ZAR1: Zygote Arrest 1
Key regulator of early embryonic development and maternal-to-zygotic transition
Gene Information Card
| Symbol | ZAR1 |
|---|---|
| Full Name | zygote arrest 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p11 |
| NCBI Gene ID | 326340 ncbi.nlm.nih.gov/gene/326340 |
| Ensembl ID | ENSG00000138698 |
| UniProt ID | Q86SH2 |
| OMIM ID | 607520 |
| HGNC ID | 16741 |
| Aliases | ZAR, ZAR1L, FLJ20297 |
Description
ZAR1 (zygote arrest 1) is a maternal effect gene that encodes a protein essential for early embryonic development. It is specifically expressed in oocytes and early embryos, playing a critical role in the maternal-to-zygotic transition. ZAR1 is required for the progression beyond the one-cell stage after fertilization; its absence leads to zygotic arrest. The protein localizes to the nucleus and is involved in transcriptional regulation during early embryogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility (preimplantation embryonic lethality) | Loss-of-function mutations in ZAR1 cause failure of embryonic development beyond the one-cell stage, leading to recurrent implantation failure or early pregnancy loss. | OMIM #607520; ClinVar; case reports in human infertility studies |
| Oocyte maturation defect | ZAR1 deficiency disrupts oocyte cytoplasmic maturation and zygotic genome activation. | Animal models (mouse knockout); human association studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 0.0 | Not detected (nTPM < 1) |
| Testis | 0.0 | Not detected |
| Fallopian tube | 0.0 | Not detected |
| Uterus | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oocyte | N/A | High expression (maternal transcript) |
| Zygote | N/A | High expression, rapidly degraded after zygotic genome activation |
| Embryonic stem cells | N/A | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of protein function; associated with female infertility |
| c.202C>T (p.Arg68*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.365_366del (p.Glu122Valfs*5) | Frameshift deletion | Rare | Frameshift; loss of function |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic ZAR1 mutations are loss-of-function, leading to truncated or absent protein, resulting in zygotic arrest and infertility.
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)
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • regulation of transcription (GO:0006355) | • multicellular organism development (GO:0007275) |
| • embryo development (GO:0009790) | • spermatogenesis (GO:0007283) |
| • embryonic development via the maternal effect (GO:0001700) |
Pathways
• Maternal-to-zygotic transition
• Oocyte maturation
• Early embryonic development
Protein Summary
The ZAR1 protein is a 360-amino-acid nuclear protein containing a putative DNA-binding domain. It is specifically expressed in oocytes and early embryos, where it regulates transcription required for the maternal-to-zygotic transition. ZAR1 is essential for embryonic development beyond the one-cell stage; its absence causes zygotic arrest. The protein is rapidly degraded after zygotic genome activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZAR1 Knockout HEK293 Cell Line | EDJ-KQ9413 | Human | 326340 | Details Get a Quote |
| ZAR1L Knockout HEK293 Cell Line | EDJ-KQ16175 | Human | 646799 | Details Get a Quote |
| ZAR1 Knockout HeLa Cell Line | EDJ-KQ59576 | Human | 326340 | Details Get a Quote |
| ZAR1L Knockout HeLa Cell Line | EDJ-KQ60614 | Human | 646799 | Details Get a Quote |
| ZAR1 Knockout A-549 Cell Line | EDJ-KQ68041 | Human | 326340 | Details Get a Quote |
| ZAR1L Knockout A-549 Cell Line | EDJ-KQ69083 | Human | 646799 | Details Get a Quote |
| ZAR1 Knockout HCT 116 Cell Line | EDJ-KQ76421 | Human | 326340 | Details Get a Quote |
| ZAR1L Knockout HCT 116 Cell Line | EDJ-KQ77437 | Human | 646799 | Details Get a Quote |
