CSDE1 Gene (Cold Shock Domain Containing E1)
RNA-binding protein involved in translational control and neurodevelopment
Gene Information Card
| Symbol | CSDE1 |
|---|---|
| Full Name | Cold Shock Domain Containing E1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 7812 ncbi.nlm.nih.gov/gene/7812 |
| Ensembl ID | ENSG00000117640 |
| UniProt ID | O75534 |
| OMIM ID | 617409 |
| HGNC ID | 16998 |
| Aliases | UNR, D1S155E, MGC117188 |
Description
CSDE1 encodes a member of the cold-shock domain protein family that functions as an RNA-binding protein involved in post-transcriptional regulation, including translational control and mRNA stability. It plays critical roles in embryonic development, neurogenesis, and cellular stress responses. Mutations in CSDE1 are associated with neurodevelopmental disorders and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and speech delay | Loss-of-function mutations disrupt RNA-binding and translational regulation | PMID: 31564433 |
| Colorectal cancer | Overexpression promotes tumor cell proliferation and metastasis | PMID: 29262337 |
| Melanoma | CSDE1 regulates MITF expression and melanoma cell invasion | PMID: 25329316 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 9.5 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.7 | Medium expression |
| A549 | 11.2 | Medium expression |
| MCF7 | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Impaired RNA-binding; likely pathogenic |
| c.1021_1022insA (p.Thr341Asnfs*5) | Frameshift | Rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein are classified as loss-of-function.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as a gain-of-function mechanism.
Dominant Negative (DN)
Not reported for CSDE1.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • translation regulator activity (GO:0045182) | • cytoplasmic stress granule (GO:0010494) |
| • regulation of translation (GO:0006417) |
Pathways
• mTOR signaling pathway (Reactome: R-HSA-165159)
• Translation regulation by RNA-binding proteins (Reactome: R-HSA-8953854)
Protein Summary
CSDE1 (UniProt O75534) is a 791-amino acid protein containing five cold-shock domains that mediate RNA binding. It shuttles between nucleus and cytoplasm, localizes to stress granules under cellular stress, and regulates translation of specific mRNAs involved in development and cancer. The protein interacts with components of the mTOR pathway and influences cell proliferation and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSDE1 Knockout HEK293 Cell Line | EDJ-KQ3388 | Human | 7812 | Details Get a Quote |
| CSDE1 Knockout A-549 Cell Line | EDJ-KQ25079 | Human | 7812 | Details Get a Quote |
| CSDE1 Knockout HeLa Cell Line | EDJ-KQ25080 | Human | 7812 | Details Get a Quote |
| CSDE1 Knockout HCT 116 Cell Line | EDJ-KQ23690 | Human | 7812 | Details Get a Quote |
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