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Q9UI17 (M2GD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dimethylglycine dehydrogenase, mitochondrial

EC=1.5.8.4
Alternative name(s):
ME2GLYDH
Gene names
Name:DMGDH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

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

General annotation (Comments)

Catalytic activity

N,N-dimethylglycine + electron-transfer flavoprotein + H2O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein.

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

DMGDH deficiency (DMGDHD) [MIM:605850]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.5

Sequence similarities

Belongs to the GcvT family.

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 residue911Tele-8alpha-FAD histidine By similarity
Modified residue1141N6-acetyllysine By similarity
Modified residue1481N6-acetyllysine; alternate By similarity
Modified residue1481N6-succinyllysine; alternate By similarity
Modified residue1681N6-acetyllysine By similarity
Modified residue2231N6-acetyllysine By similarity
Modified residue3171N6-succinyllysine By similarity
Modified residue3191N6-succinyllysine By similarity
Modified residue3351N6-acetyllysine By similarity
Modified residue3601N6-acetyllysine By similarity
Modified residue4341N6-acetyllysine; alternate By similarity
Modified residue4341N6-succinyllysine; alternate By similarity
Modified residue5231N6-acetyllysine; alternate By similarity
Modified residue5231N6-succinyllysine; alternate By similarity
Modified residue6551N6-acetyllysine; alternate By similarity
Modified residue6551N6-succinyllysine; alternate By similarity
Modified residue7641N6-acetyllysine By similarity
Modified residue7951N6-succinyllysine By similarity

Natural variations

Natural variant1091H → R in DMGDHD. Ref.2
Corresponds to variant rs121908331 [ dbSNP | Ensembl ].
VAR_011505
Natural variant2791S → P. Ref.1 Ref.3
Corresponds to variant rs532964 [ dbSNP | Ensembl ].
VAR_014950
Natural variant5301A → G. Ref.2
Corresponds to variant rs1805073 [ dbSNP | Ensembl ].
VAR_014951
Natural variant6461S → P. Ref.2
Corresponds to variant rs1805074 [ dbSNP | Ensembl ].
VAR_014952

Experimental info

Sequence conflict3811M → I in BAG37277. Ref.3
Sequence conflict6271L → F in BAG37277. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q9UI17 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 2EC1FA7DCB6C1F8C

FASTA86696,811
        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 EYKQVMQRVA VTDLSPFGKF 

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

       610        620        630        640        650        660 
LHDLRWIEEE AVKGGYDVEI KNITDELGVL GVAGPQARKV LQKLTSEDLS 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 

« Hide

References

« Hide 'large scale' 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT PRO-279.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLY-530 AND PRO-646, VARIANT DMGDHD ARG-109.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT PRO-279.
Tissue: Synovial cell.
[4]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] [Europe PMC] [Abstract]
Cited for: DISEASE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF111858 mRNA. Translation: AAF21941.1.
AK314736 mRNA. Translation: BAG37277.1.
AC008502 Genomic DNA. No translation available.
AC020937 Genomic DNA. No translation available.
CCDSCCDS4044.1.
RefSeqNP_037523.2. NM_013391.3.
UniGeneHs.655653.

3D structure databases

ProteinModelPortalQ9UI17.
SMRQ9UI17. Positions 51-856.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000255189.

PTM databases

PhosphoSiteQ9UI17.

Polymorphism databases

DMDM296434575.

Proteomic databases

PaxDbQ9UI17.
PRIDEQ9UI17.

Protocols and materials databases

DNASU29958.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000255189; ENSP00000255189; ENSG00000132837.
GeneID29958.
KEGGhsa:29958.
UCSCuc003kfs.3. human.

Organism-specific databases

CTD29958.
GeneCardsGC05M078293.
H-InvDBHIX0200737.
HGNCHGNC:24475. DMGDH.
HPAHPA036441.
HPA036442.
MIM605849. gene.
605850. phenotype.
neXtProtNX_Q9UI17.
Orphanet243343. Dimethylglycine dehydrogenase deficiency.
PharmGKBPA134947212.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0665.
HOGENOMHOG000251716.
HOVERGENHBG081945.
InParanoidQ9UI17.
KOK00315.
OMAAGFWARE.
OrthoDBEOG7CCBQB.
PhylomeDBQ9UI17.
TreeFamTF314735.

Enzyme and pathway databases

BioCycMetaCyc:HS05695-MONOMER.
UniPathwayUPA00291; UER00433.

Gene expression databases

ArrayExpressQ9UI17.
BgeeQ9UI17.
CleanExHS_DMGDH.
GenevestigatorQ9UI17.

Family and domain databases

Gene3D2.40.30.110. 1 hit.
3.30.1360.120. 2 hits.
InterProIPR006076. FAD-dep_OxRdtase.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
IPR029043. GcvT/YgfZ_C.
IPR027266. TrmE/GcvT_dom1.
[Graphical view]
PfamPF01266. DAO. 1 hit.
PF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view]
SUPFAMSSF101790. SSF101790. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi29958.
NextBio52675.
PROQ9UI17.
SOURCESearch...

Entry information

Entry nameM2GD_HUMAN
AccessionPrimary (citable) accession number: Q9UI17
Secondary accession number(s): B2RBN0
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 126 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

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