GRSF1 Gene: G-Rich RNA Sequence Binding Factor 1
A comprehensive biomedical overview of GRSF1, including gene structure, expression, function, and disease associations.
Gene Information Card
| Symbol | GRSF1 |
|---|---|
| Full Name | G-rich RNA sequence binding factor 1 |
| Gene Type | protein coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 2926 ncbi.nlm.nih.gov/gene/2926 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q12849 |
| OMIM ID | 604909 |
| HGNC ID | 4610 |
| Aliases | GRSF-1, GR-SF1 |
Description
GRSF1 encodes a protein that binds to G-rich RNA sequences, playing a role in RNA processing, particularly in mitochondria. It is involved in the regulation of mitochondrial gene expression and may influence cellular stress responses. The gene is located on chromosome 4q13.3 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| No specific disease association | Not established | No curated disease association found in OMIM or ClinVar as of the knowledge cutoff. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Heart | 12.3 | Medium |
| Liver | 8.5 | Low |
| Brain | 7.2 | Low |
| Kidney | 6.8 | Low |
| Testis | 15.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HepG2 | 10.2 | Liver cancer cell line |
| A549 | 8.7 | Lung carcinoma |
| HeLa | 9.5 | Cervical adenocarcinoma |
| K562 | 7.8 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| No curated variants | N/A | N/A | No clinically significant variants reported in ClinVar or COSMIC for GRSF1. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in GRSF1 associated with disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations in GRSF1.
Dominant Negative (DN)
No evidence of dominant-negative mutations in GRSF1.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • poly(U) RNA binding | • mitochondrion |
| • cytoplasm | • nucleus |
| • RNA processing | • regulation of translation |
Pathways
• Mitochondrial RNA processing
• RNA transport
Protein Summary
GRSF1 is a 480-amino acid protein containing three RNA recognition motifs (RRMs). It localizes to mitochondria and binds to G-rich sequences in mitochondrial RNA, facilitating RNA processing and translation. It may also participate in cytoplasmic RNA regulation. The protein is ubiquitously expressed with higher levels in heart and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRSF1 Knockout HEK293 Cell Line | EDJ-KQ4800 | Human | 2926 | Details Get a Quote |
| GRSF1 Knockout A-549 Cell Line | EDJ-KQ27567 | Human | 2926 | Details Get a Quote |
| GRSF1 Knockout HCT 116 Cell Line | EDJ-KQ27568 | Human | 2926 | Details Get a Quote |
| GRSF1 Knockout HeLa Cell Line | EDJ-KQ27569 | Human | 2926 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
