LDHD lactate dehydrogenase D [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:19708
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: mouse all
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Genomic context

Location:: 16q23.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (75111864..75116780, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (81158564..81163478, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (75145762..75150678, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Systematic analysis of the role of LDHs subtype in pan-cancer demonstrates the importance of LDHD in the prognosis of hepatocellular carcinoma patients.
Title: Systematic analysis of the role of LDHs subtype in pan-cancer demonstrates the importance of LDHD in the prognosis of hepatocellular carcinoma patients.
Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene.
Title: Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene.
Cancer/testis antigen LDHC promotes proliferation and metastasis by activating the PI3K/Akt/GSK-3beta-signaling pathway and the in lung adenocarcinoma.
Title: Cancer/testis antigen LDHC promotes proliferation and metastasis by activating the PI3K/Akt/GSK-3β-signaling pathway and the in lung adenocarcinoma.
gout can be caused by a mutation in LDHD within the putative catalytic site of the encoded d-lactate dehydrogenase, resulting in augmented blood levels of d-lactate, a stereoisomer of l-lactate
Title: Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
The activity and expression of the mitochondrial D-lactate dehydrogenase, is higher in prostate cancer versus normal prostate cells.
Title: Prostate cancer cells metabolize d-lactate inside mitochondria via a D-lactate dehydrogenase which is more active and highly expressed than in normal cells.
Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency.
Title: Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
identification and characterization of human and mouse D-lactate dehydrogenase (NAD) [D-LDH]
Title: Identification of putative mammalian D-lactate dehydrogenase enzymes.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lactic aciduria due to D-lactic acid MedGen: C5193006 OMIM: 245450 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-lactate dehydrogenase (cytochrome) activity	IBA Inferred from Biological aspect of Ancestor more info
enables D-lactate dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables FAD binding	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in lactate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lactate catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: probable D-lactate dehydrogenase, mitochondrial

Names: D-lactate dehydrogenase

NP_705690.2

EC 1.1.2.4

NP_919417.1

EC 1.1.2.4

NCBI Reference Sequences (RefSeq)

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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)

NM_153486.4 → NP_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, Q8IZK5

Related

ENSP00000300051.4, ENST00000300051.8

Conserved Domains (1) summary

cl28072
Location:29 → 507

FAD-oxidase_C; FAD linked oxidases, C-terminal domain
NM_194436.3 → NP_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, ENST00000450168.3

Conserved Domains (3) summary

COG0277
Location:34 → 484

GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]

pfam01565
Location:66 → 202

FAD_binding_4; FAD binding domain

pfam02913
Location:243 → 483

FAD-oxidase_C; FAD linked oxidases, C-terminal domain