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Protein

Probable D-lactate dehydrogenase, mitochondrial

Gene

LDHD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Cofactori

FADBy similarity

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS15490-MONOMER.
ZFISH:HS15490-MONOMER.
ReactomeiR-HSA-1268020. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:19708. LDHD.

Subcellular locationi

  • Mitochondrion By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi197257.
OpenTargetsiENSG00000166816.
PharmGKBiPA134917525.

Polymorphism and mutation databases

BioMutaiLDHD.
DMDMi74727712.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000262952? – 507Probable D-lactate dehydrogenase, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei36N6-acetyllysineBy similarity1
Modified residuei315N6-acetyllysineBy similarity1
Modified residuei358N6-acetyllysine; alternateBy similarity1
Modified residuei358N6-succinyllysine; alternateBy similarity1
Modified residuei445N6-acetyllysineBy similarity1
Modified residuei472N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ86WU2.
PaxDbiQ86WU2.
PeptideAtlasiQ86WU2.
PRIDEiQ86WU2.

PTM databases

iPTMnetiQ86WU2.
PhosphoSitePlusiQ86WU2.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000166816.
CleanExiHS_LDHD.
ExpressionAtlasiQ86WU2. baseline and differential.
GenevisibleiQ86WU2. HS.

Organism-specific databases

HPAiHPA041766.
HPA048639.
HPA066148.

Interactioni

Subunit structurei

Interacts with CSRP3.1 Publication

Protein-protein interaction databases

BioGridi128242. 40 interactors.
IntActiQ86WU2. 36 interactors.
STRINGi9606.ENSP00000300051.

Structurei

3D structure databases

ProteinModelPortaliQ86WU2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini62 – 265FAD-binding PCMH-typePROSITE-ProRule annotationAdd BLAST204

Sequence similaritiesi

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

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1231. Eukaryota.
COG0277. LUCA.
GeneTreeiENSGT00530000063515.
HOGENOMiHOG000230995.
HOVERGENiHBG066407.
InParanoidiQ86WU2.
KOiK00102.
OMAiGQGFEWA.
OrthoDBiEOG091G0BAW.
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. AlignAdd to basket

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

        10         20         30         40         50
MARLLRSATW ELFPWRGYCS QKAKGELCRD FVEALKAVVG GSHVSTAAVV
60 70 80 90 100
REQHGRDESV HRCEPPDAVV WPQNVEQVSR LAALCYRQGV PIIPFGTGTG
110 120 130 140 150
LEGGVCAVQG GVCVNLTHMD RILELNQEDF SVVVEPGVTR KALNAHLRDS
160 170 180 190 200
GLWFPVDPGA DASLCGMAAT GASGTNAVRY GTMRDNVLNL EVVLPDGRLL
210 220 230 240 250
HTAGRGRHFR FGFWPEIPHH TAWYSPCVSL GRRKSAAGYN LTGLFVGSEG
260 270 280 290 300
TLGLITATTL RLHPAPEATV AATCAFPSVQ AAVDSTVHIL QAAVPVARIE
310 320 330 340 350
FLDEVMMDAC NRYSKLNCLV APTLFLEFHG SQQALEEQLQ RTEEIVQQNG
360 370 380 390 400
ASDFSWAKEA EERSRLWTAR HNAWYAALAT RPGCKGYSTD VCVPISRLPE
410 420 430 440 450
IVVQTKEDLN ASGLTGSIVG HVGDGNFHCI LLVNPDDAEE LGRVKAFAEQ
460 470 480 490 500
LGRRALALHG TCTGEHGIGM GKRQLLQEEV GAVGVETMRQ LKAVLDPQGL

MNPGKVL
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 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti323T → I in AAM50322 (PubMed:12127981).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029561233R → K.Corresponds to variant rs11644820dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_052253211 – 233Missing in isoform 2. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human. [Q86WU2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ86WU2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128242. 40 interactors.
IntActiQ86WU2. 36 interactors.
STRINGi9606.ENSP00000300051.

PTM databases

iPTMnetiQ86WU2.
PhosphoSitePlusiQ86WU2.

Polymorphism and mutation databases

BioMutaiLDHD.
DMDMi74727712.

Proteomic databases

MaxQBiQ86WU2.
PaxDbiQ86WU2.
PeptideAtlasiQ86WU2.
PRIDEiQ86WU2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300051; ENSP00000300051; ENSG00000166816. [Q86WU2-1]
ENST00000450168; ENSP00000417011; ENSG00000166816. [Q86WU2-2]
GeneIDi197257.
KEGGihsa:197257.
UCSCiuc002fdm.4. human. [Q86WU2-1]

Organism-specific databases

CTDi197257.
DisGeNETi197257.
GeneCardsiLDHD.
HGNCiHGNC:19708. LDHD.
HPAiHPA041766.
HPA048639.
HPA066148.
MIMi607490. gene.
neXtProtiNX_Q86WU2.
OpenTargetsiENSG00000166816.
PharmGKBiPA134917525.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1231. Eukaryota.
COG0277. LUCA.
GeneTreeiENSGT00530000063515.
HOGENOMiHOG000230995.
HOVERGENiHBG066407.
InParanoidiQ86WU2.
KOiK00102.
OMAiGQGFEWA.
OrthoDBiEOG091G0BAW.
PhylomeDBiQ86WU2.
TreeFamiTF314122.

Enzyme and pathway databases

BioCyciMetaCyc:HS15490-MONOMER.
ZFISH:HS15490-MONOMER.
ReactomeiR-HSA-1268020. Mitochondrial protein import.

Miscellaneous databases

GenomeRNAii197257.
PROiQ86WU2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166816.
CleanExiHS_LDHD.
ExpressionAtlasiQ86WU2. baseline and differential.
GenevisibleiQ86WU2. HS.

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]
ProtoNetiSearch...

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: November 2, 2016
This is version 116 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.