GAPDHS
Glyceraldehyde-3-Phosphate Dehydrogenase, Spermatogenic
Gene Information Card
| Symbol | GAPDHS |
|---|---|
| Full Name | Glyceraldehyde-3-Phosphate Dehydrogenase, Spermatogenic |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 26330 ncbi.nlm.nih.gov/gene/26330 |
| Ensembl ID | ENSG00000105679 |
| UniProt ID | O14556 |
| OMIM ID | 609169 |
| HGNC ID | 24864 |
| Aliases | GAPD2, GAPDS, HEL-S-278, hGAPDS, GAPDH-2 |
Description
GAPDHS encodes a spermatogenic cell-specific isoform of glyceraldehyde-3-phosphate dehydrogenase, a key enzyme in glycolysis. This testis-specific enzyme is localized to the fibrous sheath of the sperm flagellum and is essential for ATP production required for sperm motility. Mutations in GAPDHS are associated with male infertility due to asthenozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Loss-of-function mutations impair sperm glycolysis and motility, leading to reduced ATP production in sperm flagellum. | ClinVar, OMIM |
| Spermatogenic failure | Deficiency in GAPDHS disrupts energy metabolism in developing sperm cells. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression; localized to fibrous sheath |
| Testicular germ cells | N/A | High expression in spermatocytes and spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.449G>A (p.Arg150His) | Missense | Rare | Reduced enzymatic activity; associated with asthenozoospermia |
| c.784C>T (p.Arg262*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish GAPDHS enzymatic activity, leading to impaired sperm glycolysis and motility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • glyceraldehyde-3-phosphate dehydrogenase activity | • NAD binding |
| • glycolytic process | • sperm motility |
| • spermatogenesis | • fibrous sheath |
Pathways
• Glycolysis / Gluconeogenesis
• Metabolic pathways
Protein Summary
GAPDHS is a 408-amino acid protein that functions as a homotetramer. It catalyzes the oxidative phosphorylation of glyceraldehyde-3-phosphate to 1,3-bisphosphoglycerate in glycolysis. The protein contains a catalytic domain and an NAD-binding domain. It is specifically expressed in testis and localized to the fibrous sheath of the sperm flagellum, where it provides ATP for flagellar movement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAPDHS Knockout HEK293 Cell Line | EDJ-KQ8516 | Human | 26330 | Details Get a Quote |
| GAPDHS Knockout HeLa Cell Line | EDJ-KQ55930 | Human | 26330 | Details Get a Quote |
| GAPDHS Knockout A-549 Cell Line | EDJ-KQ64417 | Human | 26330 | Details Get a Quote |
| GAPDHS Knockout HCT 116 Cell Line | EDJ-KQ72871 | Human | 26330 | Details Get a Quote |
