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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
Expand all
Gene expression (Transcription) (Homo sapiens)
RNA Polymerase II Transcription (Homo sapiens)
Generic Transcription Pathway (Homo sapiens)
Transcriptional Regulation by MECP2 (Homo sapiens)
GAMT gene expression is stimulated by MECP2 (Homo sapiens)
GAMT [cytosol] (Homo sapiens)
Metabolism (Homo sapiens)
Metabolism of amino acids and derivatives (Homo sapiens)
Creatine metabolism (Homo sapiens)
guanidinoacetate + S-adenosylmethionine => creatine + S-adenosylhomocysteine (Homo sapiens)
GAMT [cytosol] (Homo sapiens)
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
RefSeq:NM_000156.5 GAMT
RefSeq:NM_138924.2 GAMT
Other Identifiers
0003170041
0003990270
0005130035
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
8032214
A_23_P108143
A_24_P19228
GE60465
GE832090
GO:0000003
GO:0003674
GO:0005515
GO:0005575
GO:0005622
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
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
Participant Of
output
GAMT gene expression is stimulated by MECP2
Inferred To
rmt2 [cytosol] (Schizosaccharomyces pombe)
Gamt [cytosol] (Mus musculus)
Gamt [cytosol] (Rattus norvegicus)
RMT2 [cytosol] (Saccharomyces cerevisiae)
GAMT [cytosol] (Bos taurus)
GAMT [cytosol] (Gallus gallus)
GAMT [cytosol] (Sus scrofa)
gamt [cytosol] (Danio rerio)
gamt [cytosol] (Xenopus tropicalis)
SBNO2 [cytosol] (Canis familiaris)
Cross References
RefSeq
NP_620279.1
,
NP_000147.1
OpenTargets
ENSG00000130005
HPA
ENSG00000130005-GAMT
GeneCards
Q14353
Ensembl
ENSP00000403536
,
ENST00000252288
,
ENSP00000252288
,
ENST00000447102
,
ENSG00000130005
PRO
Q14353
Orphanet
16098
HMDB Protein
HMDBP00426
PDB
3ORH
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9HCM9-2 TRIM39
0.556
5
UniProt:Q969Q5 RAB24
4
RAB24 [cytosol]
(R-HSA-8873717)
GGC-RAB24 [cytosol]
(R-HSA-8873765)
RAB24 [plasma membrane]
(R-HSA-6804986)
RAB24 [secretory granule membrane]
(R-HSA-6804977)
0.556
3
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