ZGLP1: Zinc Finger GATA-Like Protein 1
Transcriptional regulator involved in germ cell development and meiotic progression
Gene Information Card
| Symbol | ZGLP1 |
|---|---|
| Full Name | zinc finger GATA-like protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 100287171 ncbi.nlm.nih.gov/gene/100287171 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | A0A1B0GTV4 |
| OMIM ID | 618828 |
| HGNC ID | 44196 |
| Aliases | GATA-like zinc finger protein 1, bA16L21.2.1 |
Description
ZGLP1 encodes a zinc finger protein with GATA-like domains, functioning as a transcriptional regulator essential for germ cell development and meiotic entry. It is predominantly expressed in the ovary and testis, where it promotes the transition from mitosis to meiosis by activating meiotic genes. ZGLP1 interacts with retinoic acid signaling pathways and is critical for female fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature ovarian failure | Loss-of-function mutations impair meiotic initiation, leading to ovarian follicle depletion | OMIM #618828; PMID: 32203467 |
| Non-obstructive azoospermia | Disrupted spermatogenesis due to defective meiotic progression | ClinVar; PMID: 32203467 |
| Primary ovarian insufficiency | Homozygous truncating variants cause early menopause and infertility | OMIM #618828; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 8.3 | Low |
| Fallopian tube | 2.1 | Not detected |
| Uterus | 1.5 | Not detected |
| Breast | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 0.2 | Not detected |
| HeLa | 0.1 | Not detected |
| HepG2 | 0.3 | Not detected |
| Ovary-derived granulosa cells | 15.0 | High (RNA-seq data) |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of C-terminal domain |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature termination |
| c.2101G>A (p.Gly701Arg) | Missense | Unknown | Likely damaging; disrupts zinc finger structure |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination, abolishing transcriptional activation of meiotic genes.
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)
| • DNA-binding transcription factor activity | • zinc ion binding |
| • regulation of meiotic cell cycle | • germ cell development |
| • female gamete generation | • male gamete generation |
Pathways
• Retinoic acid signaling in meiosis
• Meiotic initiation in germ cells
Protein Summary
ZGLP1 is a nuclear zinc finger protein containing GATA-like domains that bind DNA and regulate transcription. It is essential for meiotic entry in both male and female germ cells, acting downstream of retinoic acid signaling. Loss of ZGLP1 function leads to meiotic arrest, resulting in premature ovarian failure and non-obstructive azoospermia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZGLP1 Knockout HEK293 Cell Line | EDJ-KQ11990 | Human | 100125288 | Details Get a Quote |
| ZGLP1 Knockout A-549 Cell Line | EDJ-KQ40562 | Human | 100125288 | Details Get a Quote |
| ZGLP1 Knockout HCT 116 Cell Line | EDJ-KQ40563 | Human | 100125288 | Details Get a Quote |
| ZGLP1 Knockout HeLa Cell Line | EDJ-KQ40564 | Human | 100125288 | Details Get a Quote |
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