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GATM

GENERAL INFORMATION

Gene name

 GATM

Gene description

 Glycine amidinotransferase (L-arginine:glycine amidinotransferase)

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (kidney, liver, pancreas)
GTEx:Group enriched (kidney, liver, pancreas)
FANTOM5:Group enriched (liver, pancreas)

Protein evidence

 Evidence at protein level

Protein expression

 Granular cytoplasmic expression in several different tissue types, mainly in kidney, liver and pancreas.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA026077
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (kidney, liver, pancreas)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (kidney, liver, pancreas)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (liver, pancreas)

GENE INFORMATION

Gene name

 GATM (HGNC Symbol)

Synonyms

 AGAT

Description

 Glycine amidinotransferase (L-arginine:glycine amidinotransferase) (HGNC Symbol)

Entrez gene 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 mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

Chromosome

 15

Cytoband

 q21.1

Chromosome location (bp)

 45361124 - 45402327

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000171766 (version 83.38)

Entrez gene

 2628

UniProt

 P50440 (UniProt - Evidence at protein level)

neXtProt

 NX_P50440

Antibodypedia

 GATM antibodies

PROTEIN BROWSER
GATM-001
GATM-002
GATM-004
GATM-006
GATM-007
GATM-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GATM-001
ENSP00000379895
ENST00000396659
P50440 [Direct mapping]
Glycine amidinotransferase, mitochondrial
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005758 [mitochondrial intermembrane space]
GO:0006595 [polyamine metabolic process]
GO:0006600 [creatine metabolic process]
GO:0006601 [creatine biosynthetic process]
GO:0015068 [glycine amidinotransferase activity]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0070062 [extracellular exosome]
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 423 aa
48.5 kDa 		No 0
GATM-002
ENSP00000454008
ENST00000558336
P50440 [Direct mapping]
Glycine amidinotransferase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005743 [mitochondrial inner membrane]
GO:0005758 [mitochondrial intermembrane space]
GO:0006595 [polyamine metabolic process]
GO:0006600 [creatine metabolic process]
GO:0006601 [creatine biosynthetic process]
GO:0015068 [glycine amidinotransferase activity]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0070062 [extracellular exosome]
Show all
 391 aa
44.9 kDa 		No 0
GATM-004
ENSP00000453781
ENST00000558163
H0YMX4 [Direct mapping]
Glycine amidinotransferase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 167 aa
19.5 kDa 		No 0
GATM-006
ENSP00000453151
ENST00000558537
H0YLC6 [Direct mapping]
Glycine amidinotransferase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 32 aa
3.7 kDa 		No 0
GATM-007
ENSP00000453087
ENST00000559885
H0YL75 [Direct mapping]
Glycine amidinotransferase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 15 aa
1.7 kDa 		No 0
GATM-008
ENSP00000453860
ENST00000561148
H0YN43 [Direct mapping]
Glycine amidinotransferase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 31 aa
3.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.