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 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		PIG2, TP53I2
Human Chr (Location)		19p13.3; chr19:1397025-1401569 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human GAMT

Alleles and phenotypes

All alleles(6) : Targeted(2) Gene trapped(4)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	creatine biosynthetic process, metabolic process, ...
Component	cell projection
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 Type	Results
RNA in situ	8

cDNA source data(70)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(73) Genomic(1) cDNA(70) Primer pair(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000000008 (Evidence)
Ensembl Gene Model	ENSMUSG00000020150 (Evidence)
Entrez Gene	14431 (Evidence)
UniGene	7329
DFCI	TC1578545, TC1683192
DoTS	DT.110619527, DT.534819, DT.534820, DT.97398434
NIA Mouse Gene Index	U032004
EC	2.1.1.2
Consensus CDS Project	CCDS35976.1
International Mouse Knockout Project Status	Gamt

Sequences

Length	Strain/Species
genomic	OTTMUSG00000000008	VEGA Gene Model | MGI Sequence Detail	2862	C57BL/6J
transcript	OTTMUST00000045772	VEGA | MGI Sequence Detail	979	Not Applicable
polypeptide	OTTMUSP00000020612	VEGA | MGI Sequence Detail	252	Not Applicable

All sequences(37) RefSeq(2) UniProt(1)

Polymorphisms

PCR(1) : SNPs(2 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191142 Choe CU, et al., L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. Hum Mol Genet. 2013 Jan 1;22(1):110-23
All references(42)

Other accession IDs

MGI:2143491