Human Gene GATM (ENST00000458245.5) from GENCODE V44
Description: glycine amidinotransferase (from HGNC GATM) RefSeq Summary (NM_001321015): 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, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000458245.5 Gencode Gene: ENSG00000171766.17 Transcript (Including UTRs) Position: hg38 chr15:45,379,202-45,402,327 Size: 23,126 Total Exon Count: 5 Strand: -
Press "+" in the title bar above to open this section.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
KM576744 - Homo sapiens clone BC039389-GATM_B3-G3 mRNA sequence. KM576745 - Homo sapiens clone BC039389-GATM_B3-G2 mRNA sequence. BC039389 - Homo sapiens cDNA clone IMAGE:5298801.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00260 - Glycine, serine and threonine metabolism hsa00330 - Arginine and proline metabolism hsa01100 - Metabolic pathways