GMCL1: Germ Cell-Less 1, Spermatogenesis Regulator
A key transcriptional repressor involved in germ cell development and potential tumor suppression.
Gene Information Card
| Symbol | GMCL1 |
|---|---|
| Full Name | Germ Cell-Less 1, Spermatogenesis Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 64395 ncbi.nlm.nih.gov/gene/64395 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q96MC6 |
| OMIM ID | 609618 |
| HGNC ID | 24293 |
| Aliases | GCL, GCL1, germ cell-less |
Description
GMCL1 encodes a nuclear protein that functions as a transcriptional repressor. It is highly expressed in testis and plays a critical role in spermatogenesis by regulating germ cell development. The protein interacts with the DP family of transcription factors and represses E2F-mediated transcription, thereby controlling cell cycle progression. GMCL1 has also been implicated in tumor suppression through its regulation of apoptosis and cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Altered GMCL1 expression disrupts germ cell development, leading to impaired spermatogenesis. | PMID: 12374797 |
| Prostate cancer | GMCL1 downregulation is associated with increased cell proliferation and tumor progression. | PMID: 23431136 |
| Hepatocellular carcinoma | Reduced GMCL1 expression correlates with poor prognosis and enhanced tumor growth. | PMID: 25636800 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Brain | 4.1 | Low |
| Liver | 2.8 | Low |
| Kidney | 1.9 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 12.5 | High expression |
| HepG2 (hepatocellular carcinoma) | 3.2 | Moderate expression |
| PC-3 (prostate cancer) | 2.1 | Low expression |
| MCF7 (breast cancer) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown significance, reported in ClinVar |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in GMCL1 are predicted to impair transcriptional repression, leading to deregulated cell cycle and apoptosis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GMCL1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for GMCL1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• E2F transcription factor network
• Apoptosis modulation
• Cell cycle regulation
Protein Summary
GMCL1 is a 240-amino acid nuclear protein that acts as a transcriptional repressor. It contains a BTB/POZ domain at the N-terminus, which mediates protein-protein interactions and transcriptional repression. GMCL1 binds to DP family members and inhibits E2F/DP heterodimer activity, thereby suppressing genes involved in cell cycle progression. The protein is essential for normal spermatogenesis and may function as a tumor suppressor in various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GMCL1 Knockout HEK293 Cell Line | EDJ-KQ11946 | Human | 64395 | Details Get a Quote |
| GMCL1 Knockout A-549 Cell Line | EDJ-KQ40463 | Human | 64395 | Details Get a Quote |
| GMCL1 Knockout HCT 116 Cell Line | EDJ-KQ40464 | Human | 64395 | Details Get a Quote |
| GMCL1 Knockout HeLa Cell Line | EDJ-KQ40465 | Human | 64395 | Details Get a Quote |
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