Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NFKB1 Gene

Aliases for NFKB1 Gene

  • Nuclear Factor Kappa B Subunit 1 2 3 5
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells 1 2 3 4
  • DNA-Binding Factor KBF1 3 4
  • EBP-1 3 4
  • Nuclear Factor Kappa-B DNA Binding Subunit 3
  • Nuclear Factor NF-Kappa-B P105 Subunit 3
  • Nuclear Factor NF-Kappa-B P50 Subunit 3
  • NF-Kappabeta 3
  • NF-Kappa-B 3
  • NF-KappaB 3
  • NFKB-P105 3
  • NFKB-P50 3
  • NFkappaB 3
  • CVID12 3
  • NF-KB1 3
  • P105 3
  • KBF1 3
  • P50 3

External Ids for NFKB1 Gene

Previous GeneCards Identifiers for NFKB1 Gene

  • GC04P103821
  • GC04P103880
  • GC04P103779
  • GC04P103641
  • GC04P103422
  • GC04P099158

Summaries for NFKB1 Gene

Entrez Gene Summary for NFKB1 Gene

  • This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]

GeneCards Summary for NFKB1 Gene

NFKB1 (Nuclear Factor Kappa B Subunit 1) is a Protein Coding gene. Diseases associated with NFKB1 include Immunodeficiency, Common Variable, 12 and Common Variable Immunodeficiency. Among its related pathways are RANK Signaling in Osteoclasts and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NFKB2.

UniProtKB/Swiss-Prot for NFKB1 Gene

  • NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and RelB-p50 complexes are transcriptional activators. The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. The proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of NFKB1/p105 also appears to occur post-translationally. p50 binds to the kappa-B consensus sequence 5-GGRNNYYCC-3, located in the enhancer region of genes involved in immune response and acute phase reactions. In a complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPK signaling; active MAP3K8 is released by proteasome-dependent degradation of NFKB1/p105.

Tocris Summary for NFKB1 Gene

  • NF-kappaB (nuclear factor-kappa B) is a rapidly acting primary transcription factor found in all cell types. It is involved in the cellular responses to stimuli such as cytokines and stress and plays a key role in regulating the immunological response to infections.

Gene Wiki entry for NFKB1 Gene

Additional gene information for NFKB1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFKB1 Gene

Genomics for NFKB1 Gene

GeneHancer (GH) Regulatory Elements for NFKB1 Gene

Promoters and enhancers for NFKB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I102499 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 564.4 +1.2 1237 5.2 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B NFKB1 ENSG00000260651 LOC105377621 MANBA LOC100419096 UBE2D3 BDH2 ENSG00000248161 LOC105377347
GH04I102823 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 66.5 +325.3 325346 7.1 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 UBE2D3 LOC105377348 NFKB1 LOC100419096 MANBA CISD2 SLC9B1 BDH2 LRRC37A15P LOC102723704
GH04I103197 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 26.8 +696.8 696775 2.2 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 E2F8 ZNF207 ZNF143 CENPE BDH2 NFKB1 UBE2D3 LOC100419096 MANBA KRT8P46
GH04I102759 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 22.3 +259.3 259260 2.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF143 MANBA NFKB1 LOC100419096
GH04I102564 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 30.5 +63.1 63072 0.8 PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ZNF207 ATF7 ETV6 BCLAF1 NFKB1 SLC39A8 ENSG00000260651 UBE2D3 MANBA SLC9B1 LOC105377347 LOC105377621
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NFKB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NFKB1 gene promoter:

Genomic Locations for NFKB1 Gene

Genomic Locations for NFKB1 Gene
chr4:102,501,329-102,617,302
(GRCh38/hg38)
Size:
115,974 bases
Orientation:
Plus strand
chr4:103,422,486-103,538,459
(GRCh37/hg19)

Genomic View for NFKB1 Gene

Genes around NFKB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFKB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFKB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFKB1 Gene

Proteins for NFKB1 Gene

  • Protein details for NFKB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19838-NFKB1_HUMAN
    Recommended name:
    Nuclear factor NF-kappa-B p105 subunit
    Protein Accession:
    P19838
    Secondary Accessions:
    • A8K5Y5
    • B3KVE8
    • Q68D84
    • Q86V43
    • Q8N4X7
    • Q9NZC0

    Protein attributes for NFKB1 Gene

    Size:
    968 amino acids
    Molecular mass:
    105356 Da
    Quaternary structure:
    • Component of the NF-kappa-B p65-p50 complex. Component of the NF-kappa-B p65-p50 complex. Homodimer; component of the NF-kappa-B p50-p50 complex. Component of the NF-kappa-B p105-p50 complex. Component of the NF-kappa-B p50-c-Rel complex. Component of a complex consisting of the NF-kappa-B p50-p50 homodimer and BCL3. Also interacts with MAP3K8. NF-kappa-B p50 subunit interacts with NCOA3 coactivator, which may coactivate NF-kappa-B dependent expression via its histone acetyltransferase activity. Interacts with DSIPI; this interaction prevents nuclear translocation and DNA-binding. Interacts with SPAG9 and UNC5CL. NFKB1/p105 interacts with CFLAR; the interaction inhibits p105 processing into p50. NFKB1/p105 forms a ternary complex with MAP3K8 and TNIP2. Interacts with GSK3B; the interaction prevents processing of p105 to p50. NFKB1/p50 interacts with NFKBIE. NFKB1/p50 interacts with NFKBIZ. Nuclear factor NF-kappa-B p50 subunit interacts with NFKBID (By similarity). Directly interacts with MEN1. Interacts with HIF1AN.

    Three dimensional structures from OCA and Proteopedia for NFKB1 Gene

    Alternative splice isoforms for NFKB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFKB1 Gene

Post-translational modifications for NFKB1 Gene

  • Phosphorylation at Ser-903 and Ser-907 primes p105 for proteolytic processing in response to TNF-alpha stimulation. Phosphorylation at Ser-927 and Ser-932 are required for BTRC/BTRCP-mediated proteolysis.
  • Polyubiquitination seems to allow p105 processing.
  • S-nitrosylation of Cys-61 affects DNA binding.
  • The covalent modification of cysteine by 15-deoxy-Delta12,14-prostaglandin-J2 is autocatalytic and reversible. It may occur as an alternative to other cysteine modifications, such as S-nitrosylation and S-palmitoylation.
  • While translation occurs, the particular unfolded structure after the GRR repeat promotes the generation of p50 making it an acceptable substrate for the proteasome. This process is known as cotranslational processing. The processed form is active and the unprocessed form acts as an inhibitor (I kappa B-like), being able to form cytosolic complexes with NF-kappa B, trapping it in the cytoplasm. Complete folding of the region downstream of the GRR repeat precludes processing.
  • Ubiquitination at Lys856

Antibody Products

No data available for DME Specific Peptides for NFKB1 Gene

Domains & Families for NFKB1 Gene

Gene Families for NFKB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for NFKB1 Gene

Graphical View of Domain Structure for InterPro Entry

P19838

UniProtKB/Swiss-Prot:

NFKB1_HUMAN :
  • The C-terminus of p105 might be involved in cytoplasmic retention, inhibition of DNA-binding, and transcription activation.
Domain:
  • The C-terminus of p105 might be involved in cytoplasmic retention, inhibition of DNA-binding, and transcription activation.
  • Glycine-rich region (GRR) appears to be a critical element in the generation of p50.
genes like me logo Genes that share domains with NFKB1: view

Function for NFKB1 Gene

Molecular function for NFKB1 Gene

GENATLAS Biochemistry:
nuclear transcription factor of kappa light chain gene enhancer in B cells,1,(encoding the p105 precursor and the amino-terminal active p50 subunit),NF-kappa B/REL family
UniProtKB/Swiss-Prot Function:
NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and RelB-p50 complexes are transcriptional activators. The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. The proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of NFKB1/p105 also appears to occur post-translationally. p50 binds to the kappa-B consensus sequence 5-GGRNNYYCC-3, located in the enhancer region of genes involved in immune response and acute phase reactions. In a complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPK signaling; active MAP3K8 is released by proteasome-dependent degradation of NFKB1/p105.
UniProtKB/Swiss-Prot Induction:
By phorbol ester and TNF.

Phenotypes From GWAS Catalog for NFKB1 Gene

Gene Ontology (GO) - Molecular Function for NFKB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 18718911
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 7959007
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 1406630
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IDA 1406630
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 24434510
genes like me logo Genes that share ontologies with NFKB1: view
genes like me logo Genes that share phenotypes with NFKB1: view

Human Phenotype Ontology for NFKB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NFKB1 Gene

MGI Knock Outs for NFKB1:

Animal Model Products

Transcription Factor Targets for NFKB1 Gene

Selected GeneGlobe predicted Target genes for NFKB1
Targeted motifs for NFKB1 Gene
HOMER Transcription Factor Regulatory Elements motif NFKB1
  • Consensus sequence: GGGGGAATCCCC Submotif: canonical Cell Type: Monocyte

Clone Products

  • Addgene plasmids for NFKB1

No data available for Enzyme Numbers (IUBMB) for NFKB1 Gene

Localization for NFKB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFKB1 Gene

Nucleus. Cytoplasm. Note=Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFKB1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFKB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA,IDA 11819787
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 11819787
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with NFKB1: view

Pathways & Interactions for NFKB1 Gene

SuperPathways for NFKB1 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 TNFR1 Pathway
3 4-1BB Pathway
4 Cytosolic sensors of pathogen-associated DNA
5 RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
genes like me logo Genes that share pathways with NFKB1: view

Pathways by source for NFKB1 Gene

SIGNOR curated interactions for NFKB1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NFKB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 19881551
GO:0001818 negative regulation of cytokine production IEA --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with NFKB1: view

Drugs & Compounds for NFKB1 Gene

(49) Drugs for NFKB1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thalidomide Approved, Investigational, Withdrawn Pharma Target, antagonist, inhibitor Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents 1195
Pranlukast Approved, Investigational Pharma Antagonist, Target, other/unknown 3
Aspirin Approved, Vet_approved Pharma Channel blocker, Target, antagonist 1232
Triflusal Approved, Investigational Pharma Target, antagonist 6
Sulfasalazine Approved Pharma Inhibition, Inhibitor NF-κB activation inhibitor 63

(2) Additional Compounds for NFKB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cis,trans-5'-Hydroxythalidomide

(3) Tocris Compounds for NFKB1 Gene

Compound Action Cas Number
Pyrrolidinedithiocarbamate ammonium Inhibits NF-kappaB, prevents increase in NOS mRNA 5108-96-3
SP 100030 NF-kappaB and AP-1 dual inhibitor 154563-54-9
Tanshinone IIA Inhibits NF-kappaB and AP-1 DNA binding. Displays antioxidant properties 568-72-9

(32) ApexBio Compounds for NFKB1 Gene

Compound Action Cas Number
2-(4-((2-(4-(Trifluoromethyl)phenyl)-5-methylthiazol-4-yl)methylthio)-2- methylphenoxy)acetic acid 317318-70-0
Andrographolide NF-κB signaling Inhibitor 5508-58-7
Bardoxolone Once-a-day treatment for CKD 218600-44-3
Bay 11-7085 NK-κB activation inhibitor 196309-76-9
Bay 11-7821(BAY 11-7082) IKK/NF-κB/TNFα inhibitor 19542-67-7
Caffeic acid 331-39-5
Caffeic Acid Phenethyl Ester NF-κB activation inhibitor 104594-70-9
Cardamonin NF-κB inhibitor 19309-14-9
Dimethylfraxetin 6035-49-0
Emodin Naturally occurring anthraquinone,antiproliferative 518-82-1
Honokiol Antioxidant/antitumor/antiangiogenic agent 35354-74-6
IKK-16 (IKK Inhibitor VII) Selective IκB kinase inhibitor 873225-46-8
IMD 0354 978-62-1
JSH-23 NF-κB inhibitor 749886-87-1
Kaempferol Apoptosis inducer;antioxidant;flavonoid 520-18-3
Luteolin Antioxidant and free radical scavenger 491-70-3
Matrine Alkaloid found in Sophora plant 519-02-8
PR 39 (porcine) 139637-11-9
Pyrrolidinedithiocarbamate ammonium 5108-96-3
QNZ (EVP4593) Potent NF-κB inhibitor 545380-34-5
Ro 106-9920 62645-28-7
SC75741 913822-46-5
Sodium 4-Aminosalicylate 6018-19-5
Sodium 4-amiropparaty Hyalrate 94-16-6
Sodium salicylate 54-21-7
Sulfasalazine NF-κB activation inhibitor 599-79-1
Tanshinone IIA Antioxidant and anti-inflammatory reagent 568-72-9
TPCA-1 IKK-2 inhibitor,potent and selective 507475-17-4
Triptolide IL-2/MMP-3/MMP7/MMP19 inhibitor 38748-32-2
Verbascoside PKC/NF-κB inhibitor 61276-17-3
Withaferin A 5119-48-2
WS6 1421227-53-3
genes like me logo Genes that share compounds with NFKB1: view

Drug Products

Transcripts for NFKB1 Gene

Unigene Clusters for NFKB1 Gene

Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for NFKB1

Alternative Splicing Database (ASD) splice patterns (SP) for NFKB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - -
SP2: - - -
SP3: -
SP4:
SP5:

ExUns: 22 ^ 23 ^ 24a · 24b · 24c
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for NFKB1 Gene

GeneLoc Exon Structure for
NFKB1
ECgene alternative splicing isoforms for
NFKB1

Expression for NFKB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NFKB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NFKB1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.0) and Lymph node (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NFKB1 Gene



Protein tissue co-expression partners for NFKB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NFKB1 Gene:

NFKB1

SOURCE GeneReport for Unigene cluster for NFKB1 Gene:

Hs.618430

Evidence on tissue expression from TISSUES for NFKB1 Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Muscle(4.4)
  • Eye(3.3)
  • Lymph node(2.9)
  • Blood(2.8)
  • Lung(2.8)
  • Spleen(2.8)
  • Intestine(2.5)
  • Heart(2.4)
  • Bone marrow(2.3)
  • Kidney(2.3)
  • Pancreas(2.3)
  • Skin(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NFKB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • meninges
  • middle ear
  • neck
  • pituitary gland
  • sinus
  • skull
  • thyroid
Thorax:
  • bronchus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • rectum
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with NFKB1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NFKB1 Gene

Orthologs for NFKB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFKB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFKB1 33 34
  • 99.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NFKB1 33 34
  • 89.87 (n)
cow
(Bos Taurus)
Mammalia NFKB1 33 34
  • 88.96 (n)
mouse
(Mus musculus)
Mammalia Nfkb1 33 16 34
  • 84.46 (n)
rat
(Rattus norvegicus)
Mammalia Nfkb1 33
  • 84.38 (n)
oppossum
(Monodelphis domestica)
Mammalia NFKB1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFKB1 33 34
  • 71.87 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia nfkb1 33
  • 66.74 (n)
Str.11435 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10943 33
fruit fly
(Drosophila melanogaster)
Insecta dl 35
  • 41 (a)
Rel 35 34
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1675 34
  • 32 (a)
OneToMany
Species where no ortholog for NFKB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NFKB1 Gene

ENSEMBL:
Gene Tree for NFKB1 (if available)
TreeFam:
Gene Tree for NFKB1 (if available)

Paralogs for NFKB1 Gene

Paralogs for NFKB1 Gene

(3) SIMAP similar genes for NFKB1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NFKB1: view

Variants for NFKB1 Gene

Sequence variations from dbSNP and Humsavar for NFKB1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs869320688 pathogenic, Immunodeficiency, common variable, 12 102,579,043(+) A/G intron_variant
rs869320689 pathogenic, Immunodeficiency, common variable, 12 102,580,641(+) T/G splice_donor_variant
rs869320754 pathogenic, Immunodeficiency, common variable, 12 102,576,932(+) AA/AAA coding_sequence_variant, frameshift
rs4648072 likely-benign, not provided 102,597,543(+) A/G coding_sequence_variant, missense_variant
rs1057518392 uncertain-significance, not specified 102,580,598(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NFKB1 Gene

Variant ID Type Subtype PubMed ID
esv2728077 CNV deletion 23290073
esv27559 CNV loss 19812545
nsv1003618 CNV gain 25217958
nsv4442 CNV insertion 18451855
nsv830020 CNV loss 17160897
nsv956425 CNV deletion 24416366

Variation tolerance for NFKB1 Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFKB1 Gene

Human Gene Mutation Database (HGMD)
NFKB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFKB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFKB1 Gene

Disorders for NFKB1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for NFKB1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 12
  • cvid12
common variable immunodeficiency
  • acquired agammaglobulinemia
asherman's syndrome
  • adhesions of uterus
intestinal perforation
  • perforation of intestine
human t-cell leukemia virus type 2
  • htlv-2
- elite association - COSMIC cancer census association via MalaCards
Search NFKB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NFKB1_HUMAN
  • Immunodeficiency, common variable, 12 (CVID12) [MIM:616576]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. {ECO:0000269 PubMed:26279205}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NFKB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NFKB1: view

No data available for