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Protein

Guanidinoacetate N-methyltransferase

Gene

GAMT

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

Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674).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 <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 2 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 (GAMT), Guanidinoacetate N-methyltransferase (HEL-S-20)
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 ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei20S-adenosyl-L-methionine1
Binding sitei42SubstratePROSITE-ProRule annotation1
Binding sitei46SubstratePROSITE-ProRule annotation1
Binding sitei50S-adenosyl-L-methionine1
Binding sitei135S-adenosyl-L-methionine and substratePROSITE-ProRule annotation1

<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

  • guanidinoacetate N-methyltransferase activity Source: UniProtKB
  • methyltransferase activity Source: Reactome
  • S-adenosylmethionine-dependent methyltransferase activity Source: GO_Central

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 functionMethyltransferase, Transferase
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS05327-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.1.1.2 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-71288 Creatine metabolism
R-HSA-8986944 Transcriptional Regulation by MECP2

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

More...
UniPathwayi
UPA00104;UER00580

<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:
Guanidinoacetate N-methyltransferase (EC:2.1.1.2)
<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:GAMT
<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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000130005.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4136 GAMT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601240 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14353

<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; Source: COMPARTMENTS

<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 2 (CCDS2)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by developmental delay and regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids.
See also OMIM:612736
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_05810220W → S in CCDS2. 2 PublicationsCorresponds to variant dbSNP:rs80338734EnsemblClinVar.1
Natural variantiVAR_07177745W → R in CCDS2; loss of activity. 2 PublicationsCorresponds to variants dbSNP:rs886054247 and dbSNP:rs967404590EnsemblClinVarEnsembl.1
Natural variantiVAR_05810350M → L in CCDS2; retains no significant activity. 2 PublicationsCorresponds to variant dbSNP:rs104894694EnsemblClinVar.1
Natural variantiVAR_05810451H → P in CCDS2; retains no significant activity. 3 Publications1
Natural variantiVAR_05810554A → P in CCDS2; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs1220169908Ensembl.1
Natural variantiVAR_07177868G → C in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs1447665588Ensembl.1
Natural variantiVAR_07177975A → V in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs1441030187Ensembl.1
Natural variantiVAR_07178078V → E in CCDS2. 1 Publication1
Natural variantiVAR_071781110V → F in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs753198836EnsemblClinVar.1
Natural variantiVAR_071782135D → N in CCDS2. 1 PublicationCorresponds to variant dbSNP:rs774144200EnsemblClinVar.1
Natural variantiVAR_071783147H → Y in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs1371496558Ensembl.1
Natural variantiVAR_071784159L → P in CCDS2; loss of activity. 1 Publication1
Natural variantiVAR_071785164G → D in CCDS2. 1 PublicationCorresponds to variant dbSNP:rs760101382EnsemblClinVar.1
Natural variantiVAR_071786166L → P in CCDS2; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs1483148182Ensembl.1
Natural variantiVAR_071787169C → R in CCDS2. 1 Publication1
Natural variantiVAR_058106169C → Y in CCDS2; retains no significant activity. 2 PublicationsCorresponds to variant dbSNP:rs121909272EnsemblClinVar.1
Natural variantiVAR_058107197L → P in CCDS2; loss of activity. 3 Publications1
Natural variantiVAR_071788208R → P in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs767887772Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2593

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

More...
GeneReviewsi
GAMT

MalaCards human disease database

More...
MalaCardsi
GAMT
MIMi612736 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000130005

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

More...
Orphaneti
382 Guanidinoacetate methyltransferase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28549

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00148 Creatine
DB00536 Guanidine
DB02751 N-[Amino(Imino)Methyl]Glycine
DB01752 S-Adenosyl-L-Homocysteine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GAMT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2498404

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00000874302 – 236Guanidinoacetate N-methyltransferaseAdd BLAST235

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 residuei2N-acetylserineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14353

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14353

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

More...
PaxDbi
Q14353

PeptideAtlas

More...
PeptideAtlasi
Q14353

PRoteomics IDEntifications database

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PRIDEi
Q14353

ProteomicsDB human proteome resource

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ProteomicsDBi
59970
59971 [Q14353-2]

2D gel databases

USC-OGP 2-DE database

More...
OGPi
Q14353

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14353

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

More...
PhosphoSitePlusi
Q14353

<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 liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130005 Expressed in 194 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_GAMT

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q14353 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14353 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051806

<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

Monomer.By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108865, 8 interactors

Protein interaction database and analysis system

More...
IntActi
Q14353, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000403536

<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

1236
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ORHX-ray1.86A/B/C/D1-236[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q14353

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

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SMRi
Q14353

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q14353

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini13 – 236RMT2PROSITE-ProRule annotationAdd BLAST224

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni69 – 74S-adenosyl-L-methionine binding6
Regioni90 – 92S-adenosyl-L-methionine3
Regioni117 – 118S-adenosyl-L-methionine binding2
Regioni171 – 172Substrate binding2

<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 class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1709 Eukaryota
ENOG4110T2S LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000018061

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000010290

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005801

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14353

KEGG Orthology (KO)

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KOi
K00542

Identification of Orthologs from Complete Genome Data

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OMAi
NHFDGIL

Database of Orthologous Groups

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OrthoDBi
1297303at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14353

TreeFam database of animal gene trees

More...
TreeFami
TF328555

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016550 GuanidinoAc_N-MeTrfase
IPR026480 RMT2_dom
IPR029063 SAM-dependent_MTases

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF009285 GAMT, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53335 SSF53335, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51559 SAM_RMT2, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 2 <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 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14353-1) [UniParc]FASTAAdd to basket

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
MSAPSATPIF APGENCSPAW GAAPAAYDAA DTHLRILGKP VMERWETPYM
60 70 80 90 100
HALAAAASSK GGRVLEVGFG MAIAASKVQE APIDEHWIIE CNDGVFQRLR
110 120 130 140 150
DWAPRQTHKV IPLKGLWEDV APTLPDGHFD GILYDTYPLS EETWHTHQFN
160 170 180 190 200
FIKNHAFRLL KPGGVLTYCN LTSWGELMKS KYSDITIMFE ETQVPALLEA
210 220 230
GFRRENIRTE VMALVPPADC RYYAFPQMIT PLVTKG
Length:236
Mass (Da):26,318
Last modified:November 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:i6B8E845CE56189F5
GO
Isoform 2 (identifier: Q14353-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     191-236: ETQVPALLEA...QMITPLVTKG → VRPPEVPHGS...TVEGRGGQIA

Note: No experimental confirmation available.
Show »
Length:269
Mass (Da):29,377
Checksum:iD04624287AE534A8
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PR36A0A1W2PR36_HUMAN
Guanidinoacetate N-methyltransferas...
GAMT
213Annotation 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>
K7EM34K7EM34_HUMAN
Guanidinoacetate N-methyltransferas...
GAMT
108Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0717758P → T Rare polymorphism; no effect on activity. 1 PublicationCorresponds to variant dbSNP:rs776498025EnsemblClinVar.1
Natural variantiVAR_05810220W → S in CCDS2. 2 PublicationsCorresponds to variant dbSNP:rs80338734EnsemblClinVar.1
Natural variantiVAR_07177627Y → H Polymorphism; no effect on activity. 1 PublicationCorresponds to variant dbSNP:rs200833152EnsemblClinVar.1
Natural variantiVAR_07529044R → L Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs200339910Ensembl.1
Natural variantiVAR_07177745W → R in CCDS2; loss of activity. 2 PublicationsCorresponds to variants dbSNP:rs886054247 and dbSNP:rs967404590EnsemblClinVarEnsembl.1
Natural variantiVAR_05810350M → L in CCDS2; retains no significant activity. 2 PublicationsCorresponds to variant dbSNP:rs104894694EnsemblClinVar.1
Natural variantiVAR_05810451H → P in CCDS2; retains no significant activity. 3 Publications1
Natural variantiVAR_05810554A → P in CCDS2; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs1220169908Ensembl.1
Natural variantiVAR_07177868G → C in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs1447665588Ensembl.1
Natural variantiVAR_07529171M → V Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs372027428EnsemblClinVar.1
Natural variantiVAR_07177975A → V in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs1441030187Ensembl.1
Natural variantiVAR_07529276S → L Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs150338273EnsemblClinVar.1
Natural variantiVAR_07178078V → E in CCDS2. 1 Publication1
Natural variantiVAR_07529378V → M Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs141358977Ensembl.1
Natural variantiVAR_07529495V → I Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs140778208Ensembl.1
Natural variantiVAR_075295105R → Q Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs148838075EnsemblClinVar.1
Natural variantiVAR_075296106Q → P Disrupts enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs145817990EnsemblClinVar.1
Natural variantiVAR_071781110V → F in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs753198836EnsemblClinVar.1
Natural variantiVAR_071782135D → N in CCDS2. 1 PublicationCorresponds to variant dbSNP:rs774144200EnsemblClinVar.1
Natural variantiVAR_075297146T → R Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs149821870Ensembl.1
Natural variantiVAR_071783147H → Y in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs1371496558Ensembl.1
Natural variantiVAR_075298156A → D Disrupts enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs368221789Ensembl.1
Natural variantiVAR_075299157F → L Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs372260609EnsemblClinVar.1
Natural variantiVAR_071784159L → P in CCDS2; loss of activity. 1 Publication1
Natural variantiVAR_071785164G → D in CCDS2. 1 PublicationCorresponds to variant dbSNP:rs760101382EnsemblClinVar.1
Natural variantiVAR_071786166L → P in CCDS2; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs1483148182Ensembl.1
Natural variantiVAR_075300167T → I Disrupts enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs374762419Ensembl.1
Natural variantiVAR_071787169C → R in CCDS2. 1 Publication1
Natural variantiVAR_058106169C → Y in CCDS2; retains no significant activity. 2 PublicationsCorresponds to variant dbSNP:rs121909272EnsemblClinVar.1
Natural variantiVAR_075301196A → T Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs1355291180Ensembl.1
Natural variantiVAR_075302196A → V Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs565109128EnsemblClinVar.1
Natural variantiVAR_058107197L → P in CCDS2; loss of activity. 3 Publications1
Natural variantiVAR_071788208R → P in CCDS2; retains no significant activity. 1 PublicationCorresponds to variant dbSNP:rs767887772Ensembl.1
Natural variantiVAR_025723209T → M1 PublicationCorresponds to variant dbSNP:rs17851582EnsemblClinVar.1
Natural variantiVAR_075303224A → T Polymorphism; no effect on enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs141471799EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_042722191 – 236ETQVP…LVTKG → VRPPEVPHGSPGSDLGWGWE GAAGATLLPGEGPFLTPWVG WTVLVHLEIKVLCLAQWLPG AVAQVYNPSTVEGRGGQIA in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
Z49878 mRNA Translation: CAA90035.1
AF010248, AF010246, AF010247 Genomic DNA Translation: AAD04781.1
AF188893 Genomic DNA Translation: AAF01461.1
BT007034 mRNA Translation: AAP35682.1
AK289465 mRNA Translation: BAF82154.1
AC005329 Genomic DNA Translation: AAC27668.1
CH471139 Genomic DNA Translation: EAW69505.1
BC016760 mRNA Translation: AAH16760.1
BC017936 mRNA Translation: AAH17936.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12064.1 [Q14353-1]
CCDS45897.1 [Q14353-2]

Protein sequence database of the Protein Information Resource

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PIRi
S62732

NCBI Reference Sequences

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RefSeqi
NP_000147.1, NM_000156.5 [Q14353-1]
NP_620279.1, NM_138924.2 [Q14353-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.81131

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000252288; ENSP00000252288; ENSG00000130005 [Q14353-1]
ENST00000447102; ENSP00000403536; ENSG00000130005 [Q14353-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2593

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2593

UCSC genome browser

More...
UCSCi
uc002lsk.5 human [Q14353-1]

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
Z49878 mRNA Translation: CAA90035.1
AF010248, AF010246, AF010247 Genomic DNA Translation: AAD04781.1
AF188893 Genomic DNA Translation: AAF01461.1
BT007034 mRNA Translation: AAP35682.1
AK289465 mRNA Translation: BAF82154.1
AC005329 Genomic DNA Translation: AAC27668.1
CH471139 Genomic DNA Translation: EAW69505.1
BC016760 mRNA Translation: AAH16760.1
BC017936 mRNA Translation: AAH17936.1
CCDSiCCDS12064.1 [Q14353-1]
CCDS45897.1 [Q14353-2]
PIRiS62732
RefSeqiNP_000147.1, NM_000156.5 [Q14353-1]
NP_620279.1, NM_138924.2 [Q14353-2]
UniGeneiHs.81131

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ORHX-ray1.86A/B/C/D1-236[»]
ProteinModelPortaliQ14353
SMRiQ14353
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108865, 8 interactors
IntActiQ14353, 7 interactors
STRINGi9606.ENSP00000403536

Chemistry databases

DrugBankiDB00148 Creatine
DB00536 Guanidine
DB02751 N-[Amino(Imino)Methyl]Glycine
DB01752 S-Adenosyl-L-Homocysteine

PTM databases

iPTMnetiQ14353
PhosphoSitePlusiQ14353

Polymorphism and mutation databases

BioMutaiGAMT
DMDMi2498404

2D gel databases

OGPiQ14353

Proteomic databases

EPDiQ14353
jPOSTiQ14353
PaxDbiQ14353
PeptideAtlasiQ14353
PRIDEiQ14353
ProteomicsDBi59970
59971 [Q14353-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2593
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252288; ENSP00000252288; ENSG00000130005 [Q14353-1]
ENST00000447102; ENSP00000403536; ENSG00000130005 [Q14353-2]
GeneIDi2593
KEGGihsa:2593
UCSCiuc002lsk.5 human [Q14353-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2593
DisGeNETi2593
EuPathDBiHostDB:ENSG00000130005.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GAMT
GeneReviewsiGAMT

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0030201
HGNCiHGNC:4136 GAMT
HPAiHPA051806
MalaCardsiGAMT
MIMi601240 gene
612736 phenotype
neXtProtiNX_Q14353
OpenTargetsiENSG00000130005
Orphaneti382 Guanidinoacetate methyltransferase deficiency
PharmGKBiPA28549

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1709 Eukaryota
ENOG4110T2S LUCA
GeneTreeiENSGT00390000018061
HOGENOMiHOG000010290
HOVERGENiHBG005801
InParanoidiQ14353
KOiK00542
OMAiNHFDGIL
OrthoDBi1297303at2759
PhylomeDBiQ14353
TreeFamiTF328555

Enzyme and pathway databases

UniPathwayi
UPA00104;UER00580

BioCyciMetaCyc:HS05327-MONOMER
BRENDAi2.1.1.2 2681
ReactomeiR-HSA-71288 Creatine metabolism
R-HSA-8986944 Transcriptional Regulation by MECP2

Miscellaneous databases

EvolutionaryTraceiQ14353

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Guanidinoacetate_N-methyltransferase

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

More...
GenomeRNAii
2593

Protein Ontology

More...
PROi
PR:Q14353

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130005 Expressed in 194 organ(s), highest expression level in right lobe of liver
CleanExiHS_GAMT
ExpressionAtlasiQ14353 baseline and differential
GenevisibleiQ14353 HS

Family and domain databases

InterProiView protein in InterPro
IPR016550 GuanidinoAc_N-MeTrfase
IPR026480 RMT2_dom
IPR029063 SAM-dependent_MTases
PIRSFiPIRSF009285 GAMT, 1 hit
SUPFAMiSSF53335 SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS51559 SAM_RMT2, 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 nameiGAMT_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: Q14353
Secondary accession number(s): A8K0A0, Q53Y34, Q8WVJ1
<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: November 1, 1997
Last sequence update: November 1, 1996
Last modified: January 16, 2019
This is version 178 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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