Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1738
Gene name Gene Name - the full gene name approved by the HGNC.
Dihydrolipoamide dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DLD
Synonyms (NCBI Gene) Gene synonyms aliases
DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DLDD
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the e
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs111257462 G>A,C Likely-pathogenic Splice donor variant
rs121964987 A>G Pathogenic Missense variant, intron variant, coding sequence variant
rs121964988 C>T Pathogenic Missense variant, coding sequence variant
rs121964989 A>G Pathogenic Missense variant, coding sequence variant
rs121964990 G>C,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031565 hsa-miR-16-5p Proteomics 18668040
MIRT048620 hsa-miR-99a-5p CLASH 23622248
MIRT756164 hsa-miR-653-5p Luciferase reporter assay, Western blotting, qRT-PCR 37334893
MIRT937933 hsa-miR-1 CLIP-seq
MIRT937934 hsa-miR-1208 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004148 Function Dihydrolipoyl dehydrogenase activity IBA 21873635
GO:0004148 Function Dihydrolipoyl dehydrogenase activity IDA 16442803
GO:0005515 Function Protein binding IPI 16263718, 16442803, 28514442, 29128334, 32296183, 32814053
GO:0005634 Component Nucleus IDA 29211711
GO:0005739 Component Mitochondrion HDA 20833797
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
238331 2898 ENSG00000091140
Protein
UniProt ID P09622
Protein name Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8.1.4) (Dihydrolipoamide dehydrogenase) (Glycine cleavage system L protein)
Protein function Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712
PDB 1ZMC , 1ZMD , 1ZY8 , 2F5Z , 3RNM , 5J5Z , 5NHG , 6HG8 , 6I4P , 6I4Q , 6I4R , 6I4S , 6I4T , 6I4U , 6I4Z , 7PSC , 7ZYT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07992 Pyr_redox_2 42 370 Pyridine nucleotide-disulphide oxidoreductase Domain
PF02852 Pyr_redox_dim 389 498 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain Domain
Sequence
Sequence length 509
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Leigh Syndrome Leigh syndrome GenCC
Ulcerative colitis Ulcerative colitis GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abdominal Pain Associate 40390331
Acidosis Lactic Associate 40390331
Alzheimer Disease Associate 37736681
Arthritis Rheumatoid Associate 37547319
Breast Neoplasms Associate 27110560, 35935587, 36312586
Carcinogenesis Associate 38077227
Carcinoma Hepatocellular Associate 27303803
Carcinoma Hepatocellular Inhibit 27303803
Carcinoma Pancreatic Ductal Associate 36826087
Carcinoma Renal Cell Associate 36591111