LDHC lactate dehydrogenase C [Homo sapiens (human)] - Gene

Summary

Official Symbol: LDHCprovided by HGNC
Official Full Name: lactate dehydrogenase Cprovided by HGNC
Primary source: HGNC:HGNC:6544
See related: Ensembl:ENSG00000166796 MIM:150150; AllianceGenome:HGNC:6544
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: CT32; LDH3; LDHX
Summary: Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 186.5) See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (18412318..18452063)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (18510444..18550172)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (18433865..18473610)

Chromosome 11 - NC_000011.10 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?

Targeting of lactate dehydrogenase C dysregulates the cell cycle and sensitizes breast cancer cells to DNA damage response targeted therapy.
Title: Targeting of lactate dehydrogenase C dysregulates the cell cycle and sensitizes breast cancer cells to DNA damage response targeted therapy.
Association between serum lactate dehydrogenase and 60-day mortality in Chinese Hakka patients with acute myeloid leukemia: A cohort study.
Title: Association between serum lactate dehydrogenase and 60-day mortality in Chinese Hakka patients with acute myeloid leukemia: A cohort study.
Diagnostic and prognostic value of the cancer-testis antigen lactate dehydrogenase C4 in breast cancer.
Title: Diagnostic and prognostic value of the cancer-testis antigen lactate dehydrogenase C4 in breast cancer.
a novel association between the methylation status of CpG sites within LDHC and the development of insulin autoantibodies in the first years of life
Title: Allele-specific methylation of type 1 diabetes susceptibility genes.
Lactate dehydrogenase C may act as a novel biomarker for renal cell carcinoma progression and a potential therapeutic target for the treatment of renal cell carcinoma.
Title: Expression of lactate dehydrogenase C correlates with poor prognosis in renal cell carcinoma.
three uniquely identified proteins (CDK6 , galectin-3-binding protein and LDH C) were found, which show tight connection with prostate cancer and presence of all of them was previously linked to certain aspects of prostate cancer
Title: Differences in urinary proteins related to surgical margin status after radical prostatectomy.
Down-regulated LDH-C4 expression is significantly correlated with lowered enzyme activity in human spermatozoa.
Title: Quick histochemical staining method for measuring lactate dehydrogenase C4 activity in human spermatozoa.
This is the first report to show a positive correlation between LDH-3 and hemolytic parameters in sickle cell anemia.
Title: Lactate dehydrogenase isoenzyme 3 and hemolysis in sickle cell anemia: a possible correlation?
Results show that S-100B, MIA and LDH levels were significantly higher in patients with advanced melanoma than in disease-free patients or healthy controls.
Title: Evaluation of multiple serum markers in advanced melanoma.
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.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A. 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

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

LDHC (e-PCR)
- UniSTS:21287

RH98700 (e-PCR)
- UniSTS:87291

STS-U13680 (e-PCR)
- UniSTS:49406

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-lactate dehydrogenase activity	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 ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	IEA Inferred from Electronic Annotation more info
involved_in lactate biosynthetic process from pyruvate	IEA Inferred from Electronic Annotation more info
involved_in lactate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lactate metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in pyruvate catabolic process	IEA Inferred from Electronic Annotation more info
involved_in pyruvate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in pyruvate metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
part_of oxidoreductase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: L-lactate dehydrogenase C chain

Names: LDH testis subunit; LDH-C; LDH-X; cancer/testis antigen 32; lactate dehydrogenase C4; testis secretory sperm-binding protein Li 234P

NP_002292.1

EC 1.1.1.27

NP_059144.1

EC 1.1.1.27

XP_047282890.1

EC 1.1.1.27

XP_054224722.1

EC 1.1.1.27

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.

Genomic

NG_011816.2 RefSeqGene

Range

5002..44747

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002301.5 → NP_002292.1 L-lactate dehydrogenase C chain

See identical proteins and their annotated locations for NP_002292.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC027544, AC084117

Consensus CDS

CCDS7840.1

UniProtKB/Swiss-Prot

D3DQY4, P07864, Q6GSG8, Q7Z7J4

UniProtKB/TrEMBL

A0A140VKA7, D6NKH9, G9BCY7, G9BCY8

Related

ENSP00000280704.3, ENST00000280704.8

Conserved Domains (1) summary

cd05293
Location:18 → 329

LDH_1; A subgroup of L-lactate dehydrogenases
NM_017448.5 → NP_059144.1 L-lactate dehydrogenase C chain

See identical proteins and their annotated locations for NP_059144.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC027544, AC084117

Consensus CDS

CCDS7840.1

UniProtKB/Swiss-Prot

D3DQY4, P07864, Q6GSG8, Q7Z7J4

UniProtKB/TrEMBL

A0A140VKA7, D6NKH9, G9BCY7, G9BCY8

Related

ENSP00000437783.1, ENST00000541669.6

Conserved Domains (1) summary

cd05293
Location:18 → 329

LDH_1; A subgroup of L-lactate dehydrogenases