Gene
nfkb1
- ID
- ZDB-GENE-121204-3
- Name
- nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
- Symbol
- nfkb1 Nomenclature History
- Previous Names
-
- p50 (1)
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity and DNA-binding transcription factor activity. Predicted to act upstream of or within regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm and nucleus. Is expressed in retina. Human ortholog(s) of this gene implicated in several diseases, including carcinoma (multiple); common variable immunodeficiency 12; melanoma; prostate cancer; and tropical spastic paraparesis. Orthologous to human NFKB1 (nuclear factor kappa B subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| common variable immunodeficiency 12 | Alliance | Immunodeficiency, common variable, 12 | 616576 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR030492 | Rel homology domain, conserved site |
| Domain | IPR002909 | IPT domain |
| Domain | IPR011539 | Rel homology domain, DNA-binding domain |
| Domain | IPR032397 | Rel homology dimerisation domain |
| Domain | IPR033926 | NFkappaB IPT domain |
| Family | IPR000451 | NF-kappa-B/Dorsal |
| Homologous_superfamily | IPR008967 | p53-like transcription factor, DNA-binding domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
| Homologous_superfamily | IPR037059 | Rel homology domain (RHD), DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Immunoglobulin E-set | Immunoglobulin-like fold | IPT domain | NF-kappa-B/Dorsal | NFkappaB IPT domain | p53-like transcription factor, DNA-binding domain superfamily | Rel homology dimerisation domain | Rel homology domain, conserved site | Rel homology domain, DNA-binding domain | Rel homology domain (RHD), DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QGX8
|
539 | ||||||||||
|
UniProtKB:A0A8M9QPM1
|
534 | ||||||||||
|
UniProtKB:A0A0R4IN79
|
540 |
Interactions and Pathways
Plasmids
No data available