UniProtKB - Q9UI17 (M2GD_HUMAN)

BLAST

>sp|Q9UI17|M2GD_HUMAN Dimethylglycine dehydrogenase, mitochondrial OS=Homo sapiens OX=9606 GN=DMGDH PE=1 SV=2
MLRPGAQLLRGLLLRSCPLQGSPGRPRSVCGREGEEKPPLSAETQWKDRAETVIIGGGCV
GVSLAYHLAKAGMKDVVLLEKSELTAGSTWHAAGLTTYFHPGINLKKIHYDSIKLYEKLE
EETGQVVGFHQPGSIRLATTPVRVDEFKYQMTRTGWHATEQYLIEPEKIQEMFPLLNMNK
VLAGLYNPGDGHIDPYSLTMALAAGARKCGALLKYPAPVTSLKARSDGTWDVETPQGSMR
ANRIVNAAGFWAREVGKMIGLEHPLIPVQHQYVVTSTISEVKALKRELPVLRDLEGSYYL
RQERDGLLFGPYESQEKMKVQDSWVTNGVPPGFGKELFESDLDRIMEHIKAAMEMVPVLK
KADIINVVNGPITYSPDILPMVGPHQGVRNYWVAIGFGYGIIHAGGVGKYLSDWILHGEP
PFDLIELDPNRYGKWTTTQYTEAKARESYGFNNIVGYPKEERFAGRPTQRVSGLYQRLES
KCSMGFHAGWEQPHWFYKPGQDTQYRPSFRRTNWFEPVGSEYKQVMQRVAVTDLSPFGKF
NIKGQDSIRLLDHLFANVIPKVGFTNISHMLTPKGRVYAELTVSHQSPGEFLLITGSGSE
LHDLRWIEEEAVKGGYDVEIKNITDELGVLGVAGPQARKVLQKLTSEDLSDDVFKFLQTK
SLKVSNIPVTAIRISYTGELGWELYHRREDSVALYDAIMNAGQEEGIDNFGTYAMNALRL
EKAFRAWGLEMNCDTNPLEAGLEYFVKLNKPADFIGKQALKQIKAKGLKRRLVCLTLATD
DVDPEGNESIWYNGKVVGNTTSGSYSYSIQKSLAFAYVPVQLSEVGQQVEVELLGKNYPA
VIIQEPLVLTEPTRNRLQKKGGKDKT

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History
Entry version 160 (12 Sep 2018)
Sequence version 2 (18 May 2010)
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Protein

Dimethylglycine dehydrogenase, mitochondrial

Gene

DMGDH

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro.1 Publication

Catalytic activityⁱ

N,N-dimethylglycine + 5,6,7,8-tetrahydrofolate + electron-transfer flavoprotein = sarcosine + 5,10-methylenetetrahydrofolate + reduced electron-transfer flavoprotein.1 Publication

Cofactorⁱ

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

Kineticsⁱ

kcat is 213 min(-1) for N,N-dimethylglycine.1 Publication

K_M=
1.4 mM for N,N-dimethylglycine
1 Publication
Manual assertion based on experiment inⁱ
- Ref.6
  "Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant."
  Augustin P., Hromic A., Pavkov-Keller T., Gruber K., Macheroux P.
  FEBS J. 283:3587-3603(2016) [PubMed] [Europe PMC] [Abstract]
  Cited for: X-RAY CRYSTALLOGRAPHY (3.09 ANGSTROMS) OF 29-866 IN COMPLEX WITH FAD, CHARACTERIZATION OF VARIANT DMGDHD ARG-109, FUNCTION, CATALYTIC ACTIVITY, COFACTOR, BIOPHYSICOCHEMICAL PROPERTIES, ENZYME KINETICS.

V_max=22.1 µmol/min/mg enzyme

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:

Betaine--homocysteine S-methyltransferase 1 (BHMT)
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 key	Position(s)	DescriptionActions	Length
Binding siteⁱ	219	FAD; via amide nitrogen and carbonyl oxygenCombined sources1 Publication	1
Binding siteⁱ	251	FADBy similarity	1
Binding siteⁱ	676	TetrahydrofolateBy similarity	1
Binding siteⁱ	744	TetrahydrofolateBy similarity	1

Regions

Feature key	Position(s)	DescriptionActions	Length
Nucleotide bindingⁱ	59 – 60	FADCombined sources1 Publication	2
Nucleotide bindingⁱ	80 – 81	FADCombined sources1 Publication	2
Nucleotide bindingⁱ	87 – 95	FADCombined sources1 Publication	9
Nucleotide bindingⁱ	397 – 402	FADCombined sources1 Publication	6

GO - Molecular functionⁱ

dimethylglycine dehydrogenase activity
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 11231903
electron transfer activity
Source: UniProtKB
Non-traceable author statementⁱ
- 10767172
RNA binding
Source: UniProtKB
Inferred from high throughput direct assayⁱ
- 22658674

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

amino-acid betaine catabolic process Source: UniProtKB-UniPathway
choline catabolic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 10102904
choline metabolic process
Source: UniProtKB
Non-traceable author statementⁱ
- 10767172

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Oxidoreductase
Ligand	FAD, Flavoprotein

Enzyme and pathway databases

BioCycⁱ	MetaCyc:HS05695-MONOMER
Reactomeⁱ	R-HSA-6798163 Choline catabolism
UniPathwayⁱ	UPA00291;UER00433

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Dimethylglycine dehydrogenase, mitochondrial (EC:1.5.8.41 Publication) Alternative name(s): ME2GLYDH
Gene namesⁱ	Name:DMGDH
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 5

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000132837.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:24475 DMGDH
MIMⁱ	605849 gene
neXtProtⁱ	NX_Q9UI17

Keywords - Cellular componentⁱ

Mitochondrion

Pathology & Biotechⁱ

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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	29958
MalaCards human disease database More...MalaCardsⁱ	DMGDH
MIMⁱ	605850 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000132837
Orphanetⁱ	243343 Dimethylglycine dehydrogenase deficiency
PharmGKBⁱ	PA134947212

Polymorphism and mutation databases

BioMutaⁱ	DMGDH
DMDMⁱ	296434575

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transit peptideⁱ	1 – 50	MitochondrionSequence analysisAdd BLAST		50
ChainⁱPRO_0000010767	51 – 866	Dimethylglycine dehydrogenase, mitochondrialAdd BLAST		816

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	91	Tele-8alpha-FAD histidineCombined sources1 Publication	1
Modified residueⁱ	114	N6-acetyllysineBy similarity	1
Modified residueⁱ	148	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	148	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	168	N6-acetyllysineBy similarity	1
Modified residueⁱ	223	N6-acetyllysineBy similarity	1
Modified residueⁱ	317	N6-succinyllysineBy similarity	1
Modified residueⁱ	319	N6-succinyllysineBy similarity	1
Modified residueⁱ	335	N6-acetyllysineBy similarity	1
Modified residueⁱ	360	N6-acetyllysineBy similarity	1
Modified residueⁱ	434	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	434	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	523	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	523	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	655	N6-acetyllysine; alternateBy similarity	1
Modified residueⁱ	655	N6-succinyllysine; alternateBy similarity	1
Modified residueⁱ	764	N6-acetyllysineBy similarity	1
Modified residueⁱ	795	N6-succinyllysineBy similarity	1

Keywords - PTMⁱ

Acetylation

Proteomic databases

PaxDbⁱ	Q9UI17
PeptideAtlas More...PeptideAtlasⁱ	Q9UI17
PRIDEⁱ	Q9UI17
ProteomicsDBⁱ	84455

PTM databases

CarbonylDBⁱ	Q9UI17
iPTMnetⁱ	Q9UI17
PhosphoSitePlusⁱ	Q9UI17

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000132837 Expressed in 138 organ(s), highest expression level in liver
CleanExⁱ	HS_DMGDH
ExpressionAtlasⁱ	Q9UI17 baseline and differential
Genevisibleⁱ	Q9UI17 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA036441 HPA036442 HPA077849

HPAⁱ

HPA036441
HPA036442
HPA077849

Interactionⁱ

Subunit structureⁱ

Monomer.

Protein-protein interaction databases

BioGridⁱ	118994, 1 interactor
STRINGⁱ	9606.ENSP00000255189

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	48 – 55	Combined sources	8
Helixⁱ	59 – 70	Combined sources	12
Beta strandⁱ	74 – 79	Combined sources	6
Beta strandⁱ	81 – 83	Combined sources	3
Turnⁱ	84 – 88	Combined sources	5
Helixⁱ	89 – 91	Combined sources	3
Beta strandⁱ	101 – 103	Combined sources	3
Helixⁱ	105 – 123	Combined sources	19
Beta strandⁱ	134 – 138	Combined sources	5
Helixⁱ	141 – 154	Combined sources	14
Beta strandⁱ	157 – 159	Combined sources	3
Beta strandⁱ	162 – 164	Combined sources	3
Helixⁱ	166 – 170	Combined sources	5
Beta strandⁱ	183 – 187	Combined sources	5
Helixⁱ	195 – 208	Combined sources	14
Beta strandⁱ	212 – 214	Combined sources	3
Beta strandⁱ	221 – 224	Combined sources	4
Beta strandⁱ	230 – 233	Combined sources	4
Beta strandⁱ	238 – 246	Combined sources	9
Helixⁱ	249 – 251	Combined sources	3
Helixⁱ	252 – 256	Combined sources	5
Helixⁱ	257 – 259	Combined sources	3
Beta strandⁱ	266 – 275	Combined sources	10
Helixⁱ	279 – 283	Combined sources	5
Beta strandⁱ	290 – 293	Combined sources	4
Turnⁱ	294 – 296	Combined sources	3
Beta strandⁱ	298 – 303	Combined sources	6
Beta strandⁱ	306 – 311	Combined sources	6
Turnⁱ	315 – 317	Combined sources	3
Helixⁱ	323 – 326	Combined sources	4
Helixⁱ	342 – 344	Combined sources	3
Helixⁱ	346 – 355	Combined sources	10
Helixⁱ	357 – 360	Combined sources	4
Beta strandⁱ	364 – 374	Combined sources	11
Beta strandⁱ	381 – 384	Combined sources	4
Beta strandⁱ	391 – 395	Combined sources	5
Helixⁱ	400 – 415	Combined sources	16
Turnⁱ	425 – 427	Combined sources	3
Helixⁱ	438 – 450	Combined sources	13
Helixⁱ	451 – 453	Combined sources	3
Helixⁱ	474 – 478	Combined sources	5
Helixⁱ	479 – 481	Combined sources	3
Beta strandⁱ	482 – 487	Combined sources	6
Beta strandⁱ	490 – 496	Combined sources	7
Helixⁱ	515 – 527	Combined sources	13
Beta strandⁱ	530 – 533	Combined sources	4
Beta strandⁱ	537 – 544	Combined sources	8
Helixⁱ	547 – 554	Combined sources	8
Beta strandⁱ	564 – 571	Combined sources	8
Beta strandⁱ	577 – 585	Combined sources	9
Beta strandⁱ	591 – 595	Combined sources	5
Helixⁱ	597 – 599	Combined sources	3
Helixⁱ	600 – 613	Combined sources	14
Beta strandⁱ	619 – 622	Combined sources	4
Turnⁱ	624 – 626	Combined sources	3
Beta strandⁱ	630 – 634	Combined sources	5
Helixⁱ	637 – 642	Combined sources	6
Turnⁱ	651 – 653	Combined sources	3
Beta strandⁱ	658 – 664	Combined sources	7
Beta strandⁱ	667 – 673	Combined sources	7
Beta strandⁱ	678 – 687	Combined sources	10
Helixⁱ	690 – 702	Combined sources	13
Turnⁱ	703 – 706	Combined sources	4
Helixⁱ	712 – 722	Combined sources	11
Turnⁱ	727 – 729	Combined sources	3
Turnⁱ	737 – 741	Combined sources	5
Helixⁱ	743 – 745	Combined sources	3
Beta strandⁱ	750 – 752	Combined sources	3
Helixⁱ	757 – 766	Combined sources	10
Beta strandⁱ	769 – 777	Combined sources	9
Beta strandⁱ	789 – 792	Combined sources	4
Beta strandⁱ	795 – 806	Combined sources	12
Turnⁱ	807 – 810	Combined sources	4
Beta strandⁱ	811 – 819	Combined sources	9
Helixⁱ	820 – 822	Combined sources	3
Beta strandⁱ	828 – 833	Combined sources	6
Beta strandⁱ	836 – 842	Combined sources	7
Turnⁱ	851 – 853	Combined sources	3

Show more details

3D structure databases

ProteinModelPortalⁱ	Q9UI17
SMRⁱ	Q9UI17
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	580 – 582	Tetrahydrofolate bindingBy similarity		3
Regionⁱ	683 – 685	Tetrahydrofolate bindingBy similarity		3

Sequence similaritiesⁱ

Belongs to the GcvT family.Curated

Keywords - Domainⁱ

Transit peptide

Phylogenomic databases

eggNOGⁱ	KOG2844 Eukaryota COG0404 LUCA COG0665 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000063120
HOGENOMⁱ	HOG000251716
HOVERGENⁱ	HBG081945
InParanoidⁱ	Q9UI17
KEGG Orthology (KO) More...KOⁱ	K00315
OMAⁱ	YESQEKM
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G01OO
PhylomeDBⁱ	Q9UI17
TreeFamⁱ	TF314735

Family and domain databases

Gene3Dⁱ	3.30.1360.120, 2 hits 3.50.50.60, 3 hits
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
SUPFAMⁱ	SSF101790 SSF101790, 1 hit SSF51905 SSF51905, 2 hits

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q9UI17-1) [UniParc]FASTA Add 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

Checksum:ⁱ2EC1FA7DCB6C1F8C

Isoform 2 (identifier: Q9UI17-2) [UniParc]FASTA Add 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.

« Hide

        10         20         30         40         50
MWSCWRNQSS RLDLPGTQYG IIHAGGVGKY LSDWILHGEP PFDLIELDPN 
        60         70         80         90        100
RYGKWTTTQY TEAKARESYG FNNIVGYPKE ERFAGRPTQR VSGLYQRLES 
       110        120        130        140        150
KCSMGFHAGW EQPHWFYKPG QDTQYRPSFR RTNWFEPVGS EYKQVMQRVA 
       160        170        180        190        200
VTDLSPFGKF NIKGQDSIRL LDHLFANVIP KVGFTNISHM LTPKGRVYAE 
       210        220        230        240        250
LTVSHQSPGE FLLITGSGSE LHDLRWIEEE AVKGGYDVEI KNITDELGVL 
       260        270        280        290        300
GVAGPQARKV LQKLTSEDLS DDVFKFLQTK SLKVSNIPVT AIRISYTGEL 
       310        320        330        340        350
GWELYHRRED SVALYDAIMN AGQEEGIDNF GTYAMNALRL EKAFRAWGLE 
       360        370        380        390 
MNCDTNPLEA GLEYFVKLNK DQNSCFAHFK EENGWVSRWA IRPY

Note: No experimental confirmation available.

Show »

Length:394

Mass (Da):45,079

Checksum:ⁱCA6DCA6EA8F01BCF

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

Q8TCC6	Q8TCC6_HUMAN	DMGDH protein DMGDH protein (Dimethylglycine dehydrogenase, mitochondrial)	DMGDH	613	Annotation score:
E5RK15	E5RK15_HUMAN	Dimethylglycine dehydrogenase, mito... Dimethylglycine dehydrogenase, mitochondrial	DMGDH	106	Annotation score:
E5RG50	E5RG50_HUMAN	Dimethylglycine dehydrogenase, mito... Dimethylglycine dehydrogenase, mitochondrial	DMGDH	98	Annotation score:
E5RGI4	E5RGI4_HUMAN	Dimethylglycine dehydrogenase, mito... Dimethylglycine dehydrogenase, mitochondrial	DMGDH	50	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	381	M → I in BAG37277 (PubMed:14702039).Curated		1
Sequence conflictⁱ	627	L → F in BAG37277 (PubMed:14702039).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_011505	109	H → 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_014950	279	S → P2 PublicationsCorresponds to variant dbSNP:rs532964Ensembl.	1
Natural variantⁱVAR_014951	530	A → G1 PublicationCorresponds to variant dbSNP:rs1805073EnsemblClinVar.	1
Natural variantⁱVAR_014952	646	S → PCombined sources1 PublicationCorresponds to variant dbSNP:rs1805074EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_056959	1 – 18	MLRPG…LRSCP → MWSCWRNQSSRLDLPGTQ in isoform 2. 1 PublicationAdd BLAST	18
Alternative sequenceⁱVSP_056960	19 – 398	Missing in isoform 2. 1 PublicationAdd BLAST	380
Alternative sequenceⁱVSP_056961	751 – 774	PADFI…RRLVC → DQNSCFAHFKEENGWVSRWA IRPY in isoform 2. 1 PublicationAdd BLAST	24
Alternative sequenceⁱVSP_056962	775 – 866	Missing in isoform 2. 1 PublicationAdd BLAST	92

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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS4044.1 [Q9UI17-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_037523.2, NM_013391.3 [Q9UI17-1]
UniGeneⁱ	Hs.655653

Genome annotation databases

Ensemblⁱ	ENST00000255189; ENSP00000255189; ENSG00000132837 [Q9UI17-1]
GeneIDⁱ	29958
KEGGⁱ	hsa:29958
UCSC genome browser More...UCSCⁱ	uc003kfs.5 human [Q9UI17-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9UI17	Uncharacterized protein		SHEEP		877	UniRef90_Q9UI17
Dimethylglycine dehydrogenase		MYOLU		876
Uncharacterized protein		RHIRO		871
dimethylglycine dehydrogenase, mitochondrial		Florida manatee		871
Uncharacterized protein		RHIBE		871
+134

Protein	Similar proteins		Species	Score	Length	Source
Q9UI17	Dimethylglycine dehydrogenase, mitochondrial		MOUSE		869	UniRef50_Q9UI17
Dimethylglycine dehydrogenase, mitochondrial	)	RAT		857
Uncharacterized protein		SHEEP		877
Dimethylglycine dehydrogenase		MYOLU		876
Uncharacterized protein		RHIRO		871
+481
Q9UI17-2	Dimethylglycine dehydrogenase, mitochondrial		FUNHE		456	UniRef50_Q9UI17-2
UPI0008FA6E19		CYPCA		421

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.
CCDSⁱ	CCDS4044.1 [Q9UI17-1]
RefSeqⁱ	NP_037523.2, NM_013391.3 [Q9UI17-1]
UniGeneⁱ	Hs.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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	5L46	X-ray	3.09	A/B	29-866	[»]
ProteinModelPortalⁱ	Q9UI17
SMRⁱ	Q9UI17
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	118994, 1 interactor
STRINGⁱ	9606.ENSP00000255189

PTM databases

CarbonylDBⁱ	Q9UI17
iPTMnetⁱ	Q9UI17
PhosphoSitePlusⁱ	Q9UI17

Polymorphism and mutation databases

BioMutaⁱ	DMGDH
DMDMⁱ	296434575

Proteomic databases

PaxDbⁱ	Q9UI17
PeptideAtlasⁱ	Q9UI17
PRIDEⁱ	Q9UI17
ProteomicsDBⁱ	84455

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	29958
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000255189; ENSP00000255189; ENSG00000132837 [Q9UI17-1]
GeneIDⁱ	29958
KEGGⁱ	hsa:29958
UCSCⁱ	uc003kfs.5 human [Q9UI17-1]

Organism-specific databases

CTDⁱ	29958
DisGeNETⁱ	29958
EuPathDBⁱ	HostDB:ENSG00000132837.14
GeneCardsⁱ	DMGDH
H-InvDBⁱ	HIX0200737
HGNCⁱ	HGNC:24475 DMGDH
HPAⁱ	HPA036441 HPA036442 HPA077849
MalaCardsⁱ	DMGDH
MIMⁱ	605849 gene 605850 phenotype
neXtProtⁱ	NX_Q9UI17
OpenTargetsⁱ	ENSG00000132837
Orphanetⁱ	243343 Dimethylglycine dehydrogenase deficiency
PharmGKBⁱ	PA134947212
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2844 Eukaryota COG0404 LUCA COG0665 LUCA
GeneTreeⁱ	ENSGT00530000063120
HOGENOMⁱ	HOG000251716
HOVERGENⁱ	HBG081945
InParanoidⁱ	Q9UI17
KOⁱ	K00315
OMAⁱ	YESQEKM
OrthoDBⁱ	EOG091G01OO
PhylomeDBⁱ	Q9UI17
TreeFamⁱ	TF314735

Enzyme and pathway databases

UniPathwayⁱ	UPA00291;UER00433
BioCycⁱ	MetaCyc:HS05695-MONOMER
Reactomeⁱ	R-HSA-6798163 Choline catabolism

Miscellaneous databases

GenomeRNAiⁱ	29958
Protein Ontology More...PROⁱ	PR:Q9UI17
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000132837 Expressed in 138 organ(s), highest expression level in liver
CleanExⁱ	HS_DMGDH
ExpressionAtlasⁱ	Q9UI17 baseline and differential
Genevisibleⁱ	Q9UI17 HS

Family and domain databases

Gene3Dⁱ	3.30.1360.120, 2 hits 3.50.50.60, 3 hits
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
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
SUPFAMⁱ	SSF101790 SSF101790, 1 hit SSF51905 SSF51905, 2 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	M2GD_HUMAN
Accessionⁱ	Q9UI17Primary (citable) accession number: Q9UI17 Secondary accession number(s): B2RBN0, B4E1J9
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
	Last sequence update:	May 18, 2010
	Last modified:	September 12, 2018
	This is version 160 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
PATHWAY comments
Index of metabolic and biosynthesis pathways
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniProtKB - Q9UI17 (M2GD_HUMAN)

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Dimethylglycine dehydrogenase, mitochondrial

DMGDH

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<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

<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

<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

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Regions

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GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Mitochondrion

Mitochondrion

Keywords - Cellular componenti

<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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

Protein-protein interaction databases

<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

3D structure databases

<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

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

Kineticsⁱ

Pathwayⁱ: betaine degradation

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ