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: -


Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviews
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:45,379,202-45,402,327)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGencodeHGNCLynxMalacards
PubMedWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GATM
Diseases sorted by gene-association score: cerebral creatine deficiency syndrome 3* (1590), l-arginine:glycine amidinotransferase deficiency* (519), cerebral creatine deficiency syndrome (23), cerebral creatine deficiency syndrome 2 (13), creatine deficiency syndromes (12), radiation cystitis (11), cerebral creatine deficiency syndrome 1 (10), uterine corpus cancer (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D003401 Creatine
  • C523799 MRK 003
  • D014635 Valproic Acid
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C023514 2,6-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C030370 2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone
  • C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid
  • C009505 4,4'-diaminodiphenylmethane
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 355.35 RPKM in Pancreas
Total median expression: 1458.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo 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

-  Other Names for This Gene
  Alternate Gene Symbols: BC039389, ENST00000458245.1, ENST00000458245.2, ENST00000458245.3, ENST00000458245.4, uc001zvd.1, uc001zvd.2, uc001zvd.3, uc001zvd.4
UCSC ID: ENST00000458245.5
RefSeq Accession: NM_001321015

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GATM:
creatine (Creatine Deficiency Disorders)
dystonia-ov (Hereditary Dystonia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.