LDHAL6A Gene (Protein Coding)

Lactate Dehydrogenase A Like 6A

GC11P018456
GIFtS:
37
See more...

Aliases for LDHAL6A Gene

Aliases for LDHAL6A Gene

  • Lactate Dehydrogenase A Like 6A 2 3 5
  • L-Lactate Dehydrogenase A-Like 6A 3 4
  • LDHA-Like Protein 6A 3 4
  • EC 1.1.1.27 4 51
  • LDH6A 2 3
  • MGC23940 2
  • EC 1.1.1 51
  • LDHAL6A 5
  • LDHL2 4

External Ids for LDHAL6A Gene

Previous GeneCards Identifiers for LDHAL6A Gene

  • GC11P018434
  • GC11P018163

Summaries for LDHAL6A Gene

GeneCards Summary for LDHAL6A Gene

LDHAL6A (Lactate Dehydrogenase A Like 6A) is a Protein Coding gene. Diseases associated with LDHAL6A include Dressler's Syndrome and Myxedema. Among its related pathways are Central carbon metabolism in cancer and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and L-lactate dehydrogenase activity. An important paralog of this gene is LDHAL6B.

UniProtKB/Swiss-Prot Summary for LDHAL6A Gene

  • Displays an lactate dehydrogenase activity. Significantly increases the transcriptional activity of JUN, when overexpressed.

Additional gene information for LDHAL6A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LDHAL6A Gene

Genomics for LDHAL6A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LDHAL6A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J018455 Promoter 0.6 EPDnew 250.7 +0.0 13 0.1 NRF1 BACH1 EGR1 LDHAL6A HSALNG0083007 TSG101
GH11J018382 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.8 -71.8 -71750 3 BCL11A CEBPA DEK IRF2 ELF1 CEBPB ZNF395 GTF2E2 FOXA2 SMAD4 HSALNG0082999 LDHC LDHA LDHAL6A SPTY2D1 HPS5 TSG101 MIR3159
GH11J018457 Enhancer 0.8 Ensembl ENCODE 10.5 +2.1 2143 0.9 BHLHE40 CEBPB MAX EP300 RFX5 STAT3 FOSL1 TCF7L2 USF2 JUND LDHAL6A GTF2H1 HPS5 HSALNG0083007 TSG101
GH11J018448 Enhancer 0.3 Ensembl 5.6 -6.3 -6323 1.4 SPI1 ENSG00000256734 lnc-TSG101-2 LDHC LDHA GTF2H1 HPS5 YWHABP2 LDHAL6A HSALNG0083005
GH11J018489 Enhancer 0.9 Ensembl ENCODE 0.3 +35.8 35843 4.6 VEZF1 ZEB2 TAL1 SKIL FOSL1 SMARCA4 HDAC2 STAT5A FOXM1 TCF12 YWHABP2 lnc-UEVLD-5 TSG101 LDHC GTF2H1 HPS5 LDHA SPTY2D1OS ENSG00000256282 SPTY2D1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LDHAL6A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LDHAL6A

Top Transcription factor binding sites by QIAGEN in the LDHAL6A gene promoter:
  • CUTL1
  • E47
  • GATA-1
  • GATA-2
  • GATA-3
  • Hand1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b

Genomic Locations for LDHAL6A Gene

Latest Assembly
chr11:18,455,824-18,479,601
(GRCh38/hg38)
Size:
23,778 bases
Orientation:
Plus strand

Previous Assembly
chr11:18,477,403-18,501,148
(GRCh37/hg19 by Entrez Gene)
Size:
23,746 bases
Orientation:
Plus strand

chr11:18,477,371-18,501,147
(GRCh37/hg19 by Ensembl)
Size:
23,777 bases
Orientation:
Plus strand

Genomic View for LDHAL6A Gene

Genes around LDHAL6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LDHAL6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LDHAL6A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LDHAL6A Gene

Proteins for LDHAL6A Gene

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  • Protein details for LDHAL6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMR3-LDH6A_HUMAN
    Recommended name:
    L-lactate dehydrogenase A-like 6A
    Protein Accession:
    Q6ZMR3
    Secondary Accessions:
    • D3DQY5

    Protein attributes for LDHAL6A Gene

    Size:
    332 amino acids
    Molecular mass:
    36507 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LDHAL6A Gene

Protein Expression for LDHAL6A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for LDHAL6A Gene

Q6ZMR3:
  • GEHGDSSV
  • MDLQHGS
  • KLSGFPK
  • LNPDIGT
  • NLRRVHP
  • PKNRVIG
  • NLDSARFR
  • KSAETLW
  • NPVDILT
  • ILGEHGD
  • LVIITAGARQ
  • LDSARFR
  • ACAISIL
  • IGSGCNLD
  • GFPKNRV

Post-translational modifications for LDHAL6A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LDHAL6A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for LDHAL6A Gene

Gene Families for LDHAL6A Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for LDHAL6A Gene

InterPro:
Blocks:
  • UBA/THIF-type NAD/FAD binding fold
  • L-lactate dehydrogenase
  • L-lactate dehydrogenase
ProtoNet:

Suggested Antigen Peptide Sequences for LDHAL6A Gene

GenScript: Design optimal peptide antigens:
  • L-lactate dehydrogenase A-like 6A (LDH6A_HUMAN)
  • L-lactate dehydrogenase (Q96L19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZMR3

UniProtKB/Swiss-Prot:

LDH6A_HUMAN :
  • Belongs to the LDH/MDH superfamily. LDH family.
Family:
  • Belongs to the LDH/MDH superfamily. LDH family.
genes like me logo Genes that share domains with LDHAL6A: view

Function for LDHAL6A Gene

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  6. Cell Lines for research

Molecular function for LDHAL6A Gene

UniProtKB/Swiss-Prot Function:
Displays an lactate dehydrogenase activity. Significantly increases the transcriptional activity of JUN, when overexpressed.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-lactate + NAD(+) = H(+) + NADH + pyruvate; Xref=Rhea:RHEA:23444, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16651, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.27;.

Enzyme Numbers (IUBMB) for LDHAL6A Gene

Phenotypes From GWAS Catalog for LDHAL6A Gene

Gene Ontology (GO) - Molecular Function for LDHAL6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004459 L-lactate dehydrogenase activity IEA,IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with LDHAL6A: view
genes like me logo Genes that share phenotypes with LDHAL6A: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDHAL6A

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LDHAL6A Gene

Localization for LDHAL6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDHAL6A Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LDHAL6A gene
Compartment Confidence
extracellular 4
cytosol 4
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LDHAL6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with LDHAL6A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LDHAL6A Gene

Pathways & Interactions for LDHAL6A Gene

genes like me logo Genes that share pathways with LDHAL6A: view

UniProtKB/Swiss-Prot Q6ZMR3-LDH6A_HUMAN

  • Pathway: Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.

Gene Ontology (GO) - Biological Process for LDHAL6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0019752 carboxylic acid metabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with LDHAL6A: view

No data available for SIGNOR curated interactions for LDHAL6A Gene

Drugs & Compounds for LDHAL6A Gene

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(5) Drugs for LDHAL6A Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
L-Lactic acid Approved, Experimental Pharma 0
Pyruvic acid Approved, Investigational Nutra 0
2-Ketobutyric acid Experimental Pharma 0
NAD Experimental Pharma 0

(4) Additional Compounds for LDHAL6A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxybutyric acid
  • (S)-2-Hydroxybutanoic acid
  • 2-Hydroxybutyrate
  • 2-Hydroxybutyric acid
  • L-2-Hydroxybutanoic acid
  • L-2-Hydroxybutyric acid
 3347-90-8
3-Mercaptolactic acid
  • 3-Mercaptolactate
  • b-Mercaptolactate
  • b-Mercaptolactic acid
  • beta-Mercaptolactate
  • beta-Mercaptolactic acid
 2614-83-7
3-Mercaptopyruvic acid
  • 3-Mercapto-2-oxopropanoic acid
  • 3-Mercaptopyruvate
  • Mercaptopyruvate
  • 3-Mercapto-2-oxopropanoate
  • Mercaptopyruvic acid
 2464-23-5
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with LDHAL6A: view

Transcripts for LDHAL6A Gene

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mRNA/cDNA for LDHAL6A Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDHAL6A

Alternative Splicing Database (ASD) splice patterns (SP) for LDHAL6A Gene

No ASD Table

Relevant External Links for LDHAL6A Gene

GeneLoc Exon Structure for
LDHAL6A

Expression for LDHAL6A Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LDHAL6A Gene

mRNA expression in normal human tissues for LDHAL6A Gene
mRNA expression by GTEx for LDHAL6A Gene

mRNA differential expression in normal tissues according to GTEx for LDHAL6A Gene

This gene is overexpressed in Testis (x22.2).

Protein differential expression in normal tissues from HIPED for LDHAL6A Gene

This gene is overexpressed in Liver (50.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LDHAL6A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LDHAL6A

SOURCE GeneReport for Unigene cluster for LDHAL6A Gene:

Hs.668877

mRNA Expression by UniProt/SwissProt for LDHAL6A Gene:

Q6ZMR3-LDH6A_HUMAN
Tissue specificity: Testis-specific.

Evidence on tissue expression from TISSUES for LDHAL6A Gene

  • Nervous system(4.3)
  • Muscle(2.5)
  • Heart(2.4)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with LDHAL6A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LDHAL6A Gene

Orthologs for LDHAL6A Gene

This gene was present in the common ancestor of animals.

Orthologs for LDHAL6A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LDHAL6A 30 31
  • 99.9 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 65 (a)
 ManyToMany
-- 31
  • 56 (a)
 ManyToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 59 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves LDHA 31
  • 69 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 69 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii ldha 31
  • 67 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta ImpL3 31
  • 57 (a)
 ManyToMany
CG13334 31
  • 35 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea ldh-1 31
  • 53 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.11301 31
  • 49 (a)
 OneToMany
Species where no ortholog for LDHAL6A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for LDHAL6A Gene

ENSEMBL:
Gene Tree for LDHAL6A (if available)
TreeFam:
Gene Tree for LDHAL6A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LDHAL6A: view image

Paralogs for LDHAL6A Gene

Paralogs for LDHAL6A Gene

(5) SIMAP similar genes for LDHAL6A Gene using alignment to 2 proteins:

  • LDH6A_HUMAN
  • Q96L19_HUMAN
genes like me logo Genes that share paralogs with LDHAL6A: view

Variants for LDHAL6A Gene

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dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LDHAL6A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LDHAL6A Gene

Variant ID Type Subtype PubMed ID
esv2744170 CNV deletion 23290073
esv2744171 CNV deletion 23290073
esv2744172 CNV deletion 23290073
esv3625502 CNV loss 21293372
nsv467719 CNV gain 19166990
nsv509392 CNV insertion 20534489
nsv510999 OTHER complex 20534489
nsv553633 CNV gain 21841781
nsv553634 CNV gain 21841781

Variation tolerance for LDHAL6A Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LDHAL6A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LDHAL6A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LDHAL6A Gene

Disorders for LDHAL6A Gene

MalaCards: The human disease database

(2) MalaCards diseases for LDHAL6A Gene - From: COP

Disorder Aliases PubMed IDs
dressler's syndrome
  • dressler syndrome
myxedema
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LDHAL6A

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LDHAL6A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LDHAL6A Gene

Publications for LDHAL6A Gene

  1. Identification of a novel human lactate dehydrogenase gene LDHAL6A, which activates transcriptional activities of AP1(PMA). (PMID: 18351441) Chen X … Yu L (Molecular biology reports 2009) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling. (PMID: 29128334) Malty RH … Babu M (Cell systems 2017) 3
  4. ∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. (PMID: 26618866) Pankow S … Yates JR (Nature 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3

ExternalLinks

View latest publications for LDHAL6A gene in Mastermind

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Sources for LDHAL6A Gene