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Nfkb1Gene 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
Alliance
gene page
Transcription Start Sites
45 TSS

Location &
Maps

Sequence Map
Chr3:135290416-135397308 bp, - strand
From Ensembl annotation of GRCm39
View this region inJBrowse
Genome Browsers
Ensembl |UCSC |NCBI

Genetic Map
Chromosome 3, 62.82 cM
Mapping Data
13 experiments

Strain
Comparison

SNPs within 2kb
3288from dbSNP Build 142
Strain Annotations
18
RFLP
1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97312	protein coding gene	Chr3:135290416-135397422 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027909	protein coding gene	Chr3:138493487-138607219 (-)
A/J	MGP_AJ_G0027867	protein coding gene	Chr3:133622891-133731332 (-)
AKR/J	MGP_AKRJ_G0027832	protein coding gene	Chr3:137159469-137270960 (-)
BALB/cJ	MGP_BALBcJ_G0027880	protein coding gene	Chr3:133472853-133581623 (-)
C3H/HeJ	MGP_C3HHeJ_G0027609	protein coding gene	Chr3:137502859-137613325 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0028323	protein coding gene	Chr3:143323708-143441258 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025661	protein coding gene	Chr3:128844668-128953853 (-)
CAST/EiJ	MGP_CASTEiJ_G0027065	protein coding gene	Chr3:137205548-137339843 (-)
CBA/J	MGP_CBAJ_G0027585	protein coding gene	Chr3:148159215-148278617 (-)
DBA/2J	MGP_DBA2J_G0027725	protein coding gene	Chr3:132772808-132879913 (-)
FVB/NJ	MGP_FVBNJ_G0027692	protein coding gene	Chr3:130264921-130372794 (-)
LP/J	MGP_LPJ_G0027835	protein coding gene	Chr3:139918898-140031794 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027723	protein coding gene	Chr3:156283044-156394317 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028381	protein coding gene	Chr3:136691399-136805585 (-)
PWK/PhJ	MGP_PWKPhJ_G0026789	protein coding gene	Chr3:132492940-132601887 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026615	protein coding gene	Chr3:134783065-134900746 (-)
WSB/EiJ	MGP_WSBEiJ_G0027144	protein coding gene	Chr3:137488054-137600649 (-)

Homology

Human Ortholog
NFKB1, nuclear factor kappa B subunit 1

Vertebrate Orthologs
3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog
NFKB1,nuclear factor kappa B subunit 1
Synonyms
CVID12, EBP-1, KBF1, NF-kappaB, NFkappaB, NF-kappa-B1, NF-kappabeta, NF-kB, NF-kB1, NFKB-p105, NFKB-p50
Links
HGNC:7794
NCBI Gene ID:4790
UniProt:P19838
Chr Location
4q24; chr4:102501330-102617302(+) GRCh38

MGI Vertebrate Homology
Nfkb1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP
vertebrate homology predictions:NFKB1
Gene Tree
Nfkb1

Human Diseases

Diseases
7 with human NFKB1 associations

				Human Disease	Mouse Models
				breast cancer IDs breast cancer DOID:1612 DOID:1648 DOID:4241 ICD10CM:C50 ICD9CM:174.8 MESH:D001943 NCI:C9335 OMIM:114480 UMLS_CUI:C0006142
				common variable immunodeficiency 12 IDs common variable immunodeficiency 12 DOID:0081154 OMIM:616576
				hepatocellular carcinoma IDs hepatocellular carcinoma DOID:684 DOID:5005 EFO:0000182 ICD10CM:C22.0 MESH:D006528 NCI:C3099 OMIM:114550 ORDO:88673 UMLS_CUI:C2239176
				HTLV-1-associated myelopathy/tropical spastic paraparesis IDs HTLV-1-associated myelopathy/tropical spastic paraparesis DOID:321 ICD10CM:G04.1 MESH:D015493 NCI:C179058 OMIM:159580 UMLS_CUI:C0030481
				lung non-small cell carcinoma IDs lung non-small cell carcinoma DOID:3908 EFO:0003060 KEGG:05223 MESH:D002289 NCI:C2926 UMLS_CUI:C0007131
				melanoma IDs melanoma DOID:1909 EFO:0000756 KEGG:05218 MESH:D008545 NCI:C3224 UMLS_CUI:C0025202
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358

References
1 with disease annotations

Mutations,
Alleles, and
Phenotypes

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Phenotype Summary
101 phenotypesfrom 11 allelesin 18 genetic backgrounds
56 phenotypes from multigenic genotypes
295 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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
76
Chemically induced (ENU)
6
Chemically induced (other)
1
Endonuclease-mediated
5
Gene trapped
56
Radiation induced
1
Targeted
7
Genomic Mutations
2 involving Nfkb1
Incidental Mutations
Mutagenetix,APF,CvDC
Find Mice (IMSR)
102 strains or lines available
Comparison Matrix
Gene Expression + Phenotype

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
151
GO References
58

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

Expression

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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
970
Tissues
209
cDNA Data
117
Literature Summary
33

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links
Allen Institute
GEO
Expression Atlas
Other Vertebrate Links
Xenbasenfkb1

Sequences &
Gene Models

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All Sequences
70
RefSeq
6
UniProt
5
CCDS
CCDS17858.1

Ensembl
ENSMUSG00000028163 (Evidence)
NCBI Gene
18033

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028163	Ensembl Gene Model \|MGI Sequence Detail	106893	C57BL/6J	± kb
transcript	ENSMUST00000164430	Ensembl \|MGI Sequence Detail	3007	Not Applicable
polypeptide	ENSMUSP00000128345	Ensembl \|MGI Sequence Detail	971	Not Applicable

Protein
Information

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UniProt
5 Sequences
Protein Ontology
PR:000001754 nuclear factor NF-kappa-B p105 subunit
(term hierarchy)
PDB
1BFS,1IKN,1LE5,1LE9,1LEI,1NFK,1OOA,1U36,1U3J,1U3Y,1U3Z,1U41,1U42,1VKX,2I9T,2V2T,3JV4,8TKL,8TKM,8TKN,9BOR
InterPro Domains
IPR002110 Ankyrin repeat
IPR036770 Ankyrin repeat-containing domain superfamily
IPR000488 Death domain
IPR011029 Death-like domain superfamily
IPR014756 Immunoglobulin E-set
IPR013783 Immunoglobulin-like fold
IPR002909 IPT domain
IPR000451 NF-kappa-B/Dorsal
IPR051070 NF-kappa-B Inhibitor
IPR033926 NFkappaB IPT domain
IPR047096 Nuclear factor NF-kappa-B p105 subunit, death domain
IPR030503 Nuclear factor NF-kappa-B, p105 subunit, Rel homology domain, N-terminal
IPR008967 p53-like transcription factor, DNA-binding domain superfamily
IPR032397 Rel homology dimerisation domain
IPR030492 Rel homology domain, conserved site
IPR011539 Rel homology domain, DNA-binding domain
IPR037059 Rel homology domain (RHD), DNA-binding domain superfamily
GlyGen
P25799 3 sites, 1 O-linked glycan (3 sites)

Molecular
Reagents

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All nucleic124
cDNA118
Primer pair5
Other1

Microarray probesets3

Other
Accession IDs

less

MGD-MRK-12829

References

Summaries
All901
Developmental Gene Expression33
Diseases1
Gene Ontology58
Phenotypes295
Earliest
J:25020 Ghosh S, et al., Cloning of the p50 DNA binding subunit of NF-kappa B: homology to rel and dorsal. Cell. 1990 Sep 7;62(5):1019-29
Latest
J:360967 Ma H, et al., Gasdermin D Mediated Mitochondrial Metabolism Orchestrate Neurogenesis Through LDHA During Embryonic Development. Adv Sci (Weinh). 2024 Sep;11(35):e2402285

TSS for Nfkb1:

(View these features inJBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr35834	Chr3:135397700-135397742 (-)	-413 bp
Tssr35833	Chr3:135397273-135397325 (-)	9 bp
Tssr35832	Chr3:135397249-135397272 (-)	47 bp
Tssr35831	Chr3:135397181-135397240 (-)	97 bp
Tssr35830	Chr3:135397172-135397178 (-)	133 bp
Tssr35829	Chr3:135397146-135397168 (-)	151 bp
Tssr35828	Chr3:135397086-135397131 (-)	199 bp
Tssr35827	Chr3:135397035-135397074 (-)	253 bp
Tssr35826	Chr3:135397026-135397032 (-)	279 bp
Tssr35825	Chr3:135396900-135397017 (-)	349 bp
Tssr35824	Chr3:135395539-135395543 (-)	1,767 bp
Tssr35823	Chr3:135395016-135395029 (-)	2,285 bp
Tssr35822	Chr3:135393646-135393689 (-)	3,640 bp
Tssr35821	Chr3:135380353-135380395 (-)	16,934 bp
Tssr35820	Chr3:135373575-135373582 (-)	23,729 bp
Tssr35819	Chr3:135371306-135371316 (-)	25,997 bp
Tssr35818	Chr3:135371274-135371285 (-)	26,028 bp
Tssr35817	Chr3:135371246-135371260 (-)	26,055 bp
Tssr35816	Chr3:135371176-135371188 (-)	26,126 bp
Tssr35815	Chr3:135371159-135371168 (-)	26,144 bp
Tssr35814	Chr3:135371128-135371139 (-)	26,174 bp
Tssr35813	Chr3:135371104-135371115 (-)	26,198 bp
Tssr35812	Chr3:135371063-135371071 (-)	26,241 bp
Tssr35811	Chr3:135371044-135371057 (-)	26,257 bp
Tssr35810	Chr3:135370977-135371032 (-)	26,303 bp
Tssr35809	Chr3:135370952-135370959 (-)	26,352 bp
Tssr35808	Chr3:135370915-135370927 (-)	26,387 bp
Tssr35807	Chr3:135370874-135370886 (-)	26,428 bp
Tssr35806	Chr3:135370854-135370861 (-)	26,450 bp
Tssr35805	Chr3:135370843-135370851 (-)	26,461 bp
Tssr35804	Chr3:135369055-135369074 (-)	28,243 bp
Tssr35803	Chr3:135363123-135363140 (-)	34,176 bp
Tssr35801	Chr3:135356077-135356119 (-)	41,210 bp
Tssr35800	Chr3:135319438-135319442 (-)	77,868 bp
Tssr35799	Chr3:135314162-135314173 (-)	83,140 bp
Tssr35798	Chr3:135314122-135314140 (-)	83,177 bp
Tssr35797	Chr3:135313982-135314051 (-)	83,291 bp
Tssr35796	Chr3:135304760-135304779 (-)	92,538 bp
Tssr35795	Chr3:135300167-135300186 (-)	97,131 bp
Tssr35794	Chr3:135300122-135300161 (-)	97,166 bp
Tssr35793	Chr3:135296382-135296393 (-)	100,920 bp
Tssr35792	Chr3:135296338-135296366 (-)	100,956 bp
Tssr35791	Chr3:135295733-135295775 (-)	101,554 bp
Tssr35790	Chr3:135294075-135294083 (-)	103,229 bp
Tssr35789	Chr3:135293749-135293772 (-)	103,547 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/18/2025 MGI 6.24

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