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.

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

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 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
00260+2.1.1.2
00330+2.1.1.2
11735225_x_at
11751746_a_at
1552473_at
1552474_a_at
16866650
205354_at
2593
37602_at
3845176
3845177
3845178
3845179
3845180
3845181
3845182
3845183
3845184
3845185
3845186
3845188
3845189
3845190
3ORH
51806
8032214
A0A1W2PR36
A_23_P108143
A_24_P19228
AAC27668
AAD04781
AAF01461
AAH16760
AAH17936
AAP35682
AC005329
ACJ13666
AF010246
AF010247
AF010248
AF188893
AK289465
BAF82154
BC016760
BC017936
BT007034
CAA90035
CCDS12064
CCDS45897
CH471139
EAW69505
EAW69506
ENSG00000130005
ENSP00000252288
ENSP00000403536
ENST00000252288
ENST00000252288.7
ENST00000447102
ENST00000447102.8
EntrezGene:2593
EntrezGene:GAMT
EU794612
g7549759_3p_at
g7549759_3p_x_at
GAMT
GAMT-201
GAMT-202
GE60465
GE832090
GO:0000003
GO:0003674
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005737
GO:0005829
GO:0006600
GO:0006601
GO:0006936
GO:0007283
GO:0008150
GO:0008168
GO:0008757
GO:0009058
GO:0009887
GO:0016740
GO:0030731
GO:0032259
GO:0040007
GO:0040014
GO:0043226
GO:0044281
GO:0048856
HEL-S-20
HGNC:4136
HPA051806
Hs2.81131.2.S1_3p_at
ILMN_1756469
ILMN_1764355
ILMN_1794595
IPR016550
IPR026480
IPR029063
MIM:601240
MIM:612736
NM_000156
NM_138924
NP_000147
NP_620279
PH_hs_0035473
TC19001003.hg
UPI000012B0CC
UPI0000161182
V9HWB2
Z49878
Z49878_at
Participant Of
output
Inferred To
GAMT [cytosol] (Bos taurus)
GAMT [cytosol] (Canis familiaris)
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
PRO
Orphanet
PDB
HMDB Protein
Interactors (2)