GATM (glycine amidinotransferase)

2014-11-01 Affiliation

Identity

HGNC

GATM

LOCATION

15q21.1

LOCUSID

2628

ALIAS

AGAT,AT,CCDS3,FRTS1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2628
MIM: 602360
HGNC: 4175
Ensembl: ENSG00000171766

Variants:

dbSNP: 2628
ClinVar: 2628
TCGA: ENSG00000171766
COSMIC: GATM

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171766	ENST00000396659	P50440
ENSG00000171766	ENST00000396659	A0A140VK19
ENSG00000171766	ENST00000558118	H0YKW9
ENSG00000171766	ENST00000558163	H0YMX4
ENSG00000171766	ENST00000558336	P50440
ENSG00000171766	ENST00000558537	H0YLC6
ENSG00000171766	ENST00000559885	H0YL75
ENSG00000171766	ENST00000561148	H0YN43

Expression (GTEx)

100

200

300

400

500

600

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Glycine, serine and threonine metabolism	KEGG	ko00260
Arginine and proline metabolism	KEGG	ko00330
Glycine, serine and threonine metabolism	KEGG	hsa00260
Arginine and proline metabolism	KEGG	hsa00330
Metabolic pathways	KEGG	hsa01100
Creatine pathway	KEGG	hsa_M00047
Creatine pathway	KEGG	M00047
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Creatine metabolism	REACTOME	R-HSA-71288
Metabolism of polyamines	REACTOME	R-HSA-351202

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD
PA133950441	hmg coa reductase inhibitors	Chemical	ClinicalAnnotation	associated	PK	PD
PA445019	Myocardial Infarction	Disease	ClinicalAnnotation	associated	PK	PD
PA451363	simvastatin	Chemical	ClinicalAnnotation	associated	PK	PD

References

Pubmed ID	Year	Title	Citations
19430482	2009	Multiple loci associated with indices of renal function and chronic kidney disease.	245
16820567	2006	Myocardial expression of the arginine:glycine amidinotransferase gene is elevated in heart failure and normalized after recovery: potential implications for local creatine synthesis.	25
26542286	2015	Creatine biosynthesis and transport in health and disease.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
24004504	2013	Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies.	12
23010440	2012	Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine.	11
25863251	2015	GATM polymorphism associated with the risk for statin-induced myopathy does not replicate in case-control analysis of 715 dyslipidemic individuals.	9
26490222	2015	Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.	8
29654216	2018	Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.	8
20682460	2010	l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.	6

Citation

Dessen P

GATM (glycine amidinotransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/55531/gatm