GATM

GENERAL INFORMATION

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Gene name

GATM

Gene description

Glycine amidinotransferase (L-arginine:glycine amidinotransferase)

Protein class

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

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (kidney, liver, pancreas)
GTEx:Group enriched (kidney, liver, pancreas)

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA026077
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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

Organ

Expression

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

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

2628

UniProt

P50440 (UniProt - Evidence at protein level)

neXtProt

NX_P50440

Antibodypedia

GATM antibodies


PROTEIN BROWSER

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ENST00000396659
 
ENST00000558163
 
ENST00000558336
 
ENST00000558537
 
ENST00000559885
 
ENST00000561148
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GATM-001 ENSP00000379895
ENST00000396659
P50440
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Show » Show » 423 48.5 No 0
GATM-002 ENSP00000454008
ENST00000558336
P50440
Show all »
Show » Show » 391 44.9 No 0
GATM-004 ENSP00000453781
ENST00000558163
H0YMX4
Show all »
Show » 167 19.5 No 0
GATM-006 ENSP00000453151
ENST00000558537
H0YLC6
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Show » 32 3.7 No 0
GATM-007 ENSP00000453087
ENST00000559885
Show » 15 1.7 No 0
GATM-008 ENSP00000453860
ENST00000561148
H0YN43
Show all »
Show » 31 3.6 No 0