NEURL1B
Neuralized E3 Ubiquitin Protein Ligase 1B
Gene Information Card
| Symbol | NEURL1B |
|---|---|
| Full Name | neuralized E3 ubiquitin protein ligase 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.1 |
| NCBI Gene ID | 54492 ncbi.nlm.nih.gov/gene/54492 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q9Y6G9 |
| OMIM ID | 617055 |
| HGNC ID | 17610 |
| Aliases | NEURL2, NEURL1B, bA416N4.1 |
Description
NEURL1B encodes a RING-type E3 ubiquitin ligase that regulates Notch signaling by ubiquitinating and promoting the degradation of Notch ligands. It is involved in neurogenesis and cell fate determination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Lung | 4.1 | Low |
| Heart | 3.8 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.3 | Neuroblastoma cell line |
| HEK293 | 6.7 | Embryonic kidney |
| HeLa | 4.5 | Cervical carcinoma |
| K562 | 2.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.0004% (gnomAD) | Unknown functional effect |
| c.205G>A (p.Gly69Ser) | Missense | 0.0002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (Reactome: R-HSA-157118)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
NEURL1B is a 574-amino acid protein containing a RING finger domain and a neuralized homology repeat (NHR) domain. It acts as an E3 ubiquitin ligase, targeting Notch ligands for ubiquitination and degradation, thereby modulating Notch signaling during development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEURL1B Knockout HEK293 Cell Line | EDJ-KQ10761 | Human | 54492 | Details Get a Quote |
| NEURL1B Knockout A-549 Cell Line | EDJ-KQ39700 | Human | 54492 | Details Get a Quote |
| NEURL1B Knockout HCT 116 Cell Line | EDJ-KQ39701 | Human | 54492 | Details Get a Quote |
| NEURL1B Knockout HeLa Cell Line | EDJ-KQ39702 | Human | 54492 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
