Homo sapiens Protein: DLD | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-385070.4 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DLD | ||||||||||||||||||||||
Protein Name | dihydrolipoamide dehydrogenase | ||||||||||||||||||||||
Synonyms | DLDD; DLDH; E3; GCSL; LAD; PHE3; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000390667 | ||||||||||||||||||||||
InnateDB Gene | IDBG-35812 (DLD) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction. | ||||||||||||||||||||||
Subcellular Localization | Mitochondrion matrix. | ||||||||||||||||||||||
Disease Associations | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]: An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. {ECO:0000269PubMed:8506365, ECO:0000269PubMed:8968745, ECO:0000269PubMed:9934985}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000103
Pyridine nucleotide-disulphide oxidoreductase, class-II IPR000815 Mercuric reductase IPR001327 Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain IPR002218 Glucose-inhibited division protein A-related IPR003953 FAD binding domain IPR004099 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain IPR006258 Dihydrolipoamide dehydrogenase IPR013027 FAD-dependent pyridine nucleotide-disulphide oxidoreductase IPR016156 FAD/NAD-linked reductase, dimerisation domain IPR023753 Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain |
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PFAM |
PF00070
PF01134 PF00890 PF02852 PF07992 |
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PRINTS |
PR00469
PR00945 PR00368 |
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PIRSF | |||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P09622 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P09622 | ||||||||||||||||||||||
TrEMBL | B4DHG0 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 1738 | ||||||||||||||||||||||
UniGene | Hs.131711 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:2898 | ||||||||||||||||||||||
OMIM | 238331 | ||||||||||||||||||||||
CCDS | CCDS5749 | ||||||||||||||||||||||
HPRD | 02006 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB209703 AC005046 AK295080 AK312346 BC018648 BC018696 CH236947 CH471070 J03490 J03620 L13748 L13749 L13750 L13751 L13752 L13753 L13754 L13755 L13756 L13757 L13758 L13759 L13760 L13761 M99384 | ||||||||||||||||||||||
GenPept | AAA35759 AAA35764 AAA59527 AAB01381 AAH18648 AAH18696 BAD92940 BAG35267 BAG58122 EAL24389 EAW83421 EAW83422 | ||||||||||||||||||||||