Nfkb1 MGI Mouse Gene Detail - MGI:97312 - nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105

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
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr3:135584655-135691547 bp, - strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 62.82 cM
Mapping Data

13 experiments

SNPs within 2kb

840 from 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	Chr3:135584655-135691982 (-)
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 (-)

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-B1, NF-kB, NF-kB1, NFKB-p105, NFKB-p50, p105, p50
Links

HGNC:7794

NCBI Gene ID: 4790

neXtProt AC: NX_P19838

UniProt: P19838
Chr Location

4q24; chr4:102501329-102617302 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 2971
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: NFKB1
Protein SuperFamily

transcription factor NF-kappa-B2
Gene Tree

Nfkb1

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References

1 with disease annotations

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Phenotype Summary

104 phenotypes from 11 alleles in 19 genetic backgrounds
55 phenotypes from multigenic genotypes
247 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

88
Chemically induced (ENU)

6
Chemically induced (other)

1
Gene trapped

74
Radiation induced

1
Targeted

6
Genomic Mutations

2 involving Nfkb1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

92 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.

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All GO Annotations

97
GO References

47

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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.

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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

241
Tissues

200
cDNA Data

117
Literature Summary

23

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nfkb1

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Nfkb1 interacts with 139 markers (Mir1a-1, Mir1a-2, Mir9-1, ...) View All

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All Sequences

70
RefSeq

6
UniProt

5
CCDS

CCDS17858.1
UniGene

256765

Ensembl

ENSMUSG00000028163 (Evidence)
NCBI Gene

18033

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028163	Ensembl Gene Model \| MGI Sequence Detail	106893	C57BL/6J	± kb
transcript	ENSMUST00000029812	Ensembl \| MGI Sequence Detail	4117	Not Applicable
polypeptide	ENSMUSP00000029812	Ensembl \| MGI Sequence Detail	971	Not Applicable

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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
InterPro Domains

IPR002110 Ankyrin repeat

IPR020683 Ankyrin repeat-containing domain

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

IPR033926 NFkappaB IPT domain

IPR030503 Nuclear factor NF-kappa-B, p105 subunit

IPR008967 p53-like transcription factor, DNA-binding

IPR032397 Rel homology dimerisation domain

IPR030492 Rel homology domain, conserved site

IPR011539 Rel homology domain (RHD), DNA-binding domain

IPR037059 Rel homology domain (RHD), DNA-binding domain superfamily

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All nucleic 122

cDNA 118

Primer pair 3

Other 1

Microarray probesets 3

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MGD-MRK-12829

Summaries

All 780

Developmental Gene Expression 23

Diseases 1

Gene Ontology 47

Phenotypes 247
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:277714 von Gamm M, et al., Immune homeostasis and regulation of the interferon pathway require myeloid-derived Regnase-3. J Exp Med. 2019 Jul 1;216(7):1700-1723

TSS for Nfkb1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr35834	Chr3:135691939-135691981 (-)	-413 bp
Tssr35833	Chr3:135691512-135691564 (-)	9 bp
Tssr35832	Chr3:135691488-135691511 (-)	47 bp
Tssr35831	Chr3:135691420-135691479 (-)	97 bp
Tssr35830	Chr3:135691411-135691417 (-)	133 bp
Tssr35829	Chr3:135691385-135691407 (-)	151 bp
Tssr35828	Chr3:135691325-135691370 (-)	199 bp
Tssr35827	Chr3:135691274-135691313 (-)	253 bp
Tssr35826	Chr3:135691265-135691271 (-)	279 bp
Tssr35825	Chr3:135691139-135691256 (-)	349 bp
Tssr35820	Chr3:135667814-135667821 (-)	23,729 bp
Tssr35799	Chr3:135608401-135608412 (-)	83,140 bp
Tssr35798	Chr3:135608361-135608379 (-)	83,177 bp
Tssr35797	Chr3:135608221-135608290 (-)	83,291 bp
Tssr35795	Chr3:135594406-135594425 (-)	97,131 bp
Tssr35794	Chr3:135594361-135594400 (-)	97,166 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 & Copyright Notice Send questions and comments to User Support.	last database update 10/08/2019 MGI 6.14