RELL1: RELT-Like 1 Gene
A member of the TNF receptor superfamily modulator family involved in immune signaling and cancer
Gene Information Card
| Symbol | RELL1 |
|---|---|
| Full Name | RELT-like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | 285761 ncbi.nlm.nih.gov/gene/285761 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q8N7J2 |
| OMIM ID | 611709 |
| HGNC ID | 30426 |
| Aliases | RELT-like 1, FLJ32786, MGC35130 |
Description
RELL1 (RELT-like 1) is a protein-coding gene that encodes a member of the tumor necrosis factor receptor (TNFR) superfamily modulator family. The protein is structurally similar to RELT and is involved in immune signaling pathways, particularly through interaction with TNFRSF19L and activation of NF-κB. RELL1 is expressed in various tissues and has been implicated in cancer and inflammatory processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of RELL1 expression may alter NF-κB signaling, contributing to tumorigenesis. | COSMIC, NCBI |
| Inflammatory diseases | Potential role in immune modulation via TNFR pathways. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Lung | 6.3 | Low |
| Testis | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in recombinant systems |
| K562 | 8.5 | Moderate expression |
| HeLa | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | <0.1% | Unknown functional impact |
| c.523C>T (p.Arg175Trp) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RELL1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RELL1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in RELL1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • signal transduction (GO:0007165) |
| • positive regulation of NF-κB transcription factor activity (GO:0043123) | • plasma membrane (GO:0005886) |
Pathways
• TNF receptor signaling pathway (Reactome: R-HSA-5663202)
• NF-κB signaling pathway (KEGG: hsa04064)
Protein Summary
RELL1 is a 248-amino acid protein with a single transmembrane domain, belonging to the RELT family. It localizes to the plasma membrane and interacts with TNFRSF19L to modulate NF-κB activation. The protein is involved in immune cell signaling and may play a role in cancer progression through dysregulation of inflammatory pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RELL1 Knockout HEK293 Cell Line | EDJ-KQ15031 | Human | 768211 | Details Get a Quote |
| RELL1 Knockout A-549 Cell Line | EDJ-KQ45566 | Human | 768211 | Details Get a Quote |
| RELL1 Knockout HCT 116 Cell Line | EDJ-KQ45567 | Human | 768211 | Details Get a Quote |
| RELL1 Knockout HeLa Cell Line | EDJ-KQ45568 | Human | 768211 | Details Get a Quote |
