About   Help   FAQ
Gamt
Gene Detail
 Symbol
Name
ID
Gamt
guanidinoacetate methyltransferase
MGI:1098221
Synonyms Spintz1
Feature Type protein coding gene
Genetic Map
Chromosome 10
39.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr10:80258151-80261012 bp, - strand
From VEGA annotation of GRCm38

  2862 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32089  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: guanidinoacetate N-methyltransferase
Gene Tree: Gamt

Human
homologs
Human Homolog GAMT, guanidinoacetate N-methyltransferase
NCBI Gene ID 2593
neXtProt AC  NX_Q14353
Human Synonyms  CCDS2, HEL-S-20, PIG2, TP53I2
Human Chr (Location)  19p13.3; chr19:1397026-1401570 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human GAMT
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice display increased postnatal lethality; reduced body weight, muscle tension, and creatine concentrations; infertility with impaired spermatogenesis.
 
Human Diseases Modeled Using Mouse Gamt (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Gamt interacts with 31 markers (Mir25, Mir34a, Mir34b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process creatine biosynthetic process, methylation, ...
Component cell projection, extracellular vesicular exosome
Function guanidinoacetate N-methyltransferase activity, methyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (8)    Tissues (1)    Images (8)
Theiler Stages: 23
Assay TypeResults
RNA in situ 8
cDNA source data(70)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(73) Genomic(1) cDNA(70) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000000008 (Evidence)
Ensembl Gene ModelENSMUSG00000020150 (Evidence)
Entrez Gene14431 (Evidence)
UniGene7329
DFCITC1578545, TC1683192
DoTSDT.110619527, DT.534819, DT.534820, DT.97398434
NIA Mouse Gene IndexU032004
EC2.1.1.2
Consensus CDS ProjectCCDS35976.1
International Mouse Knockout Project StatusGamt
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000008 VEGA Gene Model | MGI Sequence Detail 2862 C57BL/6J ±  kb
transcript OTTMUST00000045772 VEGA | MGI Sequence Detail 979 Not Applicable 
polypeptide OTTMUSP00000020612 VEGA | MGI Sequence Detail 252 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(8) UniProt(1)
Polymorphisms PCR(1) : SNPs within 2kb(3 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026480 Arginine N-methyltransferase 2-like domain
InterPro IPR016550 Guanidinoacetate N-methyltransferase
Protein Ontology PR:000007835 guanidinoacetate N-methyltransferase
References (Earliest) J:43806 Lee H, et al., Guanidinoacetate methyltransferase in the mouse: extensive expression in Sertoli cells of testis and in microvilli of caput epididymis. Biol Reprod. 1994 Jan;50(1):152-62
(Latest) J:202278 Branovets J, et al., Unchanged mitochondrial organization and compartmentation of high-energy phosphates in creatine-deficient GAMT-/- mouse hearts. Am J Physiol Heart Circ Physiol. 2013 Aug 15;305(4):H506-20
All references(44)
Disease annotation references (1)
Other
accession IDs
MGI:2143491

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/09/2014
MGI 5.19
The Jackson Laboratory