Version: 8.0.0Date: Tue Jan 28 2025
Gene
GAPDH
- Species
- Homo sapiens
- Symbol
- GAPDH
- Name
- glyceraldehyde-3-phosphate dehydrogenase
- Synonyms
- aging-associated gene 9 protein
- epididymis secretory sperm binding protein Li 162eP
- Biotype
- protein coding gene
- Automated Description
- Enables aspartic-type endopeptidase inhibitor activity; disordered domain specific binding activity; and identical protein binding activity. Involved in several processes, including defense response to symbiont; negative regulation of protein metabolic process; and positive regulation of canonical NF-kappaB signal transduction. Located in several cellular components, including cytosol; lipid droplet; and nuclear membrane. Part of GAIT complex; nucleus; and ribonucleoprotein complex. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease and lymphangioleiomyomatosis.
- RGD Description
- This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10836
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr12:6534512...6538374 + (3.86 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.