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GATM (glycine amidinotransferase)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2628
Gene nameGene Name - the full gene name approved by the HGNC.
Glycine amidinotransferase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GATM
SynonymsGene synonyms aliases
AGAT, AT, CCDS3, FRTS, FRTS1, RFS
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, t
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs1346268 T>A,C,G Drug-response Genic upstream transcript variant, intron variant
rs80338737 C>A,T Pathogenic Missense variant, coding sequence variant, stop gained
rs80338738 C>A Pathogenic Splice donor variant
rs148564534 G>A Benign, likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs151231277 A>G Benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT021061 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT021061 hsa-miR-155-5p Reporter assay;Other 18668040
MIRT024805 hsa-miR-215-5p Microarray 19074876
MIRT026928 hsa-miR-192-5p Microarray 19074876
MIRT657944 hsa-miR-3184-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005758 Component Mitochondrial intermembrane space IDA 9218780
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P50440
Protein name Glycine amidinotransferase, mitochondrial (EC 2.1.4.1) (L-arginine:glycine amidinotransferase) (Transamidinase)
Protein 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 derivative
PDB 1JDW , 1JDX , 2JDW , 2JDX , 3JDW , 4JDW , 5JDW , 6JDW , 7JDW , 8JDW , 9JDW
Family and domains
Sequence 
MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPL
PKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHL
KKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEII
EAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAA
QGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPN
PMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSM
NVLMLDEKRVMVDANEVPIQKMFEKLGITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQS
YLD
Sequence length 423
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Glycine, serine and threonine metabolism
Arginine and proline metabolism
Metabolic pathways 		  Creatine metabolism
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arginine-glycine amidinotransferase deficiency Arginine:Glycine Amidinotransferase Deficiency rs80338737, rs80338738, rs397515542, rs397514708, rs397514709, rs775933965, rs1566842679, rs1244824806 28808834, 8473283, 20682460, 23129796, 11555793, 26490222, 10762163, 23770102, 27233232, 22386973, 23660394, 20625172, 29654216, 23026748, 17789505, 13192118, 27604308
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 16316942
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Unknown
Disease name Disease term dbSNP ID References
Anaplastic carcinoma Anaplastic carcinoma 16316942
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 16820567
Creatine deficiency Creatine deficiency, X-linked rs384573, rs782028471, rs150207268, rs376038235, rs781925657, rs782388832, rs782114947, rs140601882, rs1131691726, rs1238996324, rs374163604, rs782676733, rs1236176576, rs1557043775, rs1198790754, rs1181103233, rs1261794545, rs1233444890, rs782598816, rs782000377, rs782808736, rs782416756, rs201838389, rs782748657, rs1557044433, rs199937648, rs202136567, rs782764159, rs781814962, rs782128137, rs782551106, rs782488606, rs782481058, rs1557045747, rs1160275875
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741 16820567

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