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DLD dihydrolipoamide dehydrogenase [ Homo sapiens (human) ]

Gene ID: 1738, updated on 4-Nov-2018

Summary

Official Symbol
DLDprovided by HGNC
Official Full Name
dihydrolipoamide dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:2898
See related
Ensembl:ENSG00000091140 MIM:238331; Vega:OTTHUMG00000154813
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
E3; LAD; DLDD; DLDH; GCSL; PHE3
Summary
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 encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression
Ubiquitous expression in heart (RPKM 53.0), fat (RPKM 39.4) and 25 other tissues See more
Orthologs

Genomic context

See DLD in Genome Data Viewer
Location:
7q31.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (107891107..107921198)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107531586..107561643)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375444 Neighboring gene uncharacterized LOC105375445 Neighboring gene VISTA enhancer hs2081 Neighboring gene laminin subunit beta 1 Neighboring gene uncharacterized LOC107986834 Neighboring gene laminin subunit beta 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Maple syrup urine disease, type 3 Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human dihydrolipoamide dehydrogenase (DLD) at amino acid residues 470-471 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding IEA
Inferred from Electronic Annotation
more info
 
dihydrolipoyl dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
dihydrolipoyl dehydrogenase activity TAS
Traceable Author Statement
more info
 
electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
lipoamide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to pyruvate dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
2-oxoglutarate metabolic process IEA
Inferred from Electronic Annotation
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
dihydrolipoamide metabolic process IEA
Inferred from Electronic Annotation
more info
 
gastrulation IEA
Inferred from Electronic Annotation
more info
 
histone succinylation IDA
Inferred from Direct Assay
more info
PubMed 
lipoate metabolic process IEA
Inferred from Electronic Annotation
more info
 
mitochondrial acetyl-CoA biosynthetic process from pyruvate IC
Inferred by Curator
more info
PubMed 
mitochondrial electron transport, NADH to ubiquinone IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
 
sperm capacitation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal matrix IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
oxoglutarate dehydrogenase complex IDA
Inferred from Direct Assay
more info
PubMed 
pyruvate dehydrogenase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
dihydrolipoyl dehydrogenase, mitochondrial
Names
E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
diaphorase
epididymis secretory sperm binding protein
glycine cleavage system L protein
glycine cleavage system protein L
lipoamide dehydrogenase
lipoamide reductase
lipoyl dehydrogenase
NP_000099.2
NP_001276679.1
NP_001276680.1
NP_001276681.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008045.1 RefSeqGene

    Range
    4967..35058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000108.4NP_000099.2  dihydrolipoyl dehydrogenase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000099.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC005046, AK312346, BC018648, DC354209
    Consensus CDS
    CCDS5749.1
    UniProtKB/Swiss-Prot
    P09622
    UniProtKB/TrEMBL
    A0A024R713
    Related
    ENSP00000205402.3, OTTHUMP00000206744, ENST00000205402.9, OTTHUMT00000337194
    Conserved Domains (1) summary
    cl27343
    Location:43509
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
  2. NM_001289750.1NP_001276679.1  dihydrolipoyl dehydrogenase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001276679.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC005046, AK295080, DC354209
    UniProtKB/Swiss-Prot
    P09622
    Conserved Domains (3) summary
    pfam00070
    Location:116189
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam02852
    Location:291397
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerization domain
    cl10013
    Location:207279
    Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
  3. NM_001289751.1NP_001276680.1  dihydrolipoyl dehydrogenase, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AC005046, AK312346, BC018648, DC354209
    Consensus CDS
    CCDS78269.1
    UniProtKB/Swiss-Prot
    P09622
    UniProtKB/TrEMBL
    E9PEX6
    Related
    ENSP00000417016.1, OTTHUMP00000206746, ENST00000440410.5, OTTHUMT00000337196
    Conserved Domains (1) summary
    cl27343
    Location:43486
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
  4. NM_001289752.1NP_001276681.1  dihydrolipoyl dehydrogenase, mitochondrial isoform 4

    See identical proteins and their annotated locations for NP_001276681.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AC005046, AK312346, BC018648, DC354209
    Consensus CDS
    CCDS78268.1
    UniProtKB/Swiss-Prot
    P09622
    Related
    ENSP00000387542.2, OTTHUMP00000206748, ENST00000437604.6, OTTHUMT00000337198
    Conserved Domains (1) summary
    cl27343
    Location:43461
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    107891107..107921198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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