Human Gene GAMT (ENST00000252288.8_8) from GENCODE V47lift37
  Description: guanidinoacetate N-methyltransferase, transcript variant 1 (from RefSeq NM_000156.6)
Gencode Transcript: ENST00000252288.8_8
Gencode Gene: ENSG00000130005.13_9
Transcript (Including UTRs)
   Position: hg19 chr19:1,397,025-1,401,541 Size: 4,517 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr19:1,397,358-1,401,475 Size: 4,118 Coding Exon Count: 6 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:1,397,025-1,401,541)mRNA (may differ from genome)Protein (236 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  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: GAMT
Diseases sorted by gene-association score: cerebral creatine deficiency syndrome 2* (1691), cerebral creatine deficiency syndrome (41), creatine deficiency syndromes (14), cerebral creatine deficiency syndrome 3 (13), cerebral creatine deficiency syndrome 1 (13), movement disease (7), hypotonia (7), amino acid metabolic disorder (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 148.65 RPKM in Liver
Total median expression: 991.30 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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.7066-0.571 Picture PostScript Text
3' UTR -141.90333-0.426 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  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 orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Descriptions from all associated GenBank mRNAs
  JD030025 - Sequence 11049 from Patent EP1572962.
JD025261 - Sequence 6285 from Patent EP1572962.
BC017936 - Homo sapiens guanidinoacetate N-methyltransferase, mRNA (cDNA clone MGC:24023 IMAGE:4246521), complete cds.
BC016760 - Homo sapiens guanidinoacetate N-methyltransferase, mRNA (cDNA clone MGC:1854 IMAGE:2989341), complete cds.
AK297487 - Homo sapiens cDNA FLJ52994 complete cds, highly similar to Guanidinoacetate N-methyltransferase (EC2.1.1.2).
Z49878 - H.sapiens mRNA for guanidinoacetate N-methyltransferase.
JD387870 - Sequence 368894 from Patent EP1572962.
JD527858 - Sequence 508882 from Patent EP1572962.
JD022801 - Sequence 3825 from Patent EP1572962.
JD028174 - Sequence 9198 from Patent EP1572962.
JD395273 - Sequence 376297 from Patent EP1572962.
JD079390 - Sequence 60414 from Patent EP1572962.
JD394952 - Sequence 375976 from Patent EP1572962.
CU677713 - Synthetic construct Homo sapiens gateway clone IMAGE:100023242 5' read GAMT mRNA.
KJ891220 - Synthetic construct Homo sapiens clone ccsbBroadEn_00614 GAMT gene, encodes complete protein.
KR710231 - Synthetic construct Homo sapiens clone CCSBHm_00010797 GAMT (GAMT) mRNA, encodes complete protein.
KR710232 - Synthetic construct Homo sapiens clone CCSBHm_00010799 GAMT (GAMT) mRNA, encodes complete protein.
KR710233 - Synthetic construct Homo sapiens clone CCSBHm_00010802 GAMT (GAMT) mRNA, encodes complete protein.
KR710234 - Synthetic construct Homo sapiens clone CCSBHm_00010807 GAMT (GAMT) mRNA, encodes complete protein.
BT007034 - Homo sapiens guanidinoacetate N-methyltransferase mRNA, complete cds.
EU794612 - Homo sapiens epididymis secretory protein Li 20 (HEL-S-20) mRNA, complete cds.
AK289465 - Homo sapiens cDNA FLJ76206 complete cds, highly similar to Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 2, mRNA.
AF086508 - Homo sapiens full length insert cDNA clone ZE02H09.
AB590862 - Synthetic construct DNA, clone: pFN21AE1763, Homo sapiens GAMT gene for guanidinoacetate N-methyltransferase, without stop codon, in Flexi system.
JD021576 - Sequence 2600 from Patent EP1572962.
JD031196 - Sequence 12220 from Patent EP1572962.
JD523225 - Sequence 504249 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
GLYCGREAT-PWY - creatine biosynthesis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000252288.1, ENST00000252288.2, ENST00000252288.3, ENST00000252288.4, ENST00000252288.5, ENST00000252288.6, ENST00000252288.7, GAMT , hCG_21569 , HEL-S-20 , NM_000156, uc317fgr.1, uc317fgr.2, V9HWB2, V9HWB2_HUMAN
UCSC ID: ENST00000252288.8_8
RefSeq Accession: NM_000156.6

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

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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