RAD21L1
RAD21 Cohesin Complex Component Like 1
Gene Information Card
| Symbol | RAD21L1 |
|---|---|
| Full Name | RAD21 Cohesin Complex Component Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.3 |
| NCBI Gene ID | 150372 ncbi.nlm.nih.gov/gene/150372 |
| Ensembl ID | ENSG00000125870 |
| UniProt ID | Q9H4I0 |
| OMIM ID | 615408 |
| HGNC ID | 26785 |
| Aliases | RAD21L, hRAD21L, RAD21-like 1 |
Description
RAD21L1 encodes a meiotic cohesin complex component that replaces RAD21 during prophase I of meiosis. It is essential for sister chromatid cohesion, synaptonemal complex assembly, and homologous recombination in spermatocytes. Loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia in males.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia (meiotic arrest) | Loss-of-function variants disrupt cohesin loading, leading to defective synapsis and recombination | ClinVar, OMIM |
| Primary ovarian insufficiency (POI) | Homozygous truncating mutations impair meiotic cohesion in oocytes | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Ovary | 2.1 | Low |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | N/A | High expression during prophase I |
| Sertoli cells | N/A | Not expressed |
| Granulosa cells | N/A | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1267C>T (p.Arg423*) | Nonsense | Rare | Truncated protein, loss of cohesin function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
| c.1873_1874del (p.Leu625fs) | Frameshift | Rare | Premature termination, loss of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations cause complete loss of RAD21L1 function, leading to meiotic arrest.
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)
| • sister chromatid cohesion | • meiotic chromosome segregation |
| • synaptonemal complex assembly | • homologous recombination |
| • chromatin binding |
Pathways
• Meiotic cohesin complex
• Spermatogenesis
• Homologous recombination repair
Protein Summary
RAD21L1 is a 631-amino acid protein that forms part of the meiotic cohesin complex. It contains an N-terminal domain for SMC1/3 interaction and a C-terminal domain for STAG3 binding. During prophase I, it localizes along chromosome axes and is essential for sister chromatid cohesion and crossover formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD21L1 Knockout HEK293 Cell Line | EDJ-KQ14985 | Human | 642636 | Details Get a Quote |
| RAD21L1 Knockout HeLa Cell Line | EDJ-KQ60530 | Human | 642636 | Details Get a Quote |
| RAD21L1 Knockout A-549 Cell Line | EDJ-KQ69000 | Human | 642636 | Details Get a Quote |
| RAD21L1 Knockout HCT 116 Cell Line | EDJ-KQ77358 | Human | 642636 | Details Get a Quote |
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