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LDHD lactate dehydrogenase D [ Homo sapiens (human) ]

Gene ID: 197257, updated on 21-Apr-2019

Summary

Official Symbol
LDHDprovided by HGNC
Official Full Name
lactate dehydrogenase Dprovided by HGNC
Primary source
HGNC:HGNC:19708
See related
Ensembl:ENSG00000166816 MIM:607490
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
DLD; DLACD
Summary
The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Broad expression in kidney (RPKM 28.2), liver (RPKM 23.6) and 15 other tissues See more
Orthologs

Genomic context

See LDHD in Genome Data Viewer
Location:
16q23.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (75111860..75116795, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75145758..75150670, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 59 Neighboring gene zinc and ring finger 1 Neighboring gene ZFP1 zinc finger protein Neighboring gene RPS4Y1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
NHGRI GWA Catalog
Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120/41 (SFVenvBX08)-expressing microglia exhibit a 170% increase in lactate dehydrogenase (LDH) release PubMed
Envelope transmembrane glycoprotein gp41 env A lentivirus lytic peptide 1 (LLP-1) corresponding to the carboxyl terminus of HIV-1 gp41 induces a significant lactate dehydrogenase (LDH, a marker of cell death) release from human neuronal and glial cell lines PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC57726

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FAD binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
probable D-lactate dehydrogenase, mitochondrial
Names
D-lactate dehydrogenase
NP_705690.2
NP_919417.1
XP_024305942.1
XP_024305943.1
XP_024305944.1
XP_024305945.1
XP_024305946.1
XP_024305947.1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_153486.3NP_705690.2  probable D-lactate dehydrogenase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_705690.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC099508, BC040279
    Consensus CDS
    CCDS10913.1
    UniProtKB/Swiss-Prot
    Q86WU2
    Related
    ENSP00000300051.4, ENST00000300051.8
    Conserved Domains (1) summary
    cl28072
    Location:29507
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain
  2. NM_194436.2NP_919417.1  probable D-lactate dehydrogenase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_919417.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC099508, BC040279, BM544922
    Consensus CDS
    CCDS45529.1
    UniProtKB/Swiss-Prot
    Q86WU2
    Related
    ENSP00000417011.2, ENST00000450168.2
    Conserved Domains (3) summary
    COG0277
    Location:34484
    GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]
    pfam01565
    Location:66202
    FAD_binding_4; FAD binding domain
    pfam02913
    Location:243483
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    75111860..75116795 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450178.1XP_024305946.1  probable D-lactate dehydrogenase, mitochondrial isoform X5

    Conserved Domains (1) summary
    cl28072
    Location:29524
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain
  2. XM_024450175.1XP_024305943.1  probable D-lactate dehydrogenase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl28072
    Location:29547
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain
  3. XM_024450176.1XP_024305944.1  probable D-lactate dehydrogenase, mitochondrial isoform X3

    Conserved Domains (1) summary
    cl28072
    Location:125544
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain
  4. XM_024450174.1XP_024305942.1  probable D-lactate dehydrogenase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl28072
    Location:125567
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain
  5. XM_024450179.1XP_024305947.1  probable D-lactate dehydrogenase, mitochondrial isoform X6

    Conserved Domains (1) summary
    cl28072
    Location:125504
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain
  6. XM_024450177.1XP_024305945.1  probable D-lactate dehydrogenase, mitochondrial isoform X4

    Conserved Domains (1) summary
    cl28072
    Location:125527
    FAD-oxidase_C; FAD linked oxidases, C-terminal domain
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