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Q9UI17

- M2GD_HUMAN

UniProt

Q9UI17 - M2GD_HUMAN

Protein

Dimethylglycine dehydrogenase, mitochondrial

Gene

DMGDH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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

    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 5050MitochondrionSequence AnalysisAdd
    BLAST
    Chaini51 – 866816Dimethylglycine dehydrogenase, mitochondrialPRO_0000010767Add
    BLAST

    Amino acid modifications

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

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the GcvT family.Curated

    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

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    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti381 – 3811M → I in BAG37277. (PubMed:14702039)Curated
    Sequence conflicti627 – 6271L → F in BAG37277. (PubMed:14702039)Curated

    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 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...
    MobiDBi 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

    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: October 1, 2014
    This is version 127 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