Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 190 (08 May 2019)
Sequence version 1 (01 Oct 1996)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Glycine amidinotransferase, mitochondrial

Gene

GATM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=2.0 µM for arginine2 Publications
  2. KM=3.0 µM for glycine2 Publications
  1. Vmax=0.44 µmol/min/mg enzyme2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: creatine biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes creatine from L-arginine and glycine.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Glycine amidinotransferase, mitochondrial (GATM)
  2. Guanidinoacetate N-methyltransferase (HEL-S-20), Guanidinoacetate N-methyltransferase (GAMT)
This subpathway is part of the pathway creatine biosynthesis, which is itself part of Amine and polyamine biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes creatine from L-arginine and glycine, the pathway creatine biosynthesis and in Amine and polyamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei2541
Active sitei3031
Active sitei407Amidino-cysteine intermediate1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • amidinotransferase activity Source: GO_Central
  • glycine amidinotransferase activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS10376-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.1.4.1 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-71288 Creatine metabolism

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00104;UER00579

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glycine amidinotransferase, mitochondrial (EC:2.1.4.12 Publications)
Alternative name(s):
L-arginine:glycine amidinotransferase
Transamidinase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GATM
Synonyms:AGAT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4175 GATM

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602360 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P50440

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cerebral creatine deficiency syndrome 3 (CCDS3)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07648323R → Q in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs370155767EnsemblClinVar.1
Natural variantiVAR_07648493I → V in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs34991226EnsemblClinVar.1
Natural variantiVAR_076485102K → N in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs376335787EnsemblClinVar.1
Natural variantiVAR_076486105P → L in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs147804855EnsemblClinVar.1
Natural variantiVAR_076487181E → K in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs376982466EnsemblClinVar.1
Natural variantiVAR_076488185A → P in CCDS3; decreases glycine amidinotransferase activity. 2 Publications1
Natural variantiVAR_076489189R → C in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs377578020EnsemblClinVar.1
Natural variantiVAR_069816203Y → S in CCDS3; loss of glycine amidinotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs397514709EnsemblClinVar.1
Natural variantiVAR_076490208A → T in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs374059924EnsemblClinVar.1
Natural variantiVAR_076493282R → H in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs371447931EnsemblClinVar.1
Natural variantiVAR_076494329L → V in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs373802463EnsemblClinVar.1
Natural variantiVAR_076495346P → L in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs142814307EnsemblClinVar.1
Natural variantiVAR_071789413R → Q in CCDS3; loss of glycine amidinotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs1461653218Ensembl.1
Natural variantiVAR_071790413R → W in CCDS3; loss of glycine amidinotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs1244824806Ensembl.1
Natural variantiVAR_076496415R → Q in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs374592247EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi170D → N: Complete loss of activity. 1 Publication1
Mutagenesisi233E → K: Complete loss of activity; when associated with S-407. 1 Publication1
Mutagenesisi254D → N: Significantly reduced activity. 1 Publication1
Mutagenesisi303H → V: Complete loss of activity. 1 Publication1
Mutagenesisi305D → A: Complete loss of activity. 1 Publication1
Mutagenesisi322R → E: Significantly reduced activity. 1 Publication1
Mutagenesisi355S → A: Significantly reduced activity. 1 Publication1
Mutagenesisi407C → S: Complete loss of activity; when associated with K-233. 1 Publication1
Mutagenesisi410C → A: No effect on activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2628

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
GATM

MalaCards human disease database

More...
MalaCardsi
GATM
MIMi612718 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000171766

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
35704 L-Arginine:glycine amidinotransferase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28590

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB04454 Alpha-Aminobutyric Acid
DB02068 Delta-Amino Valeric Acid
DB02530 Gamma(Amino)-Butyric Acid
DB00145 Glycine
DB00129 L-Ornithine
DB04185 Norvaline

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GATM

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1730201

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 37MitochondrionBy similarityAdd BLAST37
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000120638 – 423Glycine amidinotransferase, mitochondrialAdd BLAST386

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei46PhosphoserineCombined sources1
Modified residuei49PhosphoserineCombined sources1
Modified residuei385N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P50440

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P50440

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P50440

PeptideAtlas

More...
PeptideAtlasi
P50440

PRoteomics IDEntifications database

More...
PRIDEi
P50440

ProteomicsDB human proteome resource

More...
ProteomicsDBi
56222
56223 [P50440-2]
56224 [P50440-3]

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
IPI00032103

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P50440

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P50440

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues.3 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Expression is elevated in the myocardium during heart failure, and decreased in inter-uterine growth restriction (IUGR)-associated placenta.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000171766 Expressed in 231 organ(s), highest expression level in nephron tubule

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P50440 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P50440 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026077

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. There is an equilibrium between the monomeric and dimeric forms, shifted towards the side of the monomer.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108898, 3 interactors

Protein interaction database and analysis system

More...
IntActi
P50440, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379895

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1423
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Database of protein disorder

More...
DisProti
DP00099

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P50440

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P50440

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

One chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the amidinotransferase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFBR Eukaryota
ENOG410Y45M LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000011613

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231593

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P50440

KEGG Orthology (KO)

More...
KOi
K00613

Identification of Orthologs from Complete Genome Data

More...
OMAi
TTEHEPC

Database of Orthologous Groups

More...
OrthoDBi
636718at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P50440

TreeFam database of animal gene trees

More...
TreeFami
TF300256

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR033195 AmidinoTrfase

The PANTHER Classification System

More...
PANTHERi
PTHR10488 PTHR10488, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50440-1) [UniParc]FASTAAdd to basket
Also known as: Mitochondrial

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLRVRCLRGG SRGAEAVHYI GSRLGRTLTG WVQRTFQSTQ AATASSRNSC
60 70 80 90 100
AADDKATEPL PKDCPVSSYN EWDPLEEVIV GRAENACVPP FTIEVKANTY
110 120 130 140 150
EKYWPFYQKQ GGHYFPKDHL KKAVAEIEEM CNILKTEGVT VRRPDPIDWS
160 170 180 190 200
LKYKTPDFES TGLYSAMPRD ILIVVGNEII EAPMAWRSRF FEYRAYRSII
210 220 230 240 250
KDYFHRGAKW TTAPKPTMAD ELYNQDYPIH SVEDRHKLAA QGKFVTTEFE
260 270 280 290 300
PCFDAADFIR AGRDIFAQRS QVTNYLGIEW MRRHLAPDYR VHIISFKDPN
310 320 330 340 350
PMHIDATFNI IGPGIVLSNP DRPCHQIDLF KKAGWTIITP PTPIIPDDHP
360 370 380 390 400
LWMSSKWLSM NVLMLDEKRV MVDANEVPIQ KMFEKLGITT IKVNIRNANS
410 420
LGGGFHCWTC DVRRRGTLQS YLD
Length:423
Mass (Da):48,455
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5BEF7A8A039B70FB
GO
Isoform 2 (identifier: P50440-2) [UniParc]FASTAAdd to basket
Also known as: Cytoplasmic

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQ → MNILK

Show »
Length:391
Mass (Da):44,883
Checksum:iDA7E75BB41D91528
GO
Isoform 3 (identifier: P50440-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     388-423: ITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD → MYNK

Show »
Length:391
Mass (Da):44,943
Checksum:i692D75D4BCD1B990
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YMX4H0YMX4_HUMAN
Glycine amidinotransferase, mitocho...
GATM
167Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YKW9H0YKW9_HUMAN
Glycine amidinotransferase, mitocho...
GATM
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLC6H0YLC6_HUMAN
Glycine amidinotransferase, mitocho...
GATM
32Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YN43H0YN43_HUMAN
Glycine amidinotransferase, mitocho...
GATM
31Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YL75H0YL75_HUMAN
Glycine amidinotransferase, mitocho...
GATM
15Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAG60595 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti98N → I in BAG60595 (PubMed:14702039).Curated1
Sequence conflicti246T → I in BAG60595 (PubMed:14702039).Curated1
Sequence conflicti384E → G in BAG58060 (PubMed:14702039).Curated1
Sequence conflicti395I → V in BAG60595 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07648323R → Q in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs370155767EnsemblClinVar.1
Natural variantiVAR_07648493I → V in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs34991226EnsemblClinVar.1
Natural variantiVAR_076485102K → N in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs376335787EnsemblClinVar.1
Natural variantiVAR_076486105P → L in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs147804855EnsemblClinVar.1
Natural variantiVAR_020305110Q → H1 PublicationCorresponds to variant dbSNP:rs1288775EnsemblClinVar.1
Natural variantiVAR_076487181E → K in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs376982466EnsemblClinVar.1
Natural variantiVAR_076488185A → P in CCDS3; decreases glycine amidinotransferase activity. 2 Publications1
Natural variantiVAR_076489189R → C in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs377578020EnsemblClinVar.1
Natural variantiVAR_069816203Y → S in CCDS3; loss of glycine amidinotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs397514709EnsemblClinVar.1
Natural variantiVAR_076490208A → T in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs374059924EnsemblClinVar.1
Natural variantiVAR_076491231S → C Decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs202225656EnsemblClinVar.1
Natural variantiVAR_076492234D → G Decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs146057680EnsemblClinVar.1
Natural variantiVAR_076493282R → H in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs371447931EnsemblClinVar.1
Natural variantiVAR_076494329L → V in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs373802463EnsemblClinVar.1
Natural variantiVAR_076495346P → L in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs142814307EnsemblClinVar.1
Natural variantiVAR_071789413R → Q in CCDS3; loss of glycine amidinotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs1461653218Ensembl.1
Natural variantiVAR_071790413R → W in CCDS3; loss of glycine amidinotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs1244824806Ensembl.1
Natural variantiVAR_076496415R → Q in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs374592247EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0002351 – 37MLRVR…QRTFQ → MNILK in isoform 2. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_039871388 – 423ITTIK…QSYLD → MYNK in isoform 3. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
S68805 mRNA Translation: AAB29892.1
X86401 mRNA Translation: CAA60153.1
AK294995 mRNA Translation: BAG58060.1
AK298350 mRNA Translation: BAG60595.1 Different initiation.
AK223585 mRNA Translation: BAD97305.1
AC025580 Genomic DNA No translation available.
BC004141 mRNA Translation: AAH04141.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10122.1 [P50440-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
S41734
S54161

NCBI Reference Sequences

More...
RefSeqi
NP_001473.1, NM_001482.2 [P50440-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000396659; ENSP00000379895; ENSG00000171766 [P50440-1]
ENST00000558336; ENSP00000454008; ENSG00000171766 [P50440-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2628

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2628

UCSC genome browser

More...
UCSCi
uc001zvc.4 human [P50440-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S68805 mRNA Translation: AAB29892.1
X86401 mRNA Translation: CAA60153.1
AK294995 mRNA Translation: BAG58060.1
AK298350 mRNA Translation: BAG60595.1 Different initiation.
AK223585 mRNA Translation: BAD97305.1
AC025580 Genomic DNA No translation available.
BC004141 mRNA Translation: AAH04141.1
CCDSiCCDS10122.1 [P50440-1]
PIRiS41734
S54161
RefSeqiNP_001473.1, NM_001482.2 [P50440-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JDWX-ray1.90A1-423[»]
1JDXX-ray2.40A38-423[»]
2JDWX-ray2.10A1-423[»]
2JDXX-ray2.90A38-423[»]
3JDWX-ray2.40A1-423[»]
4JDWX-ray2.50A1-423[»]
5JDWX-ray2.60A38-423[»]
6JDWX-ray2.50A38-423[»]
7JDWX-ray2.37A38-423[»]
8JDWX-ray2.30A38-423[»]
9JDWX-ray2.50A38-423[»]
DisProtiDP00099
SMRiP50440
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108898, 3 interactors
IntActiP50440, 7 interactors
STRINGi9606.ENSP00000379895

Chemistry databases

DrugBankiDB04454 Alpha-Aminobutyric Acid
DB02068 Delta-Amino Valeric Acid
DB02530 Gamma(Amino)-Butyric Acid
DB00145 Glycine
DB00129 L-Ornithine
DB04185 Norvaline

PTM databases

iPTMnetiP50440
PhosphoSitePlusiP50440

Polymorphism and mutation databases

BioMutaiGATM
DMDMi1730201

2D gel databases

REPRODUCTION-2DPAGEiIPI00032103

Proteomic databases

jPOSTiP50440
MaxQBiP50440
PaxDbiP50440
PeptideAtlasiP50440
PRIDEiP50440
ProteomicsDBi56222
56223 [P50440-2]
56224 [P50440-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2628
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396659; ENSP00000379895; ENSG00000171766 [P50440-1]
ENST00000558336; ENSP00000454008; ENSG00000171766 [P50440-3]
GeneIDi2628
KEGGihsa:2628
UCSCiuc001zvc.4 human [P50440-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2628
DisGeNETi2628

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GATM
GeneReviewsiGATM
HGNCiHGNC:4175 GATM
HPAiHPA026077
MalaCardsiGATM
MIMi602360 gene
612718 phenotype
neXtProtiNX_P50440
OpenTargetsiENSG00000171766
Orphaneti35704 L-Arginine:glycine amidinotransferase deficiency
PharmGKBiPA28590

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFBR Eukaryota
ENOG410Y45M LUCA
GeneTreeiENSGT00390000011613
HOGENOMiHOG000231593
InParanoidiP50440
KOiK00613
OMAiTTEHEPC
OrthoDBi636718at2759
PhylomeDBiP50440
TreeFamiTF300256

Enzyme and pathway databases

UniPathwayiUPA00104;UER00579
BioCyciMetaCyc:HS10376-MONOMER
BRENDAi2.1.4.1 2681
ReactomeiR-HSA-71288 Creatine metabolism

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GATM human
EvolutionaryTraceiP50440

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GATM_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2628

Protein Ontology

More...
PROi
PR:P50440

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000171766 Expressed in 231 organ(s), highest expression level in nephron tubule
ExpressionAtlasiP50440 baseline and differential
GenevisibleiP50440 HS

Family and domain databases

InterProiView protein in InterPro
IPR033195 AmidinoTrfase
PANTHERiPTHR10488 PTHR10488, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGATM_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P50440
Secondary accession number(s): B4DH99, B4DPI3, Q53EQ4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: May 8, 2019
This is version 190 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again