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Q86WU2

- LDHD_HUMAN

UniProt

Q86WU2 - LDHD_HUMAN

Protein

Probable D-lactate dehydrogenase, mitochondrial

Gene

LDHD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    (R)-lactate + 2 ferricytochrome c = pyruvate + 2 ferrocytochrome c + 2 H+.

    Cofactori

    FAD.By similarity

    GO - Molecular functioni

    1. D-lactate dehydrogenase (cytochrome) activity Source: UniProtKB-EC
    2. flavin adenine dinucleotide binding Source: InterPro
    3. protein binding Source: UniProtKB
    4. UDP-N-acetylmuramate dehydrogenase activity Source: InterPro

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    FAD, Flavoprotein

    Enzyme and pathway databases

    BioCyciMetaCyc:HS15490-MONOMER.
    ReactomeiREACT_118595. Mitochondrial protein import.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable D-lactate dehydrogenase, mitochondrial (EC:1.1.2.4)
    Short name:
    DLD
    Short name:
    Lactate dehydrogenase D
    Gene namesi
    Name:LDHDImported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:19708. LDHD.

    Subcellular locationi

    Mitochondrion By similarity

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Ensembl
    2. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134917525.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini? – 507Probable D-lactate dehydrogenase, mitochondrialPRO_0000262952
    Transit peptidei1 – ?MitochondrionSequence Analysis

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei36 – 361N6-acetyllysineBy similarity
    Modified residuei315 – 3151N6-acetyllysineBy similarity
    Modified residuei358 – 3581N6-acetyllysine; alternateBy similarity
    Modified residuei358 – 3581N6-succinyllysine; alternateBy similarity
    Modified residuei445 – 4451N6-acetyllysineBy similarity
    Modified residuei472 – 4721N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ86WU2.
    PaxDbiQ86WU2.
    PRIDEiQ86WU2.

    PTM databases

    PhosphoSiteiQ86WU2.

    Expressioni

    Tissue specificityi

    Expressed moderately in heart and liver and at lower levels in skeletal muscle and kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ86WU2.
    BgeeiQ86WU2.
    CleanExiHS_LDHD.
    GenevestigatoriQ86WU2.

    Organism-specific databases

    HPAiHPA041766.
    HPA048639.

    Interactioni

    Subunit structurei

    Interacts with CSRP3.1 Publication

    Protein-protein interaction databases

    BioGridi128242. 4 interactions.
    STRINGi9606.ENSP00000300051.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86WU2.
    SMRiQ86WU2. Positions 27-507.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini62 – 265204FAD-binding PCMH-typePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 FAD-binding PCMH-type domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0277.
    HOGENOMiHOG000230995.
    HOVERGENiHBG066407.
    InParanoidiQ86WU2.
    KOiK00102.
    OMAiNCLVAPT.
    OrthoDBiEOG7QNVKV.
    PhylomeDBiQ86WU2.
    TreeFamiTF314122.

    Family and domain databases

    Gene3Di1.10.45.10. 1 hit.
    3.30.43.10. 1 hit.
    3.30.465.10. 1 hit.
    InterProiIPR016169. CO_DH_flavot_FAD-bd_sub2.
    IPR016166. FAD-bd_2.
    IPR016167. FAD-bd_2_sub1.
    IPR016164. FAD-linked_Oxase-like_C.
    IPR004113. FAD-linked_oxidase_C.
    IPR006094. Oxid_FAD_bind_N.
    IPR016171. Vanillyl_alc_oxidase_C-sub2.
    [Graphical view]
    PfamiPF02913. FAD-oxidase_C. 1 hit.
    PF01565. FAD_binding_4. 1 hit.
    [Graphical view]
    SUPFAMiSSF55103. SSF55103. 1 hit.
    SSF56176. SSF56176. 2 hits.
    PROSITEiPS51387. FAD_PCMH. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q86WU2-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MARLLRSATW ELFPWRGYCS QKAKGELCRD FVEALKAVVG GSHVSTAAVV    50
    REQHGRDESV HRCEPPDAVV WPQNVEQVSR LAALCYRQGV PIIPFGTGTG 100
    LEGGVCAVQG GVCVNLTHMD RILELNQEDF SVVVEPGVTR KALNAHLRDS 150
    GLWFPVDPGA DASLCGMAAT GASGTNAVRY GTMRDNVLNL EVVLPDGRLL 200
    HTAGRGRHFR FGFWPEIPHH TAWYSPCVSL GRRKSAAGYN LTGLFVGSEG 250
    TLGLITATTL RLHPAPEATV AATCAFPSVQ AAVDSTVHIL QAAVPVARIE 300
    FLDEVMMDAC NRYSKLNCLV APTLFLEFHG SQQALEEQLQ RTEEIVQQNG 350
    ASDFSWAKEA EERSRLWTAR HNAWYAALAT RPGCKGYSTD VCVPISRLPE 400
    IVVQTKEDLN ASGLTGSIVG HVGDGNFHCI LLVNPDDAEE LGRVKAFAEQ 450
    LGRRALALHG TCTGEHGIGM GKRQLLQEEV GAVGVETMRQ LKAVLDPQGL 500
    MNPGKVL 507

    Note: No experimental confirmation available.Curated

    Length:507
    Mass (Da):54,871
    Last modified:June 1, 2003 - v1
    Checksum:i5625743709939182
    GO
    Isoform 21 Publication (identifier: Q86WU2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         211-233: Missing.

    Show »
    Length:484
    Mass (Da):52,144
    Checksum:iFF9C9F939CB4BDC3
    GO

    Sequence cautioni

    The sequence AAM50322.1 differs from that shown. Reason: Frameshift at several positions.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti323 – 3231T → I in AAM50322. (PubMed:12127981)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti233 – 2331R → K.
    Corresponds to variant rs11644820 [ dbSNP | Ensembl ].
    VAR_029561

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei211 – 23323Missing in isoform 2. 1 PublicationVSP_052253Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY092767 mRNA. Translation: AAM50322.1. Frameshift.
    BC040279 mRNA. Translation: AAH40279.1.
    BC047902 mRNA. Translation: AAH47902.1.
    CCDSiCCDS10913.1. [Q86WU2-1]
    CCDS45529.1. [Q86WU2-2]
    RefSeqiNP_705690.2. NM_153486.3. [Q86WU2-1]
    NP_919417.1. NM_194436.2. [Q86WU2-2]
    UniGeneiHs.380929.

    Genome annotation databases

    EnsembliENST00000300051; ENSP00000300051; ENSG00000166816. [Q86WU2-1]
    ENST00000450168; ENSP00000417011; ENSG00000166816. [Q86WU2-2]
    GeneIDi197257.
    KEGGihsa:197257.
    UCSCiuc002fdm.3. human. [Q86WU2-1]
    uc002fdn.3. human. [Q86WU2-2]

    Polymorphism databases

    DMDMi74727712.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY092767 mRNA. Translation: AAM50322.1 . Frameshift.
    BC040279 mRNA. Translation: AAH40279.1 .
    BC047902 mRNA. Translation: AAH47902.1 .
    CCDSi CCDS10913.1. [Q86WU2-1 ]
    CCDS45529.1. [Q86WU2-2 ]
    RefSeqi NP_705690.2. NM_153486.3. [Q86WU2-1 ]
    NP_919417.1. NM_194436.2. [Q86WU2-2 ]
    UniGenei Hs.380929.

    3D structure databases

    ProteinModelPortali Q86WU2.
    SMRi Q86WU2. Positions 27-507.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128242. 4 interactions.
    STRINGi 9606.ENSP00000300051.

    Chemistry

    BindingDBi Q86WU2.

    PTM databases

    PhosphoSitei Q86WU2.

    Polymorphism databases

    DMDMi 74727712.

    Proteomic databases

    MaxQBi Q86WU2.
    PaxDbi Q86WU2.
    PRIDEi Q86WU2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300051 ; ENSP00000300051 ; ENSG00000166816 . [Q86WU2-1 ]
    ENST00000450168 ; ENSP00000417011 ; ENSG00000166816 . [Q86WU2-2 ]
    GeneIDi 197257.
    KEGGi hsa:197257.
    UCSCi uc002fdm.3. human. [Q86WU2-1 ]
    uc002fdn.3. human. [Q86WU2-2 ]

    Organism-specific databases

    CTDi 197257.
    GeneCardsi GC16M075145.
    HGNCi HGNC:19708. LDHD.
    HPAi HPA041766.
    HPA048639.
    MIMi 607490. gene.
    neXtProti NX_Q86WU2.
    PharmGKBi PA134917525.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0277.
    HOGENOMi HOG000230995.
    HOVERGENi HBG066407.
    InParanoidi Q86WU2.
    KOi K00102.
    OMAi NCLVAPT.
    OrthoDBi EOG7QNVKV.
    PhylomeDBi Q86WU2.
    TreeFami TF314122.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS15490-MONOMER.
    Reactomei REACT_118595. Mitochondrial protein import.

    Miscellaneous databases

    GenomeRNAii 197257.
    NextBioi 89620.
    PROi Q86WU2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86WU2.
    Bgeei Q86WU2.
    CleanExi HS_LDHD.
    Genevestigatori Q86WU2.

    Family and domain databases

    Gene3Di 1.10.45.10. 1 hit.
    3.30.43.10. 1 hit.
    3.30.465.10. 1 hit.
    InterProi IPR016169. CO_DH_flavot_FAD-bd_sub2.
    IPR016166. FAD-bd_2.
    IPR016167. FAD-bd_2_sub1.
    IPR016164. FAD-linked_Oxase-like_C.
    IPR004113. FAD-linked_oxidase_C.
    IPR006094. Oxid_FAD_bind_N.
    IPR016171. Vanillyl_alc_oxidase_C-sub2.
    [Graphical view ]
    Pfami PF02913. FAD-oxidase_C. 1 hit.
    PF01565. FAD_binding_4. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55103. SSF55103. 1 hit.
    SSF56176. SSF56176. 2 hits.
    PROSITEi PS51387. FAD_PCMH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of putative mammalian D-lactate dehydrogenase enzymes."
      Flick M.J., Konieczny S.F.
      Biochem. Biophys. Res. Commun. 295:910-916(2002) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: BrainImported and ColonImported.

    Entry informationi

    Entry nameiLDHD_HUMAN
    AccessioniPrimary (citable) accession number: Q86WU2
    Secondary accession number(s): Q8IZK5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2006
    Last sequence update: June 1, 2003
    Last modified: October 1, 2014
    This is version 98 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3