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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

FADNote: 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
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.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

BgeeiQ9UI17.
CleanExiHS_DMGDH.
ExpressionAtlasiQ9UI17. baseline and differential.
GenevestigatoriQ9UI17.

Organism-specific databases

HPAiHPA036441.
HPA036442.

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

STRINGi9606.ENSP00000255189.

Structurei

3D structure databases

ProteinModelPortaliQ9UI17.
SMRiQ9UI17. Positions 45-863.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GcvT family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0665.
GeneTreeiENSGT00530000063120.
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.

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

Isoform 1 (identifier: Q9UI17-1) [UniParc]FASTAAdd 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
GO
Isoform 2 (identifier: Q9UI17-2) [UniParc]FASTAAdd 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.

Note: No experimental confirmation available

Show »
Length:394
Mass (Da):45,079
Checksum:iCA6DCA6EA8F01BCF
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1818MLRPG…LRSCP → MWSCWRNQSSRLDLPGTQ in isoform 2. 1 PublicationVSP_056959Add
BLAST
Alternative sequencei19 – 398380Missing in isoform 2. 1 PublicationVSP_056960Add
BLAST
Alternative sequencei751 – 77424PADFI…RRLVC → DQNSCFAHFKEENGWVSRWA IRPY in isoform 2. 1 PublicationVSP_056961Add
BLAST
Alternative sequencei775 – 86692Missing in isoform 2. 1 PublicationVSP_056962Add
BLAST

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.
CCDSiCCDS4044.1.
RefSeqiNP_037523.2. NM_013391.3.
UniGeneiHs.655653.

Genome annotation databases

EnsembliENST00000255189; ENSP00000255189; ENSG00000132837. [Q9UI17-1]
GeneIDi29958.
KEGGihsa:29958.
UCSCiuc003kfs.3. human. [Q9UI17-1]

Polymorphism databases

DMDMi296434575.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
RefSeqi NP_037523.2. NM_013391.3.
UniGenei Hs.655653.

3D structure databases

ProteinModelPortali Q9UI17.
SMRi Q9UI17. Positions 45-863.
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 . [Q9UI17-1 ]
GeneIDi 29958.
KEGGi hsa:29958.
UCSCi uc003kfs.3. human. [Q9UI17-1 ]

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.
GeneTreei ENSGT00530000063120.
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

Bgeei Q9UI17.
CleanExi HS_DMGDH.
ExpressionAtlasi Q9UI17. baseline and differential.
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] (ISOFORM 1), 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] (ISOFORM 1), 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] (ISOFORMS 1 AND 2), VARIANT PRO-279.
    Tissue: Synovial cell and Trachea.
  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, B4E1J9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 18, 2010
Last modified: November 26, 2014
This is version 129 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