GATM - glycine amidinotransferase Gene

Also Known as AT; AGAT; CCDS3; FRTS1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 2628

About GATM

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,361,124-45,402,227 (from NCBI)

This gene has 19 transcripts (splice variants), 208 orthologues and is associated with 5 phenotypes. Biased expression in kidney (RPKM 706.9), liver (RPKM 467.2) and 8 other tissues.

Summary

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

GATM Products (2)

mRNA	Protein	Name
NM_001321015.2	NP_001307944.1	glycine amidinotransferase, mitochondrial isoform 2
NM_001482.3	NP_001473.1	glycine amidinotransferase, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables amidinotransferase activity	IDA IDA: Inferred from direct assay	36543883	GOA
enables glycine amidinotransferase activity	IDA IDA: Inferred from direct assay	9218780	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
acts upstream of or within creatine biosynthetic process	IDA IDA: Inferred from direct assay	9218780	GOA
involved in creatine metabolic process	IMP IMP: Inferred from mutant phenotype	26490222	GOA
involved in learning or memory	IMP IMP: Inferred from mutant phenotype	26490222	GOA
involved in muscle atrophy	IMP IMP: Inferred from mutant phenotype	26490222	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	9218780	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GATM Protein Structure

Amidinotransf

0
100
200
300
400
423 a.a.

Protein Preferred Names	Protein Names
glycine amidinotransferase, mitochondrial	glycine amidinotransferase (L-arginine:glycine amidinotransferase)

GATM Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	GATM	P50440	ADAMTSL4	Homo sapiens	Q6UY14-3	Validated Y2H	32814053
Intra	GATM	P50440	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Pooling	32814053
Intra	GATM	P50440	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Array	32814053
Intra	GATM	P50440	GRB10	Homo sapiens	Q13322-4	Validated Y2H	32814053
Intra	GATM	P50440	GRB10	Homo sapiens	Q13322-4	Y2H Array	32814053
Intra	GATM	P50440	GRB10	Homo sapiens	Q13322-4	Y2H Pooling	32814053
Intra	GATM	P50440	TMEM185A	Homo sapiens	Q8NFB2	Validated Y2H	32814053
Intra	GATM	P50440	TMEM185A	Homo sapiens	Q8NFB2	Y2H Array	32814053
Intra	GATM	P50440	TMEM185A	Homo sapiens	Q8NFB2	Y2H Pooling	32814053
Intra	GATM	P50440	LPIN1	Homo sapiens	Q14693	Y2H Pooling	32814053
Intra	GATM	P50440	LPIN1	Homo sapiens	Q14693	Validated Y2H	32814053
Intra	GATM	P50440	LPIN1	Homo sapiens	Q14693	Y2H Array	32814053
Intra	GATM	P50440	ITGB3BP	Homo sapiens	Q13352	Validated Y2H	32814053
Intra	GATM	P50440	ITGB3BP	Homo sapiens	Q13352	Y2H Pooling	32814053
Intra	GATM	P50440	ITGB3BP	Homo sapiens	Q13352	Y2H Array	32814053
Intra	GATM	P50440	RPUSD4	Homo sapiens	Q96CM3	Y2H Pooling	32814053
Intra	GATM	P50440	RPUSD4	Homo sapiens	Q96CM3	Validated Y2H	32814053
Intra	GATM	P50440	RPUSD4	Homo sapiens	Q96CM3	Y2H Array	32814053
Intra	GATM	P50440	BECN1	Homo sapiens	Q14457	Validated Y2H	32814053
Intra	GATM	P50440	BECN1	Homo sapiens	Q14457	Y2H Array	32814053
Intra	GATM	P50440	BECN1	Homo sapiens	Q14457	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Cerebral Creatine Deficiency Syndrome 3	Arginine:Glycine Amidinotransferase Deficiency Agat Deficiency Gatm Deficiency Creatine Deficiency Syndrome Due To Agat Deficiency L-Arginine:Glycine Amidinotransferase Deficiency CCDS3 L-Arginine:Glycine Aminidotransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 3
Fanconi Renotubular Syndrome 1	Renal Fanconi Syndrome Adult Fanconi Syndrome FRTS1 Fanconi Renotubular Syndrome Frts Rfs Fanconi Syndrome Without Cystinosis Luder-Sheldon Syndrome
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Cerebral Creatine Deficiency Syndrome	Deficiency, Cerebral Creatine, Syndrome
Speech And Communication Disorders	Language Disorder Communication Disorder Language Disorders Communication Disorders Speech Language Disorder Speech-Language Disorder Communication Impairment Speech And Language Disorder
Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency Gamt Deficiency Creatine Deficiency Syndrome Due To Gamt Deficiency Deficiency Of Guanidinoacetate Methyltransferase CCDS2 Guanidinoacetate Methyltransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 2 Language Development Disorders
Cerebral Creatine Deficiency Syndrome 1	Creatine Transporter Deficiency Creatine Transporter Defect Slc6a8 Deficiency X-Linked Creatine Deficiency Syndrome CCDS1 Creatine Deficiency Syndrome, X-Linked X-Linked Creatine Deficiency Creatine Deficiency, X-Linked X-Linked Creatine Transporter Deficiency Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia Mental Retardation, X-Linked, With Creatine Transport Deficiency Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia Intellectual Disability, X-Linked, With Creatine Transport Deficiency Slc6a8-Related Creatine Transporter Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 1
Aminoaciduria
Myopathy	Muscular Diseases Myopathies
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS19134	Gatm Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05300	GATM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25624	Gatm Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	GATM	MGD	MGI:1914342
Macaca mulatta	GATM	VGNC	VGNC:72892
Felis catus	GATM	VGNC	VGNC:62480
Canis familiaris	GATM	VGNC	VGNC:41129
Bos taurus	GATM	VGNC	VGNC:29274
Rattus norvegicus	GATM	RGD	RGD:71090
Others	GATM	NCBI