ZAR1L
Zygote arrest 1 like
Gene Information Card
| Symbol | ZAR1L |
|---|---|
| Full Name | zygote arrest 1 like |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.12 |
| NCBI Gene ID | 100287225 ncbi.nlm.nih.gov/gene/100287225 |
| Ensembl ID | ENSG00000203727 |
| UniProt ID | Q5T7P2 |
| OMIM ID | 617654 |
| HGNC ID | 37237 |
| Aliases | ZAR1-like, ZAR1L1 |
Description
ZAR1L (zygote arrest 1 like) is a protein-coding gene located on chromosome 13q12.12. It is a paralog of ZAR1, a maternal effect gene involved in early embryonic development. ZAR1L is expressed in oocytes and early embryos, and its function is thought to be related to zygotic genome activation and cell cycle regulation. Limited functional data are available; further research is needed to clarify its role in human reproduction and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infertility (female) | Potential role in oocyte maturation and early embryonic arrest; loss-of-function variants may impair zygotic genome activation. | Limited; inferred from ZAR1 studies and expression data. |
| Primary ovarian insufficiency | Possible association due to expression in oocytes and role in early development. | Not established; no direct evidence in ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown; predicted benign |
| c.100C>T | nonsense | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations predicted to cause premature truncation; functional impact unknown.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function: protein binding (GO:0005515) | • biological_process: fertilization (GO:0009566) |
| • cellular_component: cytoplasm (GO:0005737) |
Protein Summary
The ZAR1L protein (UniProt Q5T7P2) is a 274-amino acid protein with a conserved ZAR1-like domain. It is predicted to localize to the cytoplasm and may interact with other proteins involved in early embryonic development. No crystal structure is available. Its exact biochemical function remains uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZAR1L Knockout HEK293 Cell Line | EDJ-KQ16175 | Human | 646799 | Details Get a Quote |
| ZAR1L Knockout HeLa Cell Line | EDJ-KQ60614 | Human | 646799 | Details Get a Quote |
| ZAR1L Knockout A-549 Cell Line | EDJ-KQ69083 | Human | 646799 | Details Get a Quote |
| ZAR1L Knockout HCT 116 Cell Line | EDJ-KQ77437 | Human | 646799 | Details Get a Quote |
