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    DLD dihydrolipoamide dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 1738, updated on 13-Nov-2024

    Summary

    Official Symbol
    DLDprovided by HGNC
    Official Full Name
    dihydrolipoamide dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:2898
    See related
    Ensembl:ENSG00000091140 MIM:238331; AllianceGenome:HGNC:2898
    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; OGDC-E3
    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
    NEW
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    Genomic context

    See DLD in Genome Data Viewer
    Location:
    7q31.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107891107..107921198)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (109209306..109239391)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107531552..107561643)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375444 Neighboring gene uncharacterized LOC105375445 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:107531366-107532048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:107572237-107572884 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:107573531-107574176 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:107572885-107573530 Neighboring gene VISTA enhancer hs2081 Neighboring gene laminin subunit beta 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:107593919-107594462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:107595007-107595549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:107616823-107617323 Neighboring gene uncharacterized LOC124901861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:107641444-107642044 Neighboring gene uncharacterized LOC107986834 Neighboring gene laminin subunit beta 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Pyruvate dehydrogenase E3 deficiency not available

    EBI GWAS Catalog

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

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of acetyltransferase complex  
    located_in acrosomal matrix  
    part_of branched-chain alpha-ketoacid dehydrogenase complex PubMed 
    part_of branched-chain alpha-ketoacid dehydrogenase complex PubMed 
    located_in mitochondrial matrix PubMed 
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion PubMed 
    located_in mitochondrion PubMed 
    located_in motile cilium  
    located_in nucleus PubMed 
    part_of oxoadipate dehydrogenase complex PubMed 
    part_of oxoglutarate dehydrogenase complex  
    part_of oxoglutarate dehydrogenase complex PubMed 
    part_of pyruvate dehydrogenase complex PubMed 
    part_of pyruvate dehydrogenase complex PubMed 
    part_of pyruvate dehydrogenase complex  

    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)

    NEW Try the new Transcript table

    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
      5043..35058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000108.5NP_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
      Consensus CDS
      CCDS5749.1
      UniProtKB/Swiss-Prot
      B2R5X0, B4DHG0, B4DT69, P09622, Q14131, Q14167, Q59EV8, Q8WTS4
      UniProtKB/TrEMBL
      A0A024R713, B4DMK9
      Related
      ENSP00000205402.3, ENST00000205402.10
      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/TrEMBL
      B4DFL1
      Conserved Domains (1) summary
      cl39093
      Location:4410
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    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/TrEMBL
      B4DMK9, E9PEX6
      Related
      ENSP00000417016.1, ENST00000440410.5
      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/TrEMBL
      B4DMK9
      Related
      ENSP00000387542.2, ENST00000437604.6
      Conserved Domains (1) summary
      cl27343
      Location:43461
      Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      109209306..109239391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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