OSR1 (Odd-Skipped Related Transcription Factor 1)
A key regulator of kidney development and Wilms tumor susceptibility
Gene Information Card
| Symbol | OSR1 |
|---|---|
| Full Name | odd-skipped related transcription factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p24.1 |
| NCBI Gene ID | 130497 ncbi.nlm.nih.gov/gene/130497 |
| Ensembl ID | ENSG00000143845 |
| UniProt ID | Q8TAX0 |
| OMIM ID | 608891 |
| HGNC ID | 18024 |
| Aliases | Osh, odd-skipped related 1, OSR1 |
Description
OSR1 encodes a zinc-finger transcription factor essential for intermediate mesoderm formation and kidney development. It acts as a repressor of the Wnt/β-catenin pathway and is frequently inactivated in Wilms tumor (nephroblastoma). OSR1 is also involved in heart and limb development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wilms tumor (nephroblastoma) | Loss of OSR1 expression leads to aberrant Wnt signaling and impaired nephrogenesis, contributing to tumorigenesis. | Somatic mutations and deletions in OSR1 are found in Wilms tumor (COSMIC, ClinVar). |
| Congenital anomalies of the kidney and urinary tract (CAKUT) | OSR1 haploinsufficiency disrupts ureteric bud branching and nephron formation. | Rare heterozygous variants in OSR1 are associated with CAKUT (OMIM). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Heart | 6.2 | Medium |
| Lung | 3.1 | Low |
| Testis | 2.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 (embryonic kidney) | 15.3 | High expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
| K562 (leukemia) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | <0.1% | Premature stop, loss of function |
| c.500_501del (p.Glu167fs) | Frameshift | <0.1% | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported OSR1 mutations are loss-of-function, including nonsense, frameshift, and splice-site variants, leading to reduced or absent protein activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for OSR1.
Dominant Negative (DN)
No dominant-negative mutations have been described for OSR1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • zinc ion binding |
| • regulation of transcription by RNA polymerase II | • kidney development |
| • mesoderm formation | • negative regulation of Wnt signaling pathway |
Pathways
• Wnt signaling pathway
• Kidney development
Protein Summary
OSR1 is a 266-amino acid protein containing three C2H2-type zinc fingers. It localizes to the nucleus and functions as a transcriptional repressor. OSR1 is critical for specifying the intermediate mesoderm and regulating nephron progenitor cell differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSR1 Knockout HEK293 Cell Line | EDJ-KQ9238 | Human | 130497 | Details Get a Quote |
| OSR1 Knockout A-549 Cell Line | EDJ-KQ35826 | Human | 130497 | Details Get a Quote |
| OSR1 Knockout HCT 116 Cell Line | EDJ-KQ35827 | Human | 130497 | Details Get a Quote |
| OSR1 Knockout HeLa Cell Line | EDJ-KQ58278 | Human | 130497 | Details Get a Quote |
