Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases N.A.
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000132837 Gene ID 29958 Accession 24475
Symbol DMGDH Alias DMGDHD;ME2GLYDH Full Name dimethylglycine dehydrogenase
Status Confidence Length 72111 bases Strand Minus strand
Position 5 : 78997564 - 79069674 RNA binding domain N.A.
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
DMGDH-201 ENST00000255189 3173 866aa ENSP00000255189
DMGDH-209 ENST00000523732 2777 613aa ENSP00000430972
DMGDH-203 ENST00000518477 1966 98aa ENSP00000427834
DMGDH-202 ENST00000517853 1517 106aa ENSP00000428995
DMGDH-208 ENST00000523201 583 No protein -
DMGDH-207 ENST00000521052 554 50aa ENSP00000430133
DMGDH-210 ENST00000524206 572 50aa ENSP00000428092
DMGDH-205 ENST00000520388 661 No protein -
DMGDH-204 ENST00000518707 455 No protein -
DMGDH-206 ENST00000520855 550 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
8543Blood Pressure6.4715298450933E-617903302
8561Blood Pressure1.87210932337905E-617903302
9735Echocardiography2.18452592267932E-817903301
25670Arteries4.0630000E-005-
40265Platelet Function Tests1.0082500E-005-
55937Selenium6.3120000E-005-
63269Selenium2E-1125343990
78879Selenium2E-3925343990
88976Selenium1E-1625343990
91132Metabolism1E-1924816252
91763Selenium3E-1325343990
96169Insulin Resistance2E-923378610
97207Selenium2E-1525343990
98195Selenium9E-2823720494

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0003723enables RNA binding1HDAHomo_sapiens(9606)Function
GO:0005737is_active_in cytoplasm1IBAHomo_sapiens(9606)Component
GO:0005739is_active_in mitochondrion2IBA,IDAHomo_sapiens(9606)Component
GO:0005759is_active_in mitochondrial matrix3IBA,NAS,TASHomo_sapiens(9606)Component
GO:0006579involved_in amino-acid betaine catabolic process1IEAHomo_sapiens(9606)Process
GO:0009055enables electron transfer activity1NASHomo_sapiens(9606)Function
GO:0019695involved_in choline metabolic process1NASHomo_sapiens(9606)Process
GO:0022900involved_in electron transport chain1IEAHomo_sapiens(9606)Process
GO:0042426involved_in choline catabolic process1IMPHomo_sapiens(9606)Process
GO:0047865enables dimethylglycine dehydrogenase activity2IBA,IMPHomo_sapiens(9606)Function

Expression