KEGG   Homo sapiens (human): 2593Help
Entry
2593              CDS       T01001                                 

Gene name
GAMT, CCDS2, HEL-S-20, PIG2, TP53I2
Definition
(RefSeq) guanidinoacetate N-methyltransferase
  KO
K00542  
guanidinoacetate N-methyltransferase [EC:2.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
Glycine, serine and threonine metabolism
Arginine and proline metabolism
Metabolic pathways
Module
Creatine pathway
Disease
H00834  
Guanidinoacetate methyltransferase (GAMT) deficiency
H00849  
Creatine deficiency syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Amino acid metabolism
   00260 Glycine, serine and threonine metabolism
    2593 (GAMT)
   00330 Arginine and proline metabolism
    2593 (GAMT)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.2  guanidinoacetate N-methyltransferase
     2593 (GAMT)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
Pharos: 
Q14353(Tbio)
UniProt: 
Structure
PDB: 

Jmol
Position
19p13.3
AA seq 236 aa AA seqDB search
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSK
GGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDV
APTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKS
KYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG
NT seq 711 nt NT seq  +upstreamnt  +downstreamnt
atgagcgcccccagcgcgacccccatcttcgcgcccggcgagaactgcagccccgcgtgg
ggggcggcgcccgcggcctacgacgcagcggacacgcacctgcgcatcctgggcaagccg
gtgatggagcgctgggagaccccctatatgcacgcgctggccgccgccgcctcctccaaa
gggggccgggtcctggaggtgggctttggcatggccatcgcagcgtcaaaggtgcaggag
gcgcccattgatgagcattggatcatcgagtgcaatgacggcgtcttccagcggctccgg
gactgggccccacggcagacacacaaggtcatccccttgaaaggcctgtgggaggatgtg
gcacccaccctgcctgacggtcactttgatgggatcctgtacgacacgtacccactctcg
gaggagacctggcacacacaccagttcaacttcatcaagaaccacgcctttcgcctgctg
aagccggggggcgtcctcacctactgcaacctcacctcctggggggagctgatgaagtcc
aagtactcagacatcaccatcatgtttgaggagacgcaggtgcccgcgctgctggaggcc
ggcttccggagggagaacatccgtacggaggtgatggcgctggtcccaccggccgactgc
cgctactacgccttcccacagatgatcacgcccctggtgaccaaaggctga
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