgccttcacgtctgaacat
agtcatttttctctcaagaagggagctgcagccttagggattggaacagacagcgtgatt
ctgattaaatgtgatgagagagggaaaatgattccatctgatcttgaaagaaggattctt
gaagccaaacagaaagggtttgttcctttcctcgtgagtgccacagctggaaccaccgtg
tacggagcatttgaccccctcttagctgtcgctgacatttgcaaaaagtataagatctgg
atgcatgtggatgcagcttggggtgggggattactgatgtcccgaaaacacaagtggaaa
ctgagtggcgtggagagggccaactctgtgacgtggaatccacacaagatgatgggagtc
cctttgcagtgctctgctctcctggttagagaagagggattgatgcagaattgcaaccaa
atgcatgcctcctacctctttcagcaagataaacattatgacctgtcctatgacactgga
gacaaggccttacagtgcggacgccacgttgatgtttttaaactatggctgatgtggagg
gcaaaggggactaccgggtttgaagcgcatgttgataaatgtttggagttggcagagtat
ttatacaacatcataaaaaaccgagaaggatatgagatggtgtttgatgggaagcctcag
cacacaaatgtctgcttctggtacattcctccaagcttgcgtactctggaagacaatgaa
gagagaatgagtcgcctctcgaaggtggctccagtgattaaagccagaatgatggagtat
ggaaccacaatggtcagctaccaacccttgggagacaaggtcaatttcttccgcatggtc
atctcaaacccagcggcaactcaccaagacattgacttcctgattgaagaaatagaacgc
cttggacaagatttataa

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