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 have DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Predicted to be involved in several processes, including innate immune response; intracellular signal transduction; and regulation of transcription by RNA polymerase II. Predicted to localize to I-kappaB/NF-kappaB complex; cytosol; and nucleoplasm. Human ortholog(s) of this gene implicated in breast cancer; common variable immunodeficiency; lung non-small cell carcinoma; melanoma; and prostate cancer. Orthologous to several human genes including BICDL1 (BICD family like cargo adaptor 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

9 figures from 8 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Thyme et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With nfkb1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
common variable immunodeficiency 12	Alliance	Immunodeficiency, common variable, 12	616576

Associated With nfkb1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

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