Homo sapiens (human): 2593
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Entry
2593 CDS
T01001
Symbol
GAMT, CCDS2, HEL-S-20, PIG2, TP53I2
Name
(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
Network
nt06033
Glycine, serine and arginine metabolism
Element
N01612
Creatine pathway
Disease
H00834
Guanidinoacetate methyltransferase deficiency
H00849
Cerebral creatine deficiency syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09105 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
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Methyltransf_25
Motif
Other DBs
NCBI-GeneID:
2593
NCBI-ProteinID:
NP_000147
OMIM:
601240
HGNC:
4136
Ensembl:
ENSG00000130005
UniProt:
Q14353
V9HWB2
Structure
PDB
LinkDB
All DBs
Position
19:complement(1397026..1401542)
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AA seq
236 aa
AA seq
DB search
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSK
GGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDV
APTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKS
KYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG
NT seq
711 nt
NT seq
+upstream
nt +downstream
nt
atgagcgcccccagcgcgacccccatcttcgcgcccggcgagaactgcagccccgcgtgg
ggggcggcgcccgcggcctacgacgcagcggacacgcacctgcgcatcctgggcaagccg
gtgatggagcgctgggagaccccctatatgcacgcgctggccgccgccgcctcctccaaa
gggggccgggtcctggaggtgggctttggcatggccatcgcagcgtcaaaggtgcaggag
gcgcccattgatgagcattggatcatcgagtgcaatgacggcgtcttccagcggctccgg
gactgggccccacggcagacacacaaggtcatccccttgaaaggcctgtgggaggatgtg
gcacccaccctgcctgacggtcactttgatgggatcctgtacgacacgtacccactctcg
gaggagacctggcacacacaccagttcaacttcatcaagaaccacgcctttcgcctgctg
aagccggggggcgtcctcacctactgcaacctcacctcctggggggagctgatgaagtcc
aagtactcagacatcaccatcatgtttgaggagacgcaggtgcccgcgctgctggaggcc
ggcttccggagggagaacatccgtacggaggtgatggcgctggtcccaccggccgactgc
cgctactacgccttcccacagatgatcacgcccctggtgaccaaaggctga
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integrated database retrieval system