GAMT [cytosol]

Stable Identifier
R-HSA-71276
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
guanidinoacetate methyltransferase, guanidinoacetate N-methyltransferase, S-adenosyl-L-methionine:guanidinoacetate N-methyltransferase
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
8651275 Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.

Isbrandt, D, Stockler, S, von Figura, K, Hanefeld, F, Schmidt, B

Am J Hum Genet 1996
External Reference Information
External Reference
UniProt:Q14353 GAMT
Gene Names
GAMT
Chain
initiator methionine:1, chain:2-236
Reference Genes
BioGPS Gene:2593 GAMT
COSMIC (genes):GAMT GAMT
CTD Gene:2593 GAMT
dbSNP Gene:2593 GAMT
ENSEMBL:ENSG00000130005.13 GAMT
HGNC:4136 GAMT
KEGG Gene (Homo sapiens):2593 GAMT
Monarch:2593 GAMT
NCBI Gene:2593 GAMT
OMIM:601240 GAMT
UCSC:Q14353 GAMT
Reference Transcript
Other Identifiers
0003170041
0003990270
0005130035
11735225_x_at
11751746_a_at
1552473_PM_at
1552473_at
1552474_PM_a_at
1552474_a_at
16866650
205354_PM_at
205354_at
2593
37602_at
3845176
3845177
3845178
3845179
3845180
3845181
3845182
3845183
3845184
3845185
3845186
3845188
3845189
3845190
8032214
A_23_P108143
A_24_P19228
GE60465
GE832090
GO:0003012
GO:0005515
GO:0005622
GO:0005634
GO:0005737
GO:0005829
GO:0006575
GO:0006600
GO:0006601
GO:0006936
GO:0007283
GO:0008168
GO:0008757
GO:0009887
GO:0016740
GO:0022414
GO:0030731
GO:0032259
GO:0040014
GO:0043226
GO:0048856
HMNXSV003017060
HMNXSV003036065
Hs2.81131.2.S1_3p_at
ILMN_1756469
ILMN_1764355
ILMN_1794595
PH_hs_0035473
TC19001003.hg
Z49878_at
g7549759_3p_at
g7549759_3p_x_at
Participates
as an output of
Inferred To
GAMT [cytosol] (Bos taurus)
GAMT [cytosol] (Danio rerio)
GAMT [cytosol] (Gallus gallus)
GAMT [cytosol] (Mus musculus)
GAMT [cytosol] (Rattus norvegicus)
GAMT [cytosol] (Saccharomyces cerevisiae)
GAMT [cytosol] (Schizosaccharomyces pombe)
GAMT [cytosol] (Sus scrofa)
GAMT [cytosol] (Xenopus tropicalis)
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
Interactors (2)
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