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Nfkb1 Gene Detail
Summary
  • Symbol
    Nfkb1
  • Name
    nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105
  • Synonyms
    NF-kappaB, NF kappaB1, NF-kappaB p50, nuclear factor kappaB p50, p50, p50/p105, p50 subunit of NF kappaB
  • Feature Type
    protein coding gene
  • IDs
    MGI:97312
    NCBI Gene: 18033
  • Gene Overview
    MyGene.info: NFKB1
Location & Maps
more
  • Sequence Map
    Chr3:135584655-135691547 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      106893 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 62.82 cM
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    NFKB1, nuclear factor kappa B subunit 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NFKB1, nuclear factor kappa B subunit 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CVID12, EBP-1, KBF1, NFkappaB, NF-kappaB, NF-kappa-B, NF-kB1, NFKB-p105, NFKB-p50, p105, p50
  • Links
    NCBI Gene ID: 4790
    neXtProt AC: NX_P19838

  • Chr Location
    4q24; chr4:102501329-102617302 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with human NFKB1 associations

Human Disease Mouse Models
       Immunodeficiency, Common Variable, 12; CVID12   OMIM: 616576
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    93 phenotypes from 6 alleles in 13 genetic backgrounds
    55 phenotypes from multigenic genotypes
    216 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    83
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    74
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Nfkb1
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Homozygous null mice have a decreased survivor rate, abnormal T cell development and decreased number of peripheral T cells, abnormal humoral responses with decreased immunoglobulin class switching, exhibit mild organ inflammation, and are susceptible toboth bacterial infections and hearing loss.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    90
  • GO References
    41
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    234
  • Tissues
    196
  • cDNA Data
    116
  • Literature Summary
    19
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016668 VEGA Gene Model | MGI Sequence Detail 106893 C57BL/6J ±  kb
transcript OTTMUST00000040338 VEGA | MGI Sequence Detail 4117 Not Applicable  
polypeptide OTTMUSP00000018024 VEGA | MGI Sequence Detail 971 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    840 from dbSNP Build 142
  • RFLP
    1
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 120
    cDNA 117
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-12829
References
more
  • Summaries
    All 459
    Developmental Gene Expression 19
    Gene Ontology 41
    Phenotypes 216
  • Earliest
    J:13626 Ferguson JM, et al., Stumpy. Mouse News Lett. 1973;49:23
  • Latest
    J:234206 Sun F, et al., NF-kappaB1 p105 suppresses lung tumorigenesis through the Tpl2 kinase but independently of its NF-kappaB function. Oncogene. 2016 May 5;35(18):2299-310
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory