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Protein

Aminomethyltransferase, mitochondrial

Gene

AMT

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

The glycine cleavage system catalyzes the degradation of glycine.1 Publication

<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

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 sitei232Substrate1 Publication1
Binding sitei261Substrate1 Publication1
Binding sitei399Substrate1 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

  • aminomethyltransferase activity Source: UniProtKB
  • transaminase activity Source: UniProtKB-KW

GO - Biological processi

  • glycine catabolic process Source: ProtInc
  • glycine decarboxylation via glycine cleavage system Source: UniProtKB

<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 functionAminotransferase, Transferase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS07223-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.1.2.10 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6783984 Glycine degradation

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P48728

<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:
Aminomethyltransferase, mitochondrialCurated (EC:2.1.2.101 Publication)
Alternative name(s):
Glycine cleavage system T protein1 Publication
Short name:
GCVT
<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:AMTImported
Synonyms:GCSTImported
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000145020.14

Human Gene Nomenclature Database

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HGNCi
HGNC:473 AMT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
238310 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P48728

<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

Keywords - Cellular componenti

Mitochondrion

<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

Non-ketotic hyperglycinemia (NKH)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.
See also OMIM:605899
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_00795142H → R in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964983EnsemblClinVar.1
Natural variantiVAR_00795247G → R in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964982EnsemblClinVar.1
Natural variantiVAR_07879494R → W in NKH. 1 PublicationCorresponds to variant dbSNP:rs1126422EnsemblClinVar.1
Natural variantiVAR_016847145N → I in NKH; loss of aminomethyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs386833682EnsemblClinVar.1
Natural variantiVAR_016848211E → K in NKH. 1 PublicationCorresponds to variant dbSNP:rs116192290EnsemblClinVar.1
Natural variantiVAR_078795222R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs781466698EnsemblClinVar.1
Natural variantiVAR_074107265R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs779483959EnsemblClinVar.1
Natural variantiVAR_007953269G → D in NKH; decreased aminomethyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs121964981EnsemblClinVar.1
Natural variantiVAR_007954276D → H in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964984EnsemblClinVar.1
Natural variantiVAR_078796296R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs1056820947Ensembl.1
Natural variantiVAR_007955320R → H in NKH; loss of aminomethyltransferase activity. 4 PublicationsCorresponds to variant dbSNP:rs121964985EnsemblClinVar.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>Mutagenesisi129D → A or N: Loss of aminomethyltransferase activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
275

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

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GeneReviewsi
AMT

MalaCards human disease database

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MalaCardsi
AMT
MIMi605899 phenotype

Open Targets

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OpenTargetsi
ENSG00000145020

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

More...
Orphaneti
289863 Atypical glycine encephalopathy
289860 Infantile glycine encephalopathy
289857 Neonatal glycine encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24780

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB04789 5-methyltetrahydrofolic acid
DB00157 NADH
DB00116 Tetrahydrofolic acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AMT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1346122

<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 – 28MitochondrionBy similarityAdd BLAST28
<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_000001075529 – 403Aminomethyltransferase, mitochondrialAdd BLAST375

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P48728

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P48728

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

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PaxDbi
P48728

PeptideAtlas

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PeptideAtlasi
P48728

PRoteomics IDEntifications database

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PRIDEi
P48728

ProteomicsDB human proteome resource

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ProteomicsDBi
55925
55926 [P48728-2]
55927 [P48728-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P48728

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

More...
PhosphoSitePlusi
P48728

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000145020 Expressed in 217 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

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CleanExi
HS_AMT

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P48728 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P48728 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA005566

<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

The glycine cleavage system is composed of four proteins: P, T, L and H.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106772, 2 interactors

Protein interaction database and analysis system

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IntActi
P48728, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000273588

<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

1403
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P48728

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

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SMRi
P48728

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
P48728

<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 information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GcvT family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2770 Eukaryota
COG0404 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157524

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000239380

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005822

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P48728

KEGG Orthology (KO)

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KOi
K00605

Identification of Orthologs from Complete Genome Data

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OMAi
MPVQYPA

Database of Orthologous Groups

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OrthoDBi
EOG091G07Z1

Database for complete collections of gene phylogenies

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PhylomeDBi
P48728

TreeFam database of animal gene trees

More...
TreeFami
TF313026

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.1360.120, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006223 GCS_T
IPR028896 GCST/YgfZ/DmdA
IPR013977 GCV_T_C
IPR006222 GCV_T_N
IPR029043 GcvT/YgfZ_C
IPR027266 TrmE/GcvT_dom1

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01571 GCV_T, 1 hit
PF08669 GCV_T_C, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF006487 GcvT, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF101790 SSF101790, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00528 gcvT, 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 (4+)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 4 <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 4 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48728-1) [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
MQRAVSVVAR LGFRLQAFPP ALCRPLSCAQ EVLRRTPLYD FHLAHGGKMV
60 70 80 90 100
AFAGWSLPVQ YRDSHTDSHL HTRQHCSLFD VSHMLQTKIL GSDRVKLMES
110 120 130 140 150
LVVGDIAELR PNQGTLSLFT NEAGGILDDL IVTNTSEGHL YVVSNAGCWE
160 170 180 190 200
KDLALMQDKV RELQNQGRDV GLEVLDNALL ALQGPTAAQV LQAGVADDLR
210 220 230 240 250
KLPFMTSAVM EVFGVSGCRV TRCGYTGEDG VEISVPVAGA VHLATAILKN
260 270 280 290 300
PEVKLAGLAA RDSLRLEAGL CLYGNDIDEH TTPVEGSLSW TLGKRRRAAM
310 320 330 340 350
DFPGAKVIVP QLKGRVQRRR VGLMCEGAPM RAHSPILNME GTKIGTVTSG
360 370 380 390 400
CPSPSLKKNV AMGYVPCEYS RPGTMLLVEV RRKQQMAVVS KMPFVPTNYY

TLK
Length:403
Mass (Da):43,946
Last modified:February 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:i218DC9EEADFA9102
GO
Isoform 2 (identifier: P48728-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     30-85: Missing.

Note: No experimental confirmation available.
Show »
Length:347
Mass (Da):37,434
Checksum:i4C99E4B0F9C76299
GO
Isoform 3 (identifier: P48728-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-156: Missing.

Note: No experimental confirmation available.
Show »
Length:359
Mass (Da):39,267
Checksum:iB1DA25DDC565ECB8
GO
Isoform 4 (identifier: P48728-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     380-403: VRRKQQMAVVSKMPFVPTNYYTLK → LPSGPCF

Note: No experimental confirmation available.
Show »
Length:386
Mass (Da):41,780
Checksum:i3938EB3D01A8846B
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 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y695H0Y695_HUMAN
Aminomethyltransferase
AMT hCG_2001997
338Annotation score:

Annotation score:3 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>
B3KTU4B3KTU4_HUMAN
Aminomethyltransferase
AMT
355Annotation score:

Annotation score:3 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>
A0A1B0GTB6A0A1B0GTB6_HUMAN
Aminomethyltransferase
AMT
321Annotation score:

Annotation score:3 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>
A0A1B0GVP5A0A1B0GVP5_HUMAN
Aminomethyltransferase
AMT
351Annotation score:

Annotation score:3 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>
A0A1B0GTV8A0A1B0GTV8_HUMAN
Aminomethyltransferase
AMT
351Annotation score:

Annotation score:3 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>
A0A1B0GTM2A0A1B0GTM2_HUMAN
Aminomethyltransferase
AMT
376Annotation score:

Annotation score:2 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>
A0A1B0GUU7A0A1B0GUU7_HUMAN
Aminomethyltransferase, mitochondri...
AMT
242Annotation 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>
F8WF62F8WF62_HUMAN
Aminomethyltransferase, mitochondri...
AMT
119Annotation 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>
A0A1B0GTA8A0A1B0GTA8_HUMAN
Aminomethyltransferase, mitochondri...
AMT
359Annotation 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>
A0A1B0GU55A0A1B0GU55_HUMAN
Aminomethyltransferase, mitochondri...
AMT
226Annotation 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>
There are more potential isoformsShow all

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 conflicti95V → C in BAA03512 (PubMed:8188235).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00795142H → R in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964983EnsemblClinVar.1
Natural variantiVAR_00795247G → R in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964982EnsemblClinVar.1
Natural variantiVAR_07879494R → W in NKH. 1 PublicationCorresponds to variant dbSNP:rs1126422EnsemblClinVar.1
Natural variantiVAR_016847145N → I in NKH; loss of aminomethyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs386833682EnsemblClinVar.1
Natural variantiVAR_016848211E → K in NKH. 1 PublicationCorresponds to variant dbSNP:rs116192290EnsemblClinVar.1
Natural variantiVAR_078795222R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs781466698EnsemblClinVar.1
Natural variantiVAR_074107265R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs779483959EnsemblClinVar.1
Natural variantiVAR_007953269G → D in NKH; decreased aminomethyltransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs121964981EnsemblClinVar.1
Natural variantiVAR_007954276D → H in NKH. 1 PublicationCorresponds to variant dbSNP:rs121964984EnsemblClinVar.1
Natural variantiVAR_078796296R → C in NKH. 1 PublicationCorresponds to variant dbSNP:rs1056820947Ensembl.1
Natural variantiVAR_007955320R → H in NKH; loss of aminomethyltransferase activity. 4 PublicationsCorresponds to variant dbSNP:rs121964985EnsemblClinVar.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_04255730 – 85Missing in isoform 2. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_043288113 – 156Missing in isoform 3. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_045418380 – 403VRRKQ…YYTLK → LPSGPCF in isoform 4. 1 PublicationAdd BLAST24

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
D13811 mRNA Translation: BAA02967.1
D14686 Genomic DNA Translation: BAA03512.1
AK290600 mRNA Translation: BAF83289.1
AK293481 mRNA Translation: BAG56972.1
AK296177 mRNA Translation: BAG58912.1
AC104452 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64984.1
BC007546 mRNA Translation: AAH07546.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS2797.1 [P48728-1]
CCDS54583.1 [P48728-2]
CCDS54584.1 [P48728-3]
CCDS54585.1 [P48728-4]

Protein sequence database of the Protein Information Resource

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PIRi
I54192

NCBI Reference Sequences

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RefSeqi
NP_000472.2, NM_000481.3 [P48728-1]
NP_001158182.1, NM_001164710.1 [P48728-3]
NP_001158183.1, NM_001164711.1 [P48728-2]
NP_001158184.1, NM_001164712.1 [P48728-4]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.102

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000273588; ENSP00000273588; ENSG00000145020 [P48728-1]
ENST00000395338; ENSP00000378747; ENSG00000145020 [P48728-4]
ENST00000458307; ENSP00000415619; ENSG00000145020 [P48728-3]
ENST00000636522; ENSP00000489758; ENSG00000145020 [P48728-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
275

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:275

UCSC genome browser

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UCSCi
uc003cww.4 human [P48728-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
D13811 mRNA Translation: BAA02967.1
D14686 Genomic DNA Translation: BAA03512.1
AK290600 mRNA Translation: BAF83289.1
AK293481 mRNA Translation: BAG56972.1
AK296177 mRNA Translation: BAG58912.1
AC104452 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64984.1
BC007546 mRNA Translation: AAH07546.2
CCDSiCCDS2797.1 [P48728-1]
CCDS54583.1 [P48728-2]
CCDS54584.1 [P48728-3]
CCDS54585.1 [P48728-4]
PIRiI54192
RefSeqiNP_000472.2, NM_000481.3 [P48728-1]
NP_001158182.1, NM_001164710.1 [P48728-3]
NP_001158183.1, NM_001164711.1 [P48728-2]
NP_001158184.1, NM_001164712.1 [P48728-4]
UniGeneiHs.102

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
1WSRX-ray2.00A/B29-403[»]
1WSVX-ray2.60A/B29-403[»]
ProteinModelPortaliP48728
SMRiP48728
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106772, 2 interactors
IntActiP48728, 3 interactors
STRINGi9606.ENSP00000273588

Chemistry databases

DrugBankiDB04789 5-methyltetrahydrofolic acid
DB00157 NADH
DB00116 Tetrahydrofolic acid

PTM databases

iPTMnetiP48728
PhosphoSitePlusiP48728

Polymorphism and mutation databases

BioMutaiAMT
DMDMi1346122

Proteomic databases

EPDiP48728
MaxQBiP48728
PaxDbiP48728
PeptideAtlasiP48728
PRIDEiP48728
ProteomicsDBi55925
55926 [P48728-2]
55927 [P48728-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273588; ENSP00000273588; ENSG00000145020 [P48728-1]
ENST00000395338; ENSP00000378747; ENSG00000145020 [P48728-4]
ENST00000458307; ENSP00000415619; ENSG00000145020 [P48728-3]
ENST00000636522; ENSP00000489758; ENSG00000145020 [P48728-2]
GeneIDi275
KEGGihsa:275
UCSCiuc003cww.4 human [P48728-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
275
DisGeNETi275
EuPathDBiHostDB:ENSG00000145020.14

GeneCards: human genes, protein and diseases

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GeneCardsi
AMT
GeneReviewsiAMT
HGNCiHGNC:473 AMT
HPAiHPA005566
MalaCardsiAMT
MIMi238310 gene
605899 phenotype
neXtProtiNX_P48728
OpenTargetsiENSG00000145020
Orphaneti289863 Atypical glycine encephalopathy
289860 Infantile glycine encephalopathy
289857 Neonatal glycine encephalopathy
PharmGKBiPA24780

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2770 Eukaryota
COG0404 LUCA
GeneTreeiENSGT00940000157524
HOGENOMiHOG000239380
HOVERGENiHBG005822
InParanoidiP48728
KOiK00605
OMAiMPVQYPA
OrthoDBiEOG091G07Z1
PhylomeDBiP48728
TreeFamiTF313026

Enzyme and pathway databases

BioCyciMetaCyc:HS07223-MONOMER
BRENDAi2.1.2.10 2681
ReactomeiR-HSA-6783984 Glycine degradation
SABIO-RKiP48728

Miscellaneous databases

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

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ChiTaRSi
AMT human
EvolutionaryTraceiP48728

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

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GenomeRNAii
275

Protein Ontology

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PROi
PR:P48728

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000145020 Expressed in 217 organ(s), highest expression level in right uterine tube
CleanExiHS_AMT
ExpressionAtlasiP48728 baseline and differential
GenevisibleiP48728 HS

Family and domain databases

Gene3Di3.30.1360.120, 1 hit
InterProiView protein in InterPro
IPR006223 GCS_T
IPR028896 GCST/YgfZ/DmdA
IPR013977 GCV_T_C
IPR006222 GCV_T_N
IPR029043 GcvT/YgfZ_C
IPR027266 TrmE/GcvT_dom1
PfamiView protein in Pfam
PF01571 GCV_T, 1 hit
PF08669 GCV_T_C, 1 hit
PIRSFiPIRSF006487 GcvT, 1 hit
SUPFAMiSSF101790 SSF101790, 1 hit
TIGRFAMsiTIGR00528 gcvT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiGCST_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: P48728
Secondary accession number(s): A8K3I5
, B4DE61, B4DJQ0, E9PBG1, Q96IG6
<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: February 1, 1996
Last sequence update: February 1, 1996
Last modified: December 5, 2018
This is version 174 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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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