LDHC (lactate dehydrogenase C)

Gene

• Entrez ID: 3948
• Gene name: Lactate dehydrogenase C
• Gene symbol: LDHC
• Synonyms (NCBI Gene): CT32, LDH3, LDHX
• Chromosome: 11
• Chromosome location: 11p15.1
• 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 whi

Transcription factors

Transcription factor	Regulation	Reference
CREM	Unknown	9510963
SP1	Unknown	18930904

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004459	Function	L-lactate dehydrogenase (NAD+) activity	IBA
GO:0004459	Function	L-lactate dehydrogenase (NAD+) activity	IEA
GO:0004459	Function	L-lactate dehydrogenase (NAD+) activity	TAS	2440048
GO:0005515	Function	Protein binding	IPI	28514442, 33961781, 35271311
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IEA
GO:0006089	Process	Lactate metabolic process	IBA
GO:0006089	Process	Lactate metabolic process	IEA
GO:0006089	Process	Lactate metabolic process	NAS	33505966
GO:0006754	Process	ATP biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0019244	Process	Lactate biosynthetic process from pyruvate	IEA
GO:0019752	Process	Carboxylic acid metabolic process	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0042867	Process	Pyruvate catabolic process	IBA
GO:0042867	Process	Pyruvate catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1990204	Component	Oxidoreductase complex	NAS	33505966

Other IDs

• MIM: 150150
• HGNC: 6544
• e!Ensembl: ENSG00000166796

Protein

• UniProt ID: P07864
• Protein name: L-lactate dehydrogenase C chain (LDH-C) (EC 1.1.1.27) (Cancer/testis antigen 32) (CT32) (LDH testis subunit) (LDH-X)
• Protein function: Possible role in sperm motility.
• PDB: 7EPM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00056	Ldh_1_N	21 → 160	lactate/malate dehydrogenase, NAD binding domain	Family
  PF02866	Ldh_1_C	163 → 331	lactate/malate dehydrogenase, alpha/beta C-terminal domain	Domain

• Sequence:

  MSTVKEQLIEKLIEDDENSQCKITIVGTGAVGMACAISILLKDLADELALVDVALDKLKG
  EMMDLQHGSLFFSTSKITSGKDYSVSANSRIVIVTAGARQQEGETRLALVQRNVAIMKSI
  IPAIVHYSPDCKILVVSNPVDILTYIVWKISGLPVTRVIGSGCNLDSARFRYLIGEKLGV
  HPTSCHGWIIGEHGDSSVPLWSGVNVAGVALKTLDPKLGTDSDKEHWKNIHKQVIQSAYE
  IIKLKGYTSWAIGLSVMDLVGSILKNLRRVHPVSTMVKGLYGIKEELFLSIPCVLGRNGV
  SDVVKINLNSEEEALFKKSAETLWNIQKDLIF

• Sequence length: 332

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Cysteine and methionine metabolism
Pyruvate metabolism
Propanoate metabolism
Metabolic pathways
HIF-1 signaling pathway
Glucagon signaling pathway
Central carbon metabolism in cancer

Reactome:

Pyruvate metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HUMAN PAPILLOMA VIRUS INFECTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Associate	31932876, 34050611	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Stimulate	28351304	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Associate	29224923	★☆☆☆☆ Found in Text Mining only
Heart Failure	Associate	32892688	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	18930904, 28314283, 31932876, 34050611	★☆☆☆☆ Found in Text Mining only
Periprosthetic Fractures	Associate	35306116	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Stimulate	17178662	★☆☆☆☆ Found in Text Mining only