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UniProtKB - Q9UI17 (M2GD_HUMAN)

Protein

Dimethylglycine dehydrogenase, mitochondrial

Gene

DMGDH

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 demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro.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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

FAD1 PublicationNote: Binds 1 FAD covalently per monomer.1 Publication

<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

kcat is 213 min(-1) for N,N-dimethylglycine.1 Publication
  1. KM=1.4 mM for N,N-dimethylglycine1 Publication
  1. Vmax=22.1 µmol/min/mg enzyme

<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: betaine degradation

This protein is involved in step 2 of the subpathway that synthesizes sarcosine from betaine.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Betaine--homocysteine S-methyltransferase 1 (BHMT)
  2. Dimethylglycine dehydrogenase, mitochondrial (DMGDH)
This subpathway is part of the pathway betaine degradation, which is itself part of Amine and polyamine degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes sarcosine from betaine, the pathway betaine degradation and in Amine and polyamine degradation.

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 sitei219FAD; via amide nitrogen and carbonyl oxygenCombined sources1 Publication1
Binding sitei251FADBy similarity1
Binding sitei676TetrahydrofolateBy similarity1
Binding sitei744TetrahydrofolateBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi59 – 60FADCombined sources1 Publication2
Nucleotide bindingi80 – 81FADCombined sources1 Publication2
Nucleotide bindingi87 – 95FADCombined sources1 Publication9
Nucleotide bindingi397 – 402FADCombined sources1 Publication6

<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

  • dimethylglycine dehydrogenase activity Source: UniProtKB
  • electron transfer activity Source: UniProtKB
  • oxidoreductase activity Source: GO_Central
  • RNA binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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 functionOxidoreductase
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS05695-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6798163 Choline catabolism

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

More...UniPathwayi
UPA00291;UER00433

<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:
Dimethylglycine dehydrogenase, mitochondrial (EC:1.5.8.41 Publication)
Alternative name(s):
ME2GLYDH
<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:DMGDH
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000132837.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:24475 DMGDH

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605849 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UI17

<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

DMGDH deficiency (DMGDHD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDisorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine.
See also OMIM:605850
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_011505109H → R in DMGDHD; shows 10 fold lower catalytic efficiency due to lower cofactor saturation and reduced thermal stability. 2 PublicationsCorresponds to variant dbSNP:rs121908331EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		29958

MalaCards human disease database

More...MalaCardsi		DMGDH
MIMi605850 phenotype

Open Targets

More...OpenTargetsi		ENSG00000132837

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

More...Orphaneti		243343 Dimethylglycine dehydrogenase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134947212

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DMGDH

Domain mapping of disease mutations (DMDM)

More...DMDMi		296434575

<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 – 50MitochondrionSequence analysisAdd BLAST50
<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_000001076751 – 866Dimethylglycine dehydrogenase, mitochondrialAdd BLAST816

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 residuei91Tele-8alpha-FAD histidineCombined sources1 Publication1
Modified residuei114N6-acetyllysineBy similarity1
Modified residuei148N6-acetyllysine; alternateBy similarity1
Modified residuei148N6-succinyllysine; alternateBy similarity1
Modified residuei168N6-acetyllysineBy similarity1
Modified residuei223N6-acetyllysineBy similarity1
Modified residuei317N6-succinyllysineBy similarity1
Modified residuei319N6-succinyllysineBy similarity1
Modified residuei335N6-acetyllysineBy similarity1
Modified residuei360N6-acetyllysineBy similarity1
Modified residuei434N6-acetyllysine; alternateBy similarity1
Modified residuei434N6-succinyllysine; alternateBy similarity1
Modified residuei523N6-acetyllysine; alternateBy similarity1
Modified residuei523N6-succinyllysine; alternateBy similarity1
Modified residuei655N6-acetyllysine; alternateBy similarity1
Modified residuei655N6-succinyllysine; alternateBy similarity1
Modified residuei764N6-acetyllysineBy similarity1
Modified residuei795N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

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

More...PaxDbi		Q9UI17

PeptideAtlas

More...PeptideAtlasi		Q9UI17

PRoteomics IDEntifications database

More...PRIDEi		Q9UI17

ProteomicsDB human proteome resource

More...ProteomicsDBi		84455

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q9UI17

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UI17

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

More...PhosphoSitePlusi		Q9UI17

<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

More...Bgeei		ENSG00000132837 Expressed in 138 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...CleanExi		HS_DMGDH

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UI17 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UI17 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA036441
HPA036442
HPA077849

<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.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		118994, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000255189

<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

1866
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9UI17

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

More...SMRi		Q9UI17

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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

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>Regioni580 – 582Tetrahydrofolate bindingBy similarity3
Regioni683 – 685Tetrahydrofolate bindingBy similarity3

<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

More...eggNOGi		KOG2844 Eukaryota
COG0404 LUCA
COG0665 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158176

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000251716

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG081945

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UI17

KEGG Orthology (KO)

More...KOi		K00315

Identification of Orthologs from Complete Genome Data

More...OMAi		RIMEHVE

Database of Orthologous Groups

More...OrthoDBi		EOG091G01OO

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UI17

TreeFam database of animal gene trees

More...TreeFami		TF314735

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.1360.120, 1 hit
3.50.50.60, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006076 FAD-dep_OxRdtase
IPR036188 FAD/NAD-bd_sf
IPR032503 FAO_M
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
PF01266 DAO, 1 hit
PF16350 FAO_M, 1 hit
PF01571 GCV_T, 1 hit
PF08669 GCV_T_C, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF101790 SSF101790, 1 hit
SSF51905 SSF51905, 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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UI17-1) [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
MLRPGAQLLR GLLLRSCPLQ GSPGRPRSVC GREGEEKPPL SAETQWKDRA 
        60         70         80         90        100
ETVIIGGGCV GVSLAYHLAK AGMKDVVLLE KSELTAGSTW HAAGLTTYFH 
       110        120        130        140        150
PGINLKKIHY DSIKLYEKLE EETGQVVGFH QPGSIRLATT PVRVDEFKYQ 
       160        170        180        190        200
MTRTGWHATE QYLIEPEKIQ EMFPLLNMNK VLAGLYNPGD GHIDPYSLTM 
       210        220        230        240        250
ALAAGARKCG ALLKYPAPVT SLKARSDGTW DVETPQGSMR ANRIVNAAGF 
       260        270        280        290        300
WAREVGKMIG LEHPLIPVQH QYVVTSTISE VKALKRELPV LRDLEGSYYL 
       310        320        330        340        350
RQERDGLLFG PYESQEKMKV QDSWVTNGVP PGFGKELFES DLDRIMEHIK 
       360        370        380        390        400
AAMEMVPVLK KADIINVVNG PITYSPDILP MVGPHQGVRN YWVAIGFGYG 
       410        420        430        440        450
IIHAGGVGKY LSDWILHGEP PFDLIELDPN RYGKWTTTQY TEAKARESYG 
       460        470        480        490        500
FNNIVGYPKE ERFAGRPTQR VSGLYQRLES KCSMGFHAGW EQPHWFYKPG 
       510        520        530        540        550
QDTQYRPSFR RTNWFEPVGS EYKQVMQRVA VTDLSPFGKF NIKGQDSIRL 
       560        570        580        590        600
LDHLFANVIP KVGFTNISHM LTPKGRVYAE LTVSHQSPGE FLLITGSGSE 
       610        620        630        640        650
LHDLRWIEEE AVKGGYDVEI KNITDELGVL GVAGPQARKV LQKLTSEDLS 
       660        670        680        690        700
DDVFKFLQTK SLKVSNIPVT AIRISYTGEL GWELYHRRED SVALYDAIMN 
       710        720        730        740        750
AGQEEGIDNF GTYAMNALRL EKAFRAWGLE MNCDTNPLEA GLEYFVKLNK 
       760        770        780        790        800
PADFIGKQAL KQIKAKGLKR RLVCLTLATD DVDPEGNESI WYNGKVVGNT 
       810        820        830        840        850
TSGSYSYSIQ KSLAFAYVPV QLSEVGQQVE VELLGKNYPA VIIQEPLVLT 
       860 
EPTRNRLQKK GGKDKT
Length:866
Mass (Da):96,811
Last modified:May 18, 2010 - v2
<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:i2EC1FA7DCB6C1F8C
GO
Isoform 2 (identifier: Q9UI17-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: MLRPGAQLLRGLLLRSCP → MWSCWRNQSSRLDLPGTQ
     19-398: Missing.
     751-774: PADFIGKQALKQIKAKGLKRRLVC → DQNSCFAHFKEENGWVSRWAIRPY
     775-866: Missing.

Note: No experimental confirmation available.
Show »
Length:394
Mass (Da):45,079
Checksum:iCA6DCA6EA8F01BCF
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q8TCC6Q8TCC6_HUMAN
DMGDH protein
DMGDH
613Annotation 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>
E5RG50E5RG50_HUMAN
Dimethylglycine dehydrogenase, mito...
DMGDH
98Annotation 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>
E5RK15E5RK15_HUMAN
Dimethylglycine dehydrogenase, mito...
DMGDH
106Annotation 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>
E5RGI4E5RGI4_HUMAN
Dimethylglycine dehydrogenase, mito...
DMGDH
50Annotation 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>

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 conflicti381M → I in BAG37277 (PubMed:14702039).Curated1
Sequence conflicti627L → F in BAG37277 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011505109H → R in DMGDHD; shows 10 fold lower catalytic efficiency due to lower cofactor saturation and reduced thermal stability. 2 PublicationsCorresponds to variant dbSNP:rs121908331EnsemblClinVar.1
Natural variantiVAR_014950279S → P2 PublicationsCorresponds to variant dbSNP:rs532964Ensembl.1
Natural variantiVAR_014951530A → G1 PublicationCorresponds to variant dbSNP:rs1805073EnsemblClinVar.1
Natural variantiVAR_014952646S → PCombined sources1 PublicationCorresponds to variant dbSNP:rs1805074EnsemblClinVar.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_0569591 – 18MLRPG…LRSCP → MWSCWRNQSSRLDLPGTQ in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_05696019 – 398Missing in isoform 2. 1 PublicationAdd BLAST380
Alternative sequenceiVSP_056961751 – 774PADFI…RRLVC → DQNSCFAHFKEENGWVSRWA IRPY in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_056962775 – 866Missing in isoform 2. 1 PublicationAdd BLAST92

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
AF111858 mRNA Translation: AAF21941.1
AK303873 mRNA Translation: BAG64811.1
AK314736 mRNA Translation: BAG37277.1
AC008502 Genomic DNA No translation available.
AC016559 Genomic DNA No translation available.
AC020937 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4044.1 [Q9UI17-1]

NCBI Reference Sequences

More...RefSeqi		NP_037523.2, NM_013391.3 [Q9UI17-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.655653

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000255189; ENSP00000255189; ENSG00000132837 [Q9UI17-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		29958

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:29958

UCSC genome browser

More...UCSCi		uc003kfs.5 human [Q9UI17-1]

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
AF111858 mRNA Translation: AAF21941.1
AK303873 mRNA Translation: BAG64811.1
AK314736 mRNA Translation: BAG37277.1
AC008502 Genomic DNA No translation available.
AC016559 Genomic DNA No translation available.
AC020937 Genomic DNA No translation available.
CCDSiCCDS4044.1 [Q9UI17-1]
RefSeqiNP_037523.2, NM_013391.3 [Q9UI17-1]
UniGeneiHs.655653

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
5L46X-ray3.09A/B29-866[»]
ProteinModelPortaliQ9UI17
SMRiQ9UI17
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118994, 1 interactor
STRINGi9606.ENSP00000255189

PTM databases

CarbonylDBiQ9UI17
iPTMnetiQ9UI17
PhosphoSitePlusiQ9UI17

Polymorphism and mutation databases

BioMutaiDMGDH
DMDMi296434575

Proteomic databases

PaxDbiQ9UI17
PeptideAtlasiQ9UI17
PRIDEiQ9UI17
ProteomicsDBi84455

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		29958
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255189; ENSP00000255189; ENSG00000132837 [Q9UI17-1]
GeneIDi29958
KEGGihsa:29958
UCSCiuc003kfs.5 human [Q9UI17-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		29958
DisGeNETi29958
EuPathDBiHostDB:ENSG00000132837.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		DMGDH

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0200737
HGNCiHGNC:24475 DMGDH
HPAiHPA036441
HPA036442
HPA077849
MalaCardsiDMGDH
MIMi605849 gene
605850 phenotype
neXtProtiNX_Q9UI17
OpenTargetsiENSG00000132837
Orphaneti243343 Dimethylglycine dehydrogenase deficiency
PharmGKBiPA134947212

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2844 Eukaryota
COG0404 LUCA
COG0665 LUCA
GeneTreeiENSGT00940000158176
HOGENOMiHOG000251716
HOVERGENiHBG081945
InParanoidiQ9UI17
KOiK00315
OMAiRIMEHVE
OrthoDBiEOG091G01OO
PhylomeDBiQ9UI17
TreeFamiTF314735

Enzyme and pathway databases

UniPathwayi
UPA00291;UER00433

BioCyciMetaCyc:HS05695-MONOMER
ReactomeiR-HSA-6798163 Choline catabolism

Miscellaneous databases

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

More...GenomeRNAii		29958

Protein Ontology

More...PROi		PR:Q9UI17

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000132837 Expressed in 138 organ(s), highest expression level in liver
CleanExiHS_DMGDH
ExpressionAtlasiQ9UI17 baseline and differential
GenevisibleiQ9UI17 HS

Family and domain databases

Gene3Di3.30.1360.120, 1 hit
3.50.50.60, 1 hit
InterProiView protein in InterPro
IPR006076 FAD-dep_OxRdtase
IPR036188 FAD/NAD-bd_sf
IPR032503 FAO_M
IPR013977 GCV_T_C
IPR006222 GCV_T_N
IPR029043 GcvT/YgfZ_C
IPR027266 TrmE/GcvT_dom1
PfamiView protein in Pfam
PF01266 DAO, 1 hit
PF16350 FAO_M, 1 hit
PF01571 GCV_T, 1 hit
PF08669 GCV_T_C, 1 hit
SUPFAMiSSF101790 SSF101790, 1 hit
SSF51905 SSF51905, 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 nameiM2GD_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: Q9UI17
Secondary accession number(s): B2RBN0, B4E1J9
<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: December 1, 2000
Last sequence update: May 18, 2010
Last modified: December 5, 2018
This is version 162 of the entry and version 2 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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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