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Reviewed, UniProtKB/Swiss-Prot Q9UI17 (M2GD_HUMAN)

Last modified March 3, 2009. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Dimethylglycine dehydrogenase, mitochondrial
    EC=1.5.99.2
Alternative name(s):
    ME2GLYDH
Gene names
Name: DMGDH
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length866 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Catalytic activity

N,N-dimethylglycine + acceptor + H2O = sarcosine + formaldehyde + reduced acceptor.

Cofactor

Binds 1 FAD covalently per monomer.

Pathway

Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.

Subunit structure

Monomer.

Subcellular location

Mitochondrion.

Involvement in disease

Defects in DMGDH are the cause of DMGDH deficiency (DMGDHD) [MIM:605850]. DMGDHD is a disorder 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. Ref.2 Ref.3

Sequence similarities

Belongs to the gcvT family.

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Ontologies

Keywords
   Cellular componentMitochondrion
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransit peptide
   LigandFAD
Flavoprotein
   Molecular functionOxidoreductase
Gene Ontology (GO)
   Biological processcholine metabolic process Ref.1

Non-traceable author statement. Source: UniProtKB

glycine catabolic process

Inferred from electronic annotation. Source: InterPro

oxidation reduction

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentmitochondrial matrix Ref.1

Non-traceable author statement. Source: UniProtKB

   Molecular functionaminomethyltransferase activity

Inferred from electronic annotation. Source: InterPro

dimethylglycine dehydrogenase activity Ref.2

Inferred from mutant phenotype. Source: UniProtKB

electron carrier activity Ref.1

Non-traceable author statement. Source: UniProtKB

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 5050Mitochondrion Potential
Chain51 – 866816Dimethylglycine dehydrogenase, mitochondrial
PRO_0000010767

Amino acid modifications

Modified residue911Pros-8alpha-FAD histidine By similarity

Natural variations

Natural variant1091H → R in DMGDHD. Ref.2
VAR_011505
Natural variant2791S → P: dbSNP rs532964. Ref.1
VAR_014950
Natural variant5301G → A: dbSNP rs1805073. Ref.1
VAR_014951
Natural variant6461P → S: dbSNP rs1805074. Ref.1
VAR_014952

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Sequences

Sequence LengthMass (Da)Tools
Q9UI17-1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 546E1FC1656AC044

FASTA86696,807
        10         20         30         40         50         60 
MLRPGAQLLR GLLLRSCPLQ GSPGRPRSVC GREGEEKPPL SAETQWKDRA ETVIIGGGCV 

        70         80         90        100        110        120 
GVSLAYHLAK AGMKDVVLLE KSELTAGSTW HAAGLTTYFH PGINLKKIHY DSIKLYEKLE 

       130        140        150        160        170        180 
EETGQVVGFH QPGSIRLATT PVRVDEFKYQ MTRTGWHATE QYLIEPEKIQ EMFPLLNMNK 

       190        200        210        220        230        240 
VLAGLYNPGD GHIDPYSLTM ALAAGARKCG ALLKYPAPVT SLKARSDGTW DVETPQGSMR 

       250        260        270        280        290        300 
ANRIVNAAGF WAREVGKMIG LEHPLIPVQH QYVVTSTISE VKALKRELPV LRDLEGSYYL 

       310        320        330        340        350        360 
RQERDGLLFG PYESQEKMKV QDSWVTNGVP PGFGKELFES DLDRIMEHIK AAMEMVPVLK 

       370        380        390        400        410        420 
KADIINVVNG PITYSPDILP MVGPHQGVRN YWVAIGFGYG IIHAGGVGKY LSDWILHGEP 

       430        440        450        460        470        480 
PFDLIELDPN RYGKWTTTQY TEAKARESYG FNNIVGYPKE ERFAGRPTQR VSGLYQRLES 

       490        500        510        520        530        540 
KCSMGFHAGW EQPHWFYKPG QDTQYRPSFR RTNWFEPVGS EYKQVMQRVG VTDLSPFGKF 

       550        560        570        580        590        600 
NIKGQDSIRL LDHLFANVIP KVGFTNISHM LTPKGRVYAE LTVSHQSPGE FLLITGSGSE 

       610        620        630        640        650        660 
LHDLRWIEEE AVKGGYDVEI KNITDELGVL GVAGPQARKV LQKLTPEDLS DDVFKFLQTK 

       670        680        690        700        710        720 
SLKVSNIPVT AIRISYTGEL GWELYHRRED SVALYDAIMN AGQEEGIDNF GTYAMNALRL 

       730        740        750        760        770        780 
EKAFRAWGLE MNCDTNPLEA GLEYFVKLNK PADFIGKQAL KQIKAKGLKR RLVCLTLATD 

       790        800        810        820        830        840 
DVDPEGNESI WYNGKVVGNT TSGSYSYSIQ KSLAFAYVPV QLSEVGQQVE VELLGKNYPA 

       850        860 
VIIQEPLVLT EPTRNRLQKK GGKDKT

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References

[1]"Structure and analysis of the human dimethylglycine dehydrogenase gene."
Binzak B.A., Vockley J.G., Jenkins R.B., Vockley J.
Mol. Genet. Metab. 69:181-187(2000) [PubMed: 10767172] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS PRO-279; ALA-530 AND SER-646.
[2]"Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency."
Binzak B.A., Wevers R.A., Moolenaar S.H., Lee Y.-M., Hwu W.-L., Poggi-Bach J., Engelke U.F.H., Hoard H.M., Vockley J.G., Vockley J.
Am. J. Hum. Genet. 68:839-847(2001) [PubMed: 11231903] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT DMGDHD ARG-109.
[3]"Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study."
Moolenaar S.H., Poggi-Bach J., Engelke U.F.H., Corstiaensen J.M.B., Heerschap A., de Jong J.G.N., Binzak B.A., Vockley J., Wevers R.A.
Clin. Chem. 45:459-464(1999) [PubMed: 10102904] [Abstract]
Cited for: DISEASE.
+Additional computationally mapped references.

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Cross-references

Sequence databases

AF111858 mRNA. Translation: AAF21941.1.
IPIIPI00296196.
RefSeqNP_037523.2.
UniGeneHs.655653

3D structure databases

ModBaseSearch...

Proteomic databases

PRIDEQ9UI17.

Genome annotation databases

EnsemblENSG00000132837. Homo sapiens. [Contig view]
GeneID29958.
KEGGhsa:29958.

Organism-specific databases

GeneCardsGC05M078329.
H-InvDBHIX0004979.
HGNCHGNC:24475. DMGDH.
MIM605849. gene.
605850. phenotype.
PharmGKBPA134947212.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ9UI17.
HOVERGENQ9UI17.

Enzyme and pathway databases

BRENDA1.5.99.2. 247.

Gene expression databases

ArrayExpressQ9UI17.
BgeeQ9UI17.
CleanExHS_DMGDH.
GermOnlineENSG00000132837. Homo sapiens.

Family and domain databases

InterProIPR006076. FAD-dep_OxRdtase.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
[Graphical view]
PfamPF01266. DAO. 1 hit.
PF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio52675.
SOURCESearch...

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Entry information

Entry nameM2GD_HUMAN
AccessionPrimary (citable) accession number: Q9UI17
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: March 3, 2009
This is version 79 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM

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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents