Gamt guanidinoacetate N-methyltransferase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gamtprovided by RGD
Official Full Name: guanidinoacetate N-methyltransferaseprovided by RGD
Primary source: RGD:2659
See related: EnsemblRapid:ENSRNOG00000024577 AllianceGenome:RGD:2659
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: GMT
Summary: Enables guanidinoacetate N-methyltransferase activity and identical protein binding activity. Involved in S-adenosylmethionine metabolic process; carboxylic acid metabolic process; and embryonic liver development. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in amino acid metabolic disorder and guanidinoacetate methyltransferase deficiency. Orthologous to human GAMT (guanidinoacetate N-methyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Liver (RPKM 1351.4), Kidney (RPKM 300.0) and 6 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 7q11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	7	NC_086025.1 (10099267..10102083)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	7	NC_051342.1 (9448590..9451413)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	7	NC_005106.4 (12314848..12317998)

Chromosome 7 - NC_086025.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

3D organotypic brain cell cultures showed that GAMT deficiency with significant residual enzymatic activity does not lead to creatine deficiency but generates sufficient guanidinoacetate to irreversibly affect developing brain
Title: Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development.
x-ray crstallography studies explain why the Y136F mutant enzyme retains considerable catalytic activity while the Y136V mutant enzyme loses the catalytic activity.
Title: Monoclinic guanidinoacetate methyltransferase and gadolinium ion-binding characteristics.
On the basis of the crystal structure of GAMT-S-adenosyl-L-homocysteine (SAH)+ guanidinoacetate (GAA) and the model structure of GAMT-S-adenosylmethionine (SAM)+ GAA, a possible catalytic mechanism of the methyl transfer reaction of GAMT is proposed.
Title: Catalytic mechanism of guanidinoacetate methyltransferase: crystal structures of guanidinoacetate methyltransferase ternary complexes.
results suggest that de novo synthesis of creatine(Cr) by AGAT and GAMT, as well as cellular Cr uptake by CT1, are essential during embryonic development
Title: Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1.
Crystal structure of guanidinoacetate methyltransferase from rat liver
Title: Crystal structure of guanidinoacetate methyltransferase from rat liver: a model structure of protein arginine methyltransferase.

Submit: New GeneRIF Correction

General gene information

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Markers

Gamt (e-PCR), detects polymorphism
- UniSTS:143164

RH135445 (e-PCR)
- UniSTS:218722

PMC311070P1 (e-PCR)
- UniSTS:272891

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables S-adenosylmethionine-dependent methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables guanidinoacetate N-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanidinoacetate N-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables guanidinoacetate N-methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables guanidinoacetate N-methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables guanidinoacetate N-methyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables guanidinoacetate N-methyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in S-adenosylhomocysteine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in S-adenosylmethionine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in animal organ morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within animal organ morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in creatine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in creatine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in creatine biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within creatine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in creatine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in creatine biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in embryonic liver development	IEP Inferred from Expression Pattern more info	PubMed
involved_in methylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of multicellular organism growth	ISO Inferred from Sequence Orthology more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spermatogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: guanidinoacetate N-methyltransferase

Names: guanidinoacetate methyltransferase

NP_001389142.1

EC 2.1.1.2

NP_036925.2

EC 2.1.1.2

XP_038934381.1

EC 2.1.1.2

XP_063119080.1

EC 2.1.1.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001402213.1 → NP_001389142.1 guanidinoacetate N-methyltransferase isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000007

Related

ENSRNOP00000036927.3, ENSRNOT00000028969.6
NM_012793.3 → NP_036925.2 guanidinoacetate N-methyltransferase isoform 1

See identical proteins and their annotated locations for NP_036925.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000007

UniProtKB/Swiss-Prot

P10868

UniProtKB/TrEMBL

A6K8N3, G3V960

Conserved Domains (1) summary

cd02440
Location:63 → 166

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086025.1 Reference GRCr8

Range

10099267..10102083

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039078453.2 → XP_038934381.1 guanidinoacetate N-methyltransferase isoform X2

Conserved Domains (1) summary

cd02440
Location:63 → 157

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
XM_063263010.1 → XP_063119080.1 guanidinoacetate N-methyltransferase isoform X1

UniProtKB/Swiss-Prot

P10868