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    DLD dihydrolipoamide dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 1738, updated on 3-Jun-2018
    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
    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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    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 
    Preferred Names
    dihydrolipoyl dehydrogenase, mitochondrial
    Names
    E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex
    diaphorase
    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

    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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