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Gamt guanidinoacetate methyltransferase [ Mus musculus (house mouse) ]

Gene ID: 14431, updated on 5-Mar-2024

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 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, Apr 2022]
Expression
Biased expression in adrenal adult (RPKM 294.8), liver adult (RPKM 224.1) and 8 other tissues See more
Orthologs
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Genomic context

See Gamt in Genome Data Viewer
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_000076.7Genomic Context describing neighboring genes Neighboring gene nuclear encoded tRNA pheylalanine 3 (anticodon GAA) Neighboring gene nuclear encoded tRNA asparagine 7 (anticodon GTT) Neighboring gene NADH:ubiquinone oxidoreductase core subunit S7 Neighboring gene STARR-positive B cell enhancer ABC_E5153 Neighboring gene STARR-positive B cell enhancer ABC_E10627 Neighboring gene DAZ associated protein 1 Neighboring gene microRNA 6911 Neighboring gene predicted gene 15122

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (2) 

Pathways from PubChem

General gene information

Markers

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 identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
guanidinoacetate N-methyltransferase
NP_001334048.1
NP_034385.1

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.

mRNA and Protein(s)

  1. NM_001347119.1NP_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
  2. NM_010255.4NP_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:63166
    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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    80093985..80096846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)