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
hsa00260  Glycine, serine and threonine metabolism
hsa00330  Arginine and proline metabolism
hsa01100  Metabolic pathways
Module
hsa_M00047  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
Pfam: Methyltransf_25
Motif
Other DBs
NCBI-GeneID: 2593
NCBI-ProteinID: NP_000147
OMIM: 601240
HGNC: 4136
Ensembl: ENSG00000130005
Vega: OTTHUMG00000180095
Pharos: Q14353(Tbio)
UniProt: Q14353 V9HWB2
Structure
PDB: 

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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