Reviewed,
UniProtKB/Swiss-Prot Q86WU2 (LDHD_HUMAN)
Last modified
June 16, 2009.
Version 51.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Probable D-lactate dehydrogenase, mitochondrial Short name=Lactate dehydrogenase D Short name=DLD EC=1.1.2.4 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 507 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Catalytic activity | (R)-lactate + 2 ferricytochrome c = pyruvate + 2 ferrocytochrome c. |
| Cofactor | FAD By similarity. UniProtKB P39976 |
| Subunit structure | Interacts with CSRP3. Ref.1 |
| Subcellular location | Mitochondrion By similarity. UniProtKB Q7TNG8 |
| Tissue specificity | Expressed moderately in heart and liver and at lower levels in skeletal muscle and kidney. Ref.1 |
| Sequence similarities | Belongs to the FAD-binding oxidoreductase/transferase type 4 family. Contains 1 FAD-binding PCMH-type domain. |
| Sequence caution | The sequence AAM50322.1 differs from that shown. Reason: Frameshift at several positions. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Mitochondrion |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transit peptide |
| Ligand | FAD Flavoprotein |
| Molecular function | Oxidoreductase |
| Gene Ontology (GO) | |
| Biological process | oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | mitochondrion Inferred from sequence or structural similarity. Source: UniProtKB |
| Molecular function | D-lactate dehydrogenase (cytochrome) activity Inferred from electronic annotation. Source: EC FAD bindingInferred from electronic annotation. Source: InterPro protein binding Ref.1Inferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 Ref.2 (identifier: Q86WU2-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 2 Ref.1 (identifier: Q86WU2-2) The sequence of this isoform differs from the canonical sequence as follows: 211-233: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – ? | Mitochondrion Potential | |||||||
| Chain | ? – 507 | Probable D-lactate dehydrogenase, mitochondrial | PRO_0000262952 | ||||||
Regions | |||||||||
| Domain | 62 – 265 | 204 | FAD-binding PCMH-type | ||||||
Natural variations | |||||||||
| Alternative sequence | 211 – 233 | 23 | Missing in isoform 2. Ref.1 | VSP_052253 | |||||
| Natural variant | 233 | 1 | R → K: dbSNP rs11644820. | VAR_029561 | |||||
Experimental info | |||||||||
| Sequence conflict | 323 | 1 | T → I in AAM50322. Ref.1 | ||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Identification of putative mammalian D-lactate dehydrogenase enzymes." Flick M.J., Konieczny S.F. Biochem. Biophys. Res. Commun. 295:910-916(2002) [PubMed: 12127981] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INTERACTION WITH CSRP3, TISSUE SPECIFICITY. |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain and Colon. |
Cross-references
Sequence databases | |
|---|---|
| AY092767 mRNA. Translation: AAM50322.1. Frameshift. BC040279 mRNA. Translation: AAH40279.1. BC047902 mRNA. Translation: AAH47902.1. | |
| IPI | IPI00218015. IPI00329133. |
| RefSeq | NP_705690.2. NP_919417.1. |
| UniGene | Hs.380929 |
3D structure databases | |
| ModBase | Search... |
Proteomic databases | |
| PRIDE | Q86WU2. |
Genome annotation databases | |
| Ensembl | ENSG00000166816. Homo sapiens. [Contig view] |
| GeneID | 197257. |
| KEGG | hsa:197257. |
Organism-specific databases | |
| GeneCards | GC16M073703. |
| HGNC | HGNC:19708. LDHD. |
| MIM | 607490. gene. |
| PharmGKB | PA134917525. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q86WU2. |
| OMA | Q86WU2. VAILIDP. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:MON-12892. |
| BRENDA | 1.1.2.4. 247. |
Gene expression databases | |
| Bgee | Q86WU2. |
| CleanEx | HS_LDHD. |
| GermOnline | ENSG00000166816. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016166. FAD-bd_2. IPR016167. FAD-bd_2_sub1. IPR016168. FAD-linked_Oxase_FAD-bd_sub2. IPR004113. FAD-linked_oxidase_C. IPR006094. Oxid_FAD_bind_N. [Graphical view] |
| Gene3D | G3DSA:3.30.43.10. FAD-binding_2_sub1. 1 hit. G3DSA:3.30.465.20. FAD-linked_oxidase_FAD-bd_sub2. 1 hit. |
| Pfam | PF02913. FAD-oxidase_C. 1 hit. PF01565. FAD_binding_4. 1 hit. [Graphical view] |
| PROSITE | PS51387. FAD_PCMH. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 89620. |
| SOURCE | Search... |
Entry information
| Entry name | LDHD_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86WU2 Secondary accession number(s): Q8IZK5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


