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Aliases for LDHAL6A Gene
Aliases for LDHAL6A Gene
External Ids for LDHAL6A Gene
- HGNC: 28335
- Entrez Gene: 160287
- Ensembl: ENSG00000166800
- UniProtKB: Q6ZMR3
Previous GeneCards Identifiers for LDHAL6A Gene
- 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 for LDHAL6A Gene
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 | 500.7 | +0.0 | 13 | 0.1 | E2F6 NRF1 EGR1 RNF2 BACH1 | LDHAL6A HSALNG0083007 | |
| GH11J018382 | Promoter/Enhancer | 1.8 | FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 5.8 | -71.8 | -71750 | 3 | ZBTB40 TCF12 POLR2G GTF2E2 FOS ZFX POLR2A ZBTB11 TCF7 RFX1 | LDHC LDHA LDHAL6A SPTY2D1 HPS5 TSG101 MIR3159 lnc-GTF2H1-2 | |
| GH11J018457 | Enhancer | 0.9 | Ensembl ENCODE | 10.5 | +2.1 | 2143 | 0.9 | REST CEBPB FOS JUN RCOR1 FOSL1 JUND MAX NR2F1 MXI1 | LDHAL6A GTF2H1 HPS5 HSALNG0083007 | |
| GH11J018448 | Enhancer | 0.3 | Ensembl | 5.6 | -6.3 | -6323 | 1.4 | SPI1 | ENSG00000256734 lnc-TSG101-2 LDHC LDHA GTF2H1 HPS5 YWHABP2 LDHAL6A | |
| GH11J018453 | Enhancer | 0.4 | Ensembl | 0.7 | -2.5 | -2524 | 0.2 | FOSL1 ATF3 HMBOX1 FOS | ENSG00000256734 LDHAL6A lnc-TSG101-2 |
- 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 UCSC Golden Path with GeneCards custom track
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
Genomic Locations for LDHAL6A Gene
- chr11:18,455,824-18,479,601
- (GRCh38/hg38)
- Size:
- 23,778 bases
- Orientation:
- Plus strand
- chr11:18,477,371-18,501,147
- (GRCh37/hg19)
- 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:
-
- 11p15.1 by HGNC
- 11p15.1 by Entrez Gene
- 11p15.1 by Ensembl
LDHAL6A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LDHAL6A Gene
Proteins for LDHAL6A Gene
-
Protein details for LDHAL6A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6ZMR3-LDH6A_HUMAN
- Recommended name:
- L-lactate dehydrogenase A-like 6A
- Protein Accession:
- Q6ZMR3
- D3DQY5
Protein attributes for LDHAL6A Gene
- Size:
- 332 amino acids
- Molecular mass:
- 36507 Da
- Quaternary structure:
- No Data Available
Protein Expression for LDHAL6A Gene
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
Other Protein References for LDHAL6A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-LDHAL6A monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for LDHAL6A
- Novus Biologicals Antibodies for LDHAL6A
- Invitrogen Antibodies for LDHAL6A (AFLGC-LDHAL6A)
Protein Products
-
OriGene Purified Proteins for LDHAL6A
- Search Origene for MassSpec and Protein Over-expression Lysates for LDHAL6A
- Origene Custom Protein Services for LDHAL6A
-
Abcam proteins for LDHAL6A
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
- Blocks:
-
- UBA/THIF-type NAD/FAD binding fold
- L-lactate dehydrogenase
- L-lactate dehydrogenase
- InterPro:
- 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- Family:
-
- Belongs to the LDH/MDH superfamily. LDH family.
Function for LDHAL6A Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004459 | L-lactate dehydrogenase activity | IEA | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016616 | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | IEA | -- |
Phenotypes for LDHAL6A Gene
- GenomeRNAi human phenotypes for LDHAL6A:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
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-
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- Overview of 43 available LDHAL6A gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for LDHAL6A
miRNA for LDHAL6A Gene
- miRTarBase miRNAs that target LDHAL6A
miRNA Products
Inhibitory RNA Products
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- Overview of 43 available LDHAL6A gene related products
Clone Products
- Applied Biological Materials (abm): Clones for LDHAL6A - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for LDHAL6A
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Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0070062 | extracellular exosome | HDA | 23533145 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for LDHAL6A Gene
Pathways & Interactions for LDHAL6A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Pyruvate metabolism and Citric Acid (TCA) cycle | ||
| 3 | Central carbon metabolism in cancer | ||
| 4 | Sulfur amino acid metabolism | ||
| 5 | Glucagon signaling pathway | ||
Pathways by source for LDHAL6A Gene
4 Reactome pathways for LDHAL6A Gene
8 KEGG pathways for LDHAL6A Gene
UniProtKB/Swiss-Prot Q6ZMR3-LDH6A_HUMAN
- Pathway: Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.
Interacting Proteins for LDHAL6A Gene
GPS-Prot Interaction Network for LDHAL6A
| 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 | -- |
No data available for SIGNOR curated interactions for LDHAL6A Gene
Drugs & Compounds for LDHAL6A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| NADH | Approved | Nutra | Target | 0 | ||
| Pyruvic acid | Approved, Investigational | Nutra | 0 | |||
| 2-Ketobutyric acid | Experimental | Pharma | 0 | |||
| D-Lactic acid | Experimental | Pharma | Full agonist, Agonist | 0 | ||
| NAD | Experimental | Pharma | Full agonist, Agonist, Activator | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 2-Hydroxybutyric acid |
|
600-15-7 |
|
|||
| 3-Mercaptolactic acid |
|
2614-83-7 |
|
|||
| 3-Mercaptopyruvic acid |
|
2464-23-5 |
|
|||
| Hydrogen Ion |
|
|
Transcripts for LDHAL6A Gene
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 :
-
- ENST00000280706 2555 bps (ENST00000280706.3)
- ENST00000396213 1716 bps (ENST00000396213.7)
- ENST00000615355 1042 bps (ENST00000615355.4)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for LDHAL6A - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LDHAL6A
- genomics-online: gRNA clones - Search for available LDHAL6A gRNA products
- Overview of 43 available LDHAL6A gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for LDHAL6A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LDHAL6A
- Browse OriGene Inhibitory RNA Products For LDHAL6A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDHAL6A
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- Overview of 43 available LDHAL6A gene related products
Clone Products
- Applied Biological Materials (abm): Clones for LDHAL6A - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for LDHAL6A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LDHAL6A
Relevant External Links for LDHAL6A Gene
- GeneLoc Exon Structure for
- LDHAL6A
Expression for LDHAL6A Gene
mRNA differential expression in normal tissues according to GTEx for LDHAL6A Gene
This gene is overexpressed in Testis (x22.2).
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.668877mRNA 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(4.1)
Primer Products
-
OriGene qPCR primer pairs for LDHAL6A
-
OriGene qPCR primer pairs and template standards for LDHAL6A
- genomics-online: primer clones - Search for available LDHAL6A Primer products
- Overview of 43 available LDHAL6A gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LDHAL6A 31 30 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | LDHA 31 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | ldha 31 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | ImpL3 31 |
|
ManyToMany | |
| CG13334 31 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | ldh-1 31 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.11301 31 |
|
OneToMany |
- Species where no ortholog for LDHAL6A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
Variants 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 |
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 Assay Products
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dressler's syndrome |
|
|
| myxedema |
|
|
Search LDHAL6A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for LDHAL6A
No data available for UniProtKB/Swiss-Prot and Genatlas for LDHAL6A Gene
Publications for LDHAL6A Gene
- 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 54
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
- 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 54
- ∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. (PMID: 26618866) Pankow S … Yates JR (Nature 2015) 3 54
- Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 54
ExternalLinks
Products for LDHAL6A Gene
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Sources for LDHAL6A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
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