Type |
Details |
Score |
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
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Title: |
GemPharmatech Website. |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
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Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
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Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
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Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
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Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
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Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
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Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
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Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
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Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
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Title: |
Annotation inferences using phylogenetic trees |
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Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
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Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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Publication |
First Author: |
Almeida LS |
Year: |
2007 |
Journal: |
Mol Genet Metab |
Title: |
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. |
Volume: |
91 |
Issue: |
1 |
Pages: |
1-6 |
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DO Term |
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Allele |
Name: |
guanidinoacetate methyltransferase; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
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Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
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Publication |
First Author: |
Tachikawa M |
Year: |
2004 |
Journal: |
Eur J Neurosci |
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. |
Volume: |
20 |
Issue: |
1 |
Pages: |
144-60 |
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Allele |
Name: |
guanidinoacetate methyltransferase; targeted mutation 1, Dirk Isbrandt |
Allele Type: |
Targeted |
Attribute String: |
Null/knockout |
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Genotype |
Symbol: |
Gamt/Gamt |
Background: |
involves: 129S1/Sv * 129X1/SvJ |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Publication |
First Author: |
Komoto J |
Year: |
2002 |
Journal: |
J Mol Biol |
Title: |
Crystal structure of guanidinoacetate methyltransferase from rat liver: a model structure of protein arginine methyltransferase. |
Volume: |
320 |
Issue: |
2 |
Pages: |
223-35 |
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Publication |
First Author: |
Stöckler S |
Year: |
1994 |
Journal: |
Pediatr Res |
Title: |
Creatine deficiency in the brain: a new, treatable inborn error of metabolism. |
Volume: |
36 |
Issue: |
3 |
Pages: |
409-13 |
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Protein Domain |
Type: |
Family |
Description: |
Guanidinoacetate methyltransferase (GAMT; ) catalyses the last step of creatine biosynthesis. In humans, GAMT is believed to be the major enzyme involved in the metabolic conversion of S-adenosylmethionine (SAM) to S-adenosylhomocycteine (SAH). GAMT is found in abundance in the liver of all vertebrates. The crystal structure of a truncated version of GAMT shows that it exists as a dimer [], and the structure can be viewed as a ternary complex between protein arginine methyltransferase (one subunit) complexed with a protein substrate (the partner subunit) and the product SAH []. Deficiency of GAMT in the liver causes a hereditary disease with extra pyramidal motor disorder and extremely low concentrations of creatine in the brain, serum and urine []. |
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Protein Domain |
Type: |
Domain |
Description: |
This domain is found in arginine N-methyltransferase 2, a delta-N-monomethylarginine transferase which monomethylates 'Arg-67' of ribosomal protein L12 []. The domain is also found in guanidinoacetate N-methyltransferase (GAMT), defects in which cause GAMT deficiency, an autosomal recessive disorder []. |
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Allele |
Name: |
guanidinoacetate methyltransferase; mutaiton 1, Bruce Beutler |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
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Strain |
Attribute String: |
chemically induced mutation, coisogenic, mutant strain |
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Genotype |
Symbol: |
Gamt/Gamt |
Background: |
C57BL/6J-Gamt |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
236
 |
Fragment?: |
false |
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Publication |
First Author: |
Chern MK |
Year: |
2002 |
Journal: |
J Biol Chem |
Title: |
Yeast ribosomal protein L12 is a substrate of protein-arginine methyltransferase 2. |
Volume: |
277 |
Issue: |
18 |
Pages: |
15345-53 |
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Publication |
First Author: |
Isbrandt D |
Year: |
1995 |
Journal: |
Biochim Biophys Acta |
Title: |
Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA. |
Volume: |
1264 |
Issue: |
3 |
Pages: |
265-7 |
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Publication |
First Author: |
Russell AP |
Year: |
2014 |
Journal: |
Front Physiol |
Title: |
Creatine transporter (SLC6A8) knockout mice display an increased capacity for in vitro creatine biosynthesis in skeletal muscle. |
Volume: |
5 |
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Pages: |
314 |
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Publication |
First Author: |
Hannemann J |
Year: |
2021 |
Journal: |
Front Physiol |
Title: |
Arginine:Glycine Amidinotransferase Is Essential for Creatine Supply in Mice During Chronic Hypoxia. |
Volume: |
12 |
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Pages: |
703069 |
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Publication |
First Author: |
Rosko LM |
Year: |
2023 |
Journal: |
J Neurosci |
Title: |
Cerebral Creatine Deficiency Affects the Timing of Oligodendrocyte Myelination. |
Volume: |
43 |
Issue: |
7 |
Pages: |
1143-1153 |
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