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Gene id 4790
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol NFKB1   Gene   UCSC   Ensembl
Aliases CVID12, EBP-1, KBF1, NF-kB, NF-kB1, NF-kappa-B1, NF-kappaB, NFKB-p105, NFKB-p50, NFkappaB, p105, p50
Gene name nuclear factor kappa B subunit 1
Alternate names nuclear factor NF-kappa-B p105 subunit, DNA-binding factor KBF1, NF-kappabeta, nuclear factor NF-kappa-B p50 subunit, nuclear factor kappa-B DNA binding subunit, nuclear factor of kappa light polypeptide gene enhancer in B-cells 1,
Gene location 4q24 (102501265: 102617301)     Exons: 27     NC_000004.12
Gene summary(Entrez) 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
OMIM 164011

SNPs
rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa04668TNF signaling pathway
hsa04066HIF-1 signaling pathway
hsa04071Sphingolipid signaling pathway
hsa04024cAMP signaling pathway
hsa04151PI3K-Akt signaling pathway
hsa04210Apoptosis
hsa04218Cellular senescence
hsa04620Toll-like receptor signaling pathway
hsa04621NOD-like receptor signaling pathway
hsa04622RIG-I-like receptor signaling pathway
hsa04623Cytosolic DNA-sensing pathway
hsa04625C-type lectin receptor signaling pathway
hsa04660T cell receptor signaling pathway
hsa04658Th1 and Th2 cell differentiation
hsa04659Th17 cell differentiation
hsa04657IL-17 signaling pathway
hsa04662B cell receptor signaling pathway
hsa04062Chemokine signaling pathway
hsa04920Adipocytokine signaling pathway
hsa04917Prolactin signaling pathway
hsa04926Relaxin signaling pathway
hsa04722Neurotrophin signaling pathway
hsa04380Osteoclast differentiation
hsa04211Longevity regulating pathway
hsa05200Pathways in cancer
hsa05202Transcriptional misregulation in cancer
hsa05206MicroRNAs in cancer
hsa05203Viral carcinogenesis
hsa05235PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05212Pancreatic cancer
hsa05221Acute myeloid leukemia
hsa05220Chronic myeloid leukemia
hsa05215Prostate cancer
hsa05222Small cell lung cancer
hsa05321Inflammatory bowel disease
hsa05030Cocaine addiction
hsa05418Fluid shear stress and atherosclerosis
hsa04932Non-alcoholic fatty liver disease
hsa04931Insulin resistance
hsa04933AGE-RAGE signaling pathway in diabetic complications
hsa05120Epithelial cell signaling in Helicobacter pylori infection
hsa05130Pathogenic Escherichia coli infection
hsa05132Salmonella infection
hsa05131Shigellosis
hsa05135Yersinia infection
hsa05133Pertussis
hsa05134Legionellosis
hsa05152Tuberculosis
hsa05166Human T-cell leukemia virus 1 infection
hsa05170Human immunodeficiency virus 1 infection
hsa05162Measles
hsa05164Influenza A
hsa05161Hepatitis B
hsa05160Hepatitis C
hsa05168Herpes simplex virus 1 infection
hsa05163Human cytomegalovirus infection
hsa05167Kaposi sarcoma-associated herpesvirus infection
hsa05169Epstein-Barr virus infection
hsa05165Human papillomavirus infection
hsa05146Amoebiasis
hsa05145Toxoplasmosis
hsa05140Leishmaniasis
hsa05142Chagas disease
hsa01523Antifolate resistance

Diseases

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Associated diseases References
Cancer GAD: 16387424
Cardiomyopathy GAD: 16465659
Sarcoidosis GAD: 12944982
Ulcerative colitis GAD: 14613970
Inflammatory bowel disease GAD: 17538633
Rheumatoid arthritis GAD: 16476711
Immunodeficiency OMIM: 164011
Ankylosing spondylitis GAD: 16206345
Crohn's disease GAD: 13680285
Arthritis GAD: 16142871
Celiac disease GAD: 16635909
Crohn's disease GAD: 16804398
Behcet's disease GAD: 18616724
Diabetes GAD: 11607785
Diabetes GAD: 16441485
Biliary cirrhosis GAD: 21399635
Parkinson disease GAD: 12203044
Alzheimer's disease GAD: 19141999
Schizophrenia GAD: 22479419
Hydrosalpinx INFBASE: 23061681
Female infertility INFBASE: 22196717
Implantation failure INFBASE: 19955102
HELLP syndrome INFBASE: 23905607
Polycystic ovary syndrome (PCOS) INFBASE: 26391700
Preeclampsia INFBASE: 23905607
Peritoneal endometriosis INFBASE: 17483545
Endometriosis INFBASE: 22902396
Endometrial polyp INFBASE: 25898371
Ectopic endometriosis INFBASE: 18710704
Silicosis GAD: 18666137
Chronic obstructive pulmonary disease (COPD) GAD: 19625176
Dermatitis GAD: 17117949
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Oligospermia MIK: 27041523
Male infertility MIK: 27041523
May play a role during the development of sperm cells MIK: 11066090

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
11066090 May play a
role duri
ng the dev
elopment o
f sperm ce
lls

Male infertility
Show abstract
27041523 Idiopathic
oligosper
mia, Male
infertilit
y
 rs28362491
244 (114 men wi
th idiopathic o
ligospermia, as
well as 130 no
rmospermic men)
 Male infertility
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract