GATM
entrez
2628
canonical
uniprot
P50440
canonical
ensembl
ENSG00000171766
resolver
ensp
ENSP00000379895
resolver
genesymbol
GATM
resolver
genesymbol_syn
AGAT
resolver
hgnc
HGNC:4175
resolver
uniprot
A0A140VK19
resolver
uniprot
B4DH99
resolver
uniprot
B4DPI3
resolver
uniprot
Q53EQ4
resolver
uniprot_entry
A0A140VK19_HUMAN
resolver
uniprot_entry
GATM_HUMAN
resolver
uniprot_sec
B4DH99
resolver
uniprot_sec
B4DPI3
resolver
uniprot_sec
Q53EQ4
resolver
amino_acid_sequence
MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD
uniprot
proteins
disease_involvement
DISEASE: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]: An autosomal recessive disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. {ECO:0000269|PubMed:11555793, ECO:0000269|PubMed:20682460, ECO:0000269|PubMed:22386973, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:23770102, ECO:0000269|PubMed:26490222, ECO:0000269|PubMed:27233232}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Fanconi renotubular syndrome 1 (FRTS1) [MIM:134600]: A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant. {ECO:0000269|PubMed:29654216}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.4.1
uniprot
proteins
function
FUNCTION: Transamidinase that catalyzes the transfer of the amidino group of L-arginine onto the amino moiety of acceptor metabolites such as glycine, beta-alanine, gamma-aminobutyric acid (GABA) and taurine yielding the corresponding guanidine derivatives (PubMed:16820567, PubMed:27233232, PubMed:36543883, PubMed:3800397). Catalyzes the rate-limiting step of creatine biosynthesis, namely the transfer of the amidino group from L-arginine to glycine to generate guanidinoacetate, which is then methylated by GAMT to form creatine. Provides creatine as a source for ATP generation in tissues with high energy demands, in particular skeletal muscle, heart and brain (Probable) (PubMed:27233232, PubMed:36543883, PubMed:3800397, PubMed:9266688). {ECO:0000269|PubMed:16820567, ECO:0000269|PubMed:27233232, ECO:0000269|PubMed:36543883, ECO:0000269|PubMed:3800397, ECO:0000269|PubMed:9266688, ECO:0000305|PubMed:16820567}.
uniprot
proteins
mass_dalton
48455
uniprot
proteins
mutagenesis
MUTAGEN 170; /note="D->N: Complete loss of activity."; /evidence="ECO:0000269|PubMed:9266688"; MUTAGEN 233; /note="E->K: Complete loss of activity; when associated with S-407."; /evidence="ECO:0000269|PubMed:9266688"; MUTAGEN 254; /note="D->N: Significantly reduced activity."; /evidence="ECO:0000269|PubMed:9266688"; MUTAGEN 303; /note="H->V: Complete loss of activity."; /evidence="ECO:0000269|PubMed:9266688"; MUTAGEN 305; /note="D->A: Complete loss of activity."; /evidence="ECO:0000269|PubMed:9266688"; MUTAGEN 322; /note="R->E: Significantly reduced activity."; /evidence="ECO:0000269|PubMed:9266688"; MUTAGEN 355; /note="S->A: Significantly reduced activity."; /evidence="ECO:0000269|PubMed:9266688"; MUTAGEN 407; /note="C->S: Complete loss of activity; when associated with K-233."; /evidence="ECO:0000269|PubMed:9266688"; MUTAGEN 410; /note="C->A: No effect on activity."; /evidence="ECO:0000269|PubMed:9266688
uniprot
proteins
pathway_participation
PATHWAY: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2. {ECO:0000305|PubMed:16820567, ECO:0000305|PubMed:36543883, ECO:0000305|PubMed:3800397, ECO:0000305|PubMed:9266688}.
uniprot
proteins
protein_family
Amidinotransferase family
uniprot
proteins
pubmed
11555793
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16125225
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
16614068
uniprot
proteins
pubmed
16820567
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20682460
uniprot
proteins
pubmed
22386973
uniprot
proteins
pubmed
23660394
uniprot
proteins
pubmed
23770102
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26490222
uniprot
proteins
pubmed
27233232
uniprot
proteins
pubmed
29654216
uniprot
proteins
pubmed
36543883
uniprot
proteins
pubmed
3800397
uniprot
proteins
pubmed
8313955
uniprot
proteins
pubmed
9148748
uniprot
proteins
pubmed
9165070
uniprot
proteins
pubmed
9218780
uniprot
proteins
pubmed
9266688
uniprot
proteins
pubmed
9915841
uniprot
proteins
sequence_length
423
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm.
uniprot
proteins