Gatm glycine amidinotransferase (L-arginine:glycine amidinotransferase) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gatmprovided by MGI
Official Full Name: glycine amidinotransferase (L-arginine:glycine amidinotransferase)provided by MGI
Primary source: MGI:MGI:1914342
See related: Ensembl:ENSMUSG00000027199 AllianceGenome:MGI:1914342
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: AT; 1810003P21Rik
Summary: Predicted to enable glycine amidinotransferase activity. Involved in positive regulation of cold-induced thermogenesis. Located in mitochondrion. Is expressed in several structures, including extraembryonic component; foregut; genitourinary system; limb; and musculature. Human ortholog(s) of this gene implicated in AGAT deficiency and Fanconi renotubular syndrome 1. Orthologous to human GATM (glycine amidinotransferase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in kidney adult (RPKM 419.4), cerebellum adult (RPKM 40.8) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 60.63 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (122424954..122441758, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (122594473..122611277, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

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.
AGAT-/- mice develop cardiac dysfunction that is rescued by exogenous homoarginine, not creatine.
Title: Impaired cardiac contractile function in arginine:glycine amidinotransferase knockout mice devoid of creatine is rescued by homoarginine but not creatine.
results show marked metabolic effects of creatine deficiency via the chronic activation of AMPK in a first animal model of AGAT deficiency
Title: L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (7) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI314789 (e-PCR)
- UniSTS:159013

BG377645 (e-PCR)
- UniSTS:244518

Gatm (e-PCR), detects polymorphism
- UniSTS:462683

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amidinotransferase activity	ISO Inferred from Sequence Orthology more info
enables amidinotransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glycine amidinotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycine amidinotransferase activity	ISO Inferred from Sequence Orthology more info
enables glycine amidinotransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
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	ISO Inferred from Sequence Orthology more info
involved_in creatine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in kidney development	ISO Inferred from Sequence Orthology more info
involved_in learning or memory	IEA Inferred from Electronic Annotation more info
involved_in learning or memory	ISO Inferred from Sequence Orthology more info
involved_in muscle atrophy	IEA Inferred from Electronic Annotation more info
involved_in muscle atrophy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to mercury ion	ISO Inferred from Sequence Orthology more info
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info
involved_in response to peptide hormone	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial intermembrane space	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: glycine amidinotransferase, mitochondrial

Names: L-arginine:glycine amidinotransferase; transamidinase

NP_080237.1

EC 2.1.4.1

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.