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Q9UI17

- M2GD_HUMAN

UniProt

Q9UI17 - M2GD_HUMAN

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Protein
Dimethylglycine dehydrogenase, mitochondrial
Gene
DMGDH
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Cofactori

Binds 1 FAD covalently per monomer.

Pathwayi

GO - Molecular functioni

  1. aminomethyltransferase activity Source: InterPro
  2. dimethylglycine dehydrogenase activity Source: UniProtKB
  3. electron carrier activity Source: UniProtKB
  4. poly(A) RNA binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. amino-acid betaine catabolic process Source: UniProtKB-UniPathway
  2. choline metabolic process Source: UniProtKB
  3. glycine catabolic process Source: InterPro
  4. glycine metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS05695-MONOMER.
UniPathwayiUPA00291; UER00433.

Names & Taxonomyi

Protein namesi
Recommended name:
Dimethylglycine dehydrogenase, mitochondrial (EC:1.5.8.4)
Alternative name(s):
ME2GLYDH
Gene namesi
Name:DMGDH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:24475. DMGDH.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti109 – 1091H → R in DMGDHD. 1 Publication
Corresponds to variant rs121908331 [ dbSNP | Ensembl ].
VAR_011505

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi605850. phenotype.
Orphaneti243343. Dimethylglycine dehydrogenase deficiency.
PharmGKBiPA134947212.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 5050Mitochondrion Reviewed prediction
Add
BLAST
Chaini51 – 866816Dimethylglycine dehydrogenase, mitochondrial
PRO_0000010767Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei91 – 911Tele-8alpha-FAD histidine By similarity
Modified residuei114 – 1141N6-acetyllysine By similarity
Modified residuei148 – 1481N6-acetyllysine; alternate By similarity
Modified residuei148 – 1481N6-succinyllysine; alternate By similarity
Modified residuei168 – 1681N6-acetyllysine By similarity
Modified residuei223 – 2231N6-acetyllysine By similarity
Modified residuei317 – 3171N6-succinyllysine By similarity
Modified residuei319 – 3191N6-succinyllysine By similarity
Modified residuei335 – 3351N6-acetyllysine By similarity
Modified residuei360 – 3601N6-acetyllysine By similarity
Modified residuei434 – 4341N6-acetyllysine; alternate By similarity
Modified residuei434 – 4341N6-succinyllysine; alternate By similarity
Modified residuei523 – 5231N6-acetyllysine; alternate By similarity
Modified residuei523 – 5231N6-succinyllysine; alternate By similarity
Modified residuei655 – 6551N6-acetyllysine; alternate By similarity
Modified residuei655 – 6551N6-succinyllysine; alternate By similarity
Modified residuei764 – 7641N6-acetyllysine By similarity
Modified residuei795 – 7951N6-succinyllysine By similarity

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ9UI17.
PRIDEiQ9UI17.

PTM databases

PhosphoSiteiQ9UI17.

Expressioni

Gene expression databases

ArrayExpressiQ9UI17.
BgeeiQ9UI17.
CleanExiHS_DMGDH.
GenevestigatoriQ9UI17.

Organism-specific databases

HPAiHPA036441.
HPA036442.

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

STRINGi9606.ENSP00000255189.

Structurei

3D structure databases

ProteinModelPortaliQ9UI17.
SMRiQ9UI17. Positions 51-856.

Family & Domainsi

Sequence similaritiesi

Belongs to the GcvT family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0665.
HOGENOMiHOG000251716.
HOVERGENiHBG081945.
InParanoidiQ9UI17.
KOiK00315.
OMAiAGFWARE.
OrthoDBiEOG7CCBQB.
PhylomeDBiQ9UI17.
TreeFamiTF314735.

Family and domain databases

Gene3Di2.40.30.110. 1 hit.
3.30.1360.120. 2 hits.
InterProiIPR006076. FAD-dep_OxRdtase.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
IPR029043. GcvT/YgfZ_C.
IPR027266. TrmE/GcvT_dom1.
[Graphical view]
PfamiPF01266. DAO. 1 hit.
PF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view]
SUPFAMiSSF101790. SSF101790. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Q9UI17-1 [UniParc]FASTAAdd to Basket

« Hide

MLRPGAQLLR GLLLRSCPLQ GSPGRPRSVC GREGEEKPPL SAETQWKDRA    50
ETVIIGGGCV GVSLAYHLAK AGMKDVVLLE KSELTAGSTW HAAGLTTYFH 100
PGINLKKIHY DSIKLYEKLE EETGQVVGFH QPGSIRLATT PVRVDEFKYQ 150
MTRTGWHATE QYLIEPEKIQ EMFPLLNMNK VLAGLYNPGD GHIDPYSLTM 200
ALAAGARKCG ALLKYPAPVT SLKARSDGTW DVETPQGSMR ANRIVNAAGF 250
WAREVGKMIG LEHPLIPVQH QYVVTSTISE VKALKRELPV LRDLEGSYYL 300
RQERDGLLFG PYESQEKMKV QDSWVTNGVP PGFGKELFES DLDRIMEHIK 350
AAMEMVPVLK KADIINVVNG PITYSPDILP MVGPHQGVRN YWVAIGFGYG 400
IIHAGGVGKY LSDWILHGEP PFDLIELDPN RYGKWTTTQY TEAKARESYG 450
FNNIVGYPKE ERFAGRPTQR VSGLYQRLES KCSMGFHAGW EQPHWFYKPG 500
QDTQYRPSFR RTNWFEPVGS EYKQVMQRVA VTDLSPFGKF NIKGQDSIRL 550
LDHLFANVIP KVGFTNISHM LTPKGRVYAE LTVSHQSPGE FLLITGSGSE 600
LHDLRWIEEE AVKGGYDVEI KNITDELGVL GVAGPQARKV LQKLTSEDLS 650
DDVFKFLQTK SLKVSNIPVT AIRISYTGEL GWELYHRRED SVALYDAIMN 700
AGQEEGIDNF GTYAMNALRL EKAFRAWGLE MNCDTNPLEA GLEYFVKLNK 750
PADFIGKQAL KQIKAKGLKR RLVCLTLATD DVDPEGNESI WYNGKVVGNT 800
TSGSYSYSIQ KSLAFAYVPV QLSEVGQQVE VELLGKNYPA VIIQEPLVLT 850
EPTRNRLQKK GGKDKT 866
Length:866
Mass (Da):96,811
Last modified:May 18, 2010 - v2
Checksum:i2EC1FA7DCB6C1F8C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti109 – 1091H → R in DMGDHD. 1 Publication
Corresponds to variant rs121908331 [ dbSNP | Ensembl ].
VAR_011505
Natural varianti279 – 2791S → P.2 Publications
Corresponds to variant rs532964 [ dbSNP | Ensembl ].
VAR_014950
Natural varianti530 – 5301A → G.1 Publication
Corresponds to variant rs1805073 [ dbSNP | Ensembl ].
VAR_014951
Natural varianti646 – 6461S → P.1 Publication
Corresponds to variant rs1805074 [ dbSNP | Ensembl ].
VAR_014952

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti381 – 3811M → I in BAG37277. 1 Publication
Sequence conflicti627 – 6271L → F in BAG37277. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF111858 mRNA. Translation: AAF21941.1.
AK314736 mRNA. Translation: BAG37277.1.
AC008502 Genomic DNA. No translation available.
AC020937 Genomic DNA. No translation available.
CCDSiCCDS4044.1.
RefSeqiNP_037523.2. NM_013391.3.
UniGeneiHs.655653.

Genome annotation databases

EnsembliENST00000255189; ENSP00000255189; ENSG00000132837.
GeneIDi29958.
KEGGihsa:29958.
UCSCiuc003kfs.3. human.

Polymorphism databases

DMDMi296434575.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF111858 mRNA. Translation: AAF21941.1 .
AK314736 mRNA. Translation: BAG37277.1 .
AC008502 Genomic DNA. No translation available.
AC020937 Genomic DNA. No translation available.
CCDSi CCDS4044.1.
RefSeqi NP_037523.2. NM_013391.3.
UniGenei Hs.655653.

3D structure databases

ProteinModelPortali Q9UI17.
SMRi Q9UI17. Positions 51-856.
ModBasei Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000255189.

PTM databases

PhosphoSitei Q9UI17.

Polymorphism databases

DMDMi 296434575.

Proteomic databases

PaxDbi Q9UI17.
PRIDEi Q9UI17.

Protocols and materials databases

DNASUi 29958.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000255189 ; ENSP00000255189 ; ENSG00000132837 .
GeneIDi 29958.
KEGGi hsa:29958.
UCSCi uc003kfs.3. human.

Organism-specific databases

CTDi 29958.
GeneCardsi GC05M078293.
H-InvDB HIX0200737.
HGNCi HGNC:24475. DMGDH.
HPAi HPA036441.
HPA036442.
MIMi 605849. gene.
605850. phenotype.
neXtProti NX_Q9UI17.
Orphaneti 243343. Dimethylglycine dehydrogenase deficiency.
PharmGKBi PA134947212.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0665.
HOGENOMi HOG000251716.
HOVERGENi HBG081945.
InParanoidi Q9UI17.
KOi K00315.
OMAi AGFWARE.
OrthoDBi EOG7CCBQB.
PhylomeDBi Q9UI17.
TreeFami TF314735.

Enzyme and pathway databases

UniPathwayi UPA00291 ; UER00433 .
BioCyci MetaCyc:HS05695-MONOMER.

Miscellaneous databases

GenomeRNAii 29958.
NextBioi 52675.
PROi Q9UI17.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UI17.
Bgeei Q9UI17.
CleanExi HS_DMGDH.
Genevestigatori Q9UI17.

Family and domain databases

Gene3Di 2.40.30.110. 1 hit.
3.30.1360.120. 2 hits.
InterProi IPR006076. FAD-dep_OxRdtase.
IPR013977. GCV_T_C.
IPR006222. GCV_T_N.
IPR029043. GcvT/YgfZ_C.
IPR027266. TrmE/GcvT_dom1.
[Graphical view ]
Pfami PF01266. DAO. 1 hit.
PF01571. GCV_T. 1 hit.
PF08669. GCV_T_C. 1 hit.
[Graphical view ]
SUPFAMi SSF101790. SSF101790. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.

Entry informationi

Entry nameiM2GD_HUMAN
AccessioniPrimary (citable) accession number: Q9UI17
Secondary accession number(s): B2RBN0
Entry historyi
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 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

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