Search by BoMiProt ID - Bomi6162


Primary Information

BoMiProt ID Bomi6162
Protein Name Guanidinoacetate N-methyltransferase
Organism Bos taurus
Uniprot IdQ2TBQ3
Milk FractionExosomes
Ref Sequence Id NP_001033633.1
Aminoacid Length 236
Molecular Weight 26610
Fasta Sequence https://www.uniprot.org/uniprot/Q2TBQ3.fasta
Gene Name GAMT
Gene Id 515270
Protein Existence Status Reviewed

Secondary Information

Presence in other biological fluids/tissue/cells liver
Protein Function Guanidinoacetate N-methyltransferase (GAMT) is one of the essential enzyme in creatine (Cr) biosynthesis.
PTMs N-acetylation at Ser
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Phosphorylation
NA
Predicted Disorder Regions (1-29)
DisProt Annotation
TM Helix Prediction No TM helices
Additional Comments Human GAMT deficiency is associated with severe epilepsy that does not improve with creatine-supplementation.
Bibliography 1.Aksentijević D, Zervou S, Eykyn TR, McAndrew DJ, Wallis J, Schneider JE, Neubauer S, Lygate CA. Age-Dependent Decline in Cardiac Function in Guanidinoacetate-N-Methyltransferase Knockout Mice. Front Physiol. 2020 Jan 21;10:1535. doi: 10.3389/fphys.2019.01535. PMID: 32038270; PMCID: PMC6985570. 2.Schulze A. (2003). Creatine deficiency syndromes. Mol. Cell. Biochem. 244 143–150. 10.1007/978-1-4615-0247-0_22