Gamt guanidinoacetate methyltransferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gamtprovided by MGI
Official Full Name: guanidinoacetate methyltransferaseprovided by MGI
Primary source: MGI:MGI:1098221
See related: Ensembl:ENSMUSG00000020150 AllianceGenome:MGI:1098221
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Spintz1
Summary: Predicted to enable guanidinoacetate N-methyltransferase activity and identical protein binding activity. Acts upstream of or within several processes, including creatine biosynthetic process; regulation of growth; and spermatogenesis. Predicted to be located in cytosol. Predicted to be active in cytoplasm and nucleus. Is expressed in brain; future brain; hepatic primordium; liver; and pancreas. Used to study guanidinoacetate methyltransferase deficiency. 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, Nov 2024]
Expression: Biased expression in adrenal adult (RPKM 294.8), liver adult (RPKM 224.1) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (80093985..80096846, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (80258151..80261025, complement)

Chromosome 10 - NC_000076.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.
Title: Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.
Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration.
Title: Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration.
Marker enzyme activities in hindleg from creatine-deficient AGAT and GAMT KO mice - differences between models, muscles, and sexes.
Title: Marker enzyme activities in hindleg from creatine-deficient AGAT and GAMT KO mice - differences between models, muscles, and sexes.
Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure.
Title: Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure.
Inactivation of the creatine kinase system by GAMT deficiency does not alter mitochondrial organization and intracellular compartmentation in relaxed cardiomyocytes.
Title: Unchanged mitochondrial organization and compartmentation of high-energy phosphates in creatine-deficient GAMT-/- mouse hearts.
In the fetal brain, mRNA expression of GAMT was relatively low until 34 days gestation (term is 38-39 days). In the fetal kidney and liver, GAMT mRNA and protein expression were also relatively low until 34-37 days gestation.
Title: Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse.
Our results can provide the basis for additional experiments to optimize Cr supplementation in GAMT deficiency, as increases in brain Cr are slow in patients after Cr supplementation.
Title: Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.
GAMT and AGAT mRNA are up-regulated 5.4- and 1.9-fold respectively in adult mdx muscle compared to C57
Title: Upregulation of the creatine synthetic pathway in skeletal muscles of mature mdx mice.
GAMT(Cr)-/- mice showed differences in maximal rates of force rise and relaxation times during the isometric protocol as well as in force during the dynamic protocol.
Title: Lower force and impaired performance during high-intensity electrical stimulation in skeletal muscle of GAMT-deficient knockout mice.
GAMT was expressed highly in oligodendrocytes and olfactory ensheathing glia and moderately in astrocytes, whereas GAMT was very low in neurons and microglia.
Title: Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (2)
Targeted (1) 1 citation

General gene information

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Markers

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

RH124521 (e-PCR)
- UniSTS:161343

Gamt (e-PCR), detects polymorphism
- UniSTS:546784

PMC311070P1 (e-PCR)
- UniSTS:272891

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables S-adenosylmethionine-dependent methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables guanidinoacetate N-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor 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 identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in S-adenosylhomocysteine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in S-adenosylmethionine metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in creatine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in creatine biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within creatine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in creatine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in methylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in microvillus	IEA Inferred from Electronic Annotation 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

NP_001334048.1

EC 2.1.1.2

NP_034385.1

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_001347119.1 → NP_001334048.1 guanidinoacetate N-methyltransferase isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2), has the same N- and C-termini, but is longer than isoform 1.

Source sequence(s)

AA222404, AC140229, AK140688, BE992264

Consensus CDS

CCDS83728.1

UniProtKB/Swiss-Prot

O35969

Related

ENSMUSP00000020359.7, ENSMUST00000020359.7
NM_010255.4 → NP_034385.1 guanidinoacetate N-methyltransferase isoform 1

See identical proteins and their annotated locations for NP_034385.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).

Source sequence(s)

AA222404, AC140229, AK140688, AK158087, BE992264

Consensus CDS

CCDS35976.1

UniProtKB/Swiss-Prot

O35969, Q3TZ58, Q3US90

Related

ENSMUSP00000101002.2, ENSMUST00000105363.8

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). ...