Cell atlas - DMGDH - The Human Protein Atlas

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DMGDH

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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GENERAL INFORMATION
Gene name	DMGDH
Gene description	Dimethylglycine dehydrogenase
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the mitochondria.
RNA cell category	Cell line enhanced (Hep G2, BJ hTERT+, U-87 MG)
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (uncertain)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Uncertain based on 1 antibody. HPA077849
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (Hep G2, BJ hTERT+, U-87 MG) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the mitochondria.

Main location

Mitochondria (uncertain)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA077849	U-2 OS	Mitochondria	Intensity

GENE INFORMATION
Gene name	DMGDH
Synonyms
Description	Dimethylglycine dehydrogenase (HGNC Symbol)
Entrez gene summary	This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Chromosome	5
Cytoband	q14.1
Chromosome location (bp)	78997606 - 79236038
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000132837 (version 83.38)
Entrez gene	29958
UniProt	Q9UI17 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UI17
Antibodypedia	DMGDH antibodies

PROTEIN BROWSER

DMGDH-001	DMGDH-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
DMGDH-001 ENSP00000255189 ENST00000255189	Q9UI17 [Direct mapping] Dimethylglycine dehydrogenase, mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006544 [glycine metabolic process] GO:0006579 [amino-acid betaine catabolic process] GO:0009055 [electron carrier activity] GO:0016491 [oxidoreductase activity] GO:0019695 [choline metabolic process] GO:0044822 [poly(A) RNA binding] GO:0047865 [dimethylglycine dehydrogenase activity] GO:0055114 [oxidation-reduction process] Show all	866 aa 96.8 kDa	No	0
DMGDH-004 ENSP00000430972 ENST00000523732	Q8TCC6 [Direct mapping] DMGDH protein; Dimethylglycine dehydrogenase, mitochondrial Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0016491 [oxidoreductase activity] GO:0055114 [oxidation-reduction process] Show all	613 aa 69.3 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.