GenTIGS

Nuclear factor kappa B subunit 1 (NFKB1) Associated conditions: 1. Common variable immunodeficiency 2. Primary ciliary dyskinesia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001165412.2	NP_001158884.1	NC_000004.12	(102501358..102617301)	Reference GRCh38.p14 Primary Assembly	P19838
2	REVIEWED	NM_001319226.2	NP_001306155.1	NC_000004.12	(102501358..102617301)	Reference GRCh38.p14 Primary Assembly	P19838
3	REVIEWED	NM_001382625.1	NP_001369554.1	NC_000004.12	(102501358..102617301)	Reference GRCh38.p14 Primary Assembly	P19838
4	REVIEWED	NM_001382626.1	NP_001369555.1	NC_000004.12	(102501358..102617301)	Reference GRCh38.p14 Primary Assembly	P19838
5	REVIEWED	NM_001382627.1	NP_001369556.1	NC_000004.12	(102501358..102617301)	Reference GRCh38.p14 Primary Assembly	P19838
6	REVIEWED	NM_001382628.1	NP_001369557.1	NC_000004.12	(102501358..102617301)	Reference GRCh38.p14 Primary Assembly	P19838
7	REVIEWED	NM_003998.4	NP_003989.2	NC_000004.12	(102501358..102617301)	Reference GRCh38.p14 Primary Assembly	P19838

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1 Link 2 Link 3 Link 43392 reference articles

Variant Information Nuclear factor kappa B subunit 1 (NFKB1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Nuclear factor kappa B subunit 1 (NFKB1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Nuclear factor kappa B subunit 1 (NFKB1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IGI	acts_upstream_of_or_within	negative regulation of transcription by RNA polymerase II	Process	24434150
2	Homo sapiens	IMP	involved_in	negative regulation of transcription by RNA polymerase II	Process	19881551
3	Homo sapiens	NAS	involved_in	negative regulation of transcription by RNA polymerase II	Process	30205516
4	Homo sapiens	IEA	involved_in	MAPK cascade	Process	-
5	Homo sapiens	IC	is_active_in	chromatin	Component	34721373
6	Homo sapiens	IDA	is_active_in	chromatin	Component	8413223
7	Homo sapiens	ISA	located_in	chromatin	Component	-
8	Homo sapiens	IDA	enables	transcription cis-regulatory region binding	Function	16938301 17426251 18718911
9	Homo sapiens	IDA	enables	RNA polymerase II transcription regulatory region sequence-specific DNA binding	Function	7959007
10	Homo sapiens	IBA	enables	RNA polymerase II cis-regulatory region sequence-specific DNA binding	Function	-
11	Homo sapiens	IDA	enables	RNA polymerase II cis-regulatory region sequence-specific DNA binding	Function	1406630 23811396
12	Homo sapiens	IEA	enables	RNA polymerase II cis-regulatory region sequence-specific DNA binding	Function	-
13	Homo sapiens	IMP	enables	RNA polymerase II cis-regulatory region sequence-specific DNA binding	Function	26801246
14	Homo sapiens	IBA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
15	Homo sapiens	IDA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	17426251
16	Homo sapiens	IMP	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	26801246
17	Homo sapiens	ISA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
18	Homo sapiens	IEA	enables	cis-regulatory region sequence-specific DNA binding	Function	-
19	Homo sapiens	IPI	enables	transcription coactivator binding	Function	23811396
20	Homo sapiens	IDA	enables	DNA-binding transcription repressor activity, RNA polymerase II-specific	Function	24434510
21	Homo sapiens	IDA	enables	DNA-binding transcription activator activity, RNA polymerase II-specific	Function	1406630 23811396 34721373
22	Homo sapiens	IEA	contributes_to	DNA-binding transcription activator activity, RNA polymerase II-specific	Function	-
23	Homo sapiens	IMP	enables	DNA-binding transcription activator activity, RNA polymerase II-specific	Function	16938301
24	Homo sapiens	IEA	involved_in	negative regulation of cytokine production	Process	-
25	Homo sapiens	IEA	enables	DNA binding	Function	-
26	Homo sapiens	IEA	enables	chromatin binding	Function	-
27	Homo sapiens	IDA	enables	DNA-binding transcription factor activity	Function	8413223 17426251
28	Homo sapiens	IEA	enables	DNA-binding transcription factor activity	Function	-
29	Homo sapiens	IEA	enables	transcription coregulator activity	Function	-
30	Homo sapiens	IPI	enables	protein binding	Function	7651415 8196632 8246997 8441377 9865693 10023675 10498867 11297557 11526476 11931769 12482991 12832462 14624448 14743216 15169888 15799966 16108830 16306601 16319921 17003112 18045535 18212740 19350539 19358846 20195357 20237821 20547752 21270162 21483817 21988832 22808155 23636254 24634218 25241761 25609649 25852190 26496610 32814053 33961781 35140242 35271311 40205054
31	Homo sapiens	TAS	located_in	extracellular region	Component	-
32	Homo sapiens	IBA	is_active_in	nucleus	Component	-
33	Homo sapiens	IDA	located_in	nucleus	Component	11819787 16938301 25411248
34	Homo sapiens	IEA	located_in	nucleus	Component	-
35	Homo sapiens	IGI	located_in	nucleus	Component	23729669
36	Homo sapiens	TAS	located_in	nucleus	Component	1992489
37	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
38	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
39	Homo sapiens	IDA	located_in	cytoplasm	Component	11819787
40	Homo sapiens	IEA	located_in	cytoplasm	Component	-
41	Homo sapiens	IGI	located_in	cytoplasm	Component	23729669
42	Homo sapiens	ISS	is_active_in	cytoplasm	Component	-
43	Homo sapiens	IDA	located_in	cytosol	Component	-
44	Homo sapiens	IEA	located_in	cytosol	Component	-
45	Homo sapiens	TAS	located_in	cytosol	Component	-
46	Homo sapiens	IEA	involved_in	regulation of DNA-templated transcription	Process	-
47	Homo sapiens	IDA	involved_in	regulation of transcription by RNA polymerase II	Process	34721373
48	Homo sapiens	TAS	involved_in	transcription by RNA polymerase II	Process	1992489
49	Homo sapiens	IEA	involved_in	apoptotic process	Process	-
50	Homo sapiens	TAS	involved_in	inflammatory response	Process	1992489
51	Homo sapiens	IEA	involved_in	signal transduction	Process	-
52	Homo sapiens	IBA	involved_in	canonical NF-kappaB signal transduction	Process	-
53	Homo sapiens	IDA	involved_in	canonical NF-kappaB signal transduction	Process	23811396 34721373
54	Homo sapiens	IEA	involved_in	canonical NF-kappaB signal transduction	Process	-
55	Homo sapiens	IEA	involved_in	JNK cascade	Process	-
56	Homo sapiens	IEA	involved_in	gene expression	Process	-
57	Homo sapiens	IEA	involved_in	regulation of gene expression	Process	-
58	Homo sapiens	IEA	involved_in	positive regulation of macromolecule biosynthetic process	Process	-
59	Homo sapiens	IDA	involved_in	negative regulation of gene expression	Process	26687115
60	Homo sapiens	IGI	involved_in	positive regulation of macrophage derived foam cell differentiation	Process	16938301
61	Homo sapiens	IGI	acts_upstream_of	positive regulation of cholesterol efflux	Process	16938301
62	Homo sapiens	IGI	acts_upstream_of	positive regulation of lipid storage	Process	16938301
63	Homo sapiens	IDA	involved_in	negative regulation of vitamin D biosynthetic process	Process	15243130
64	Homo sapiens	IMP	involved_in	tumor necrosis factor-mediated signaling pathway	Process	20237821
65	Homo sapiens	IEA	part_of	I-kappaB/NF-kappaB complex	Component	-
66	Homo sapiens	IGI	part_of	I-kappaB/NF-kappaB complex	Component	16938301
67	Homo sapiens	TAS	located_in	secretory granule lumen	Component	-
68	Homo sapiens	IBA	part_of	NF-kappaB p50/p65 complex	Component	-
69	Homo sapiens	IEA	part_of	NF-kappaB p50/p65 complex	Component	-
70	Homo sapiens	TAS	located_in	specific granule lumen	Component	-
71	Homo sapiens	IDA	involved_in	non-canonical NF-kappaB signal transduction	Process	8413223
72	Homo sapiens	IEA	enables	identical protein binding	Function	-
73	Homo sapiens	IPI	enables	identical protein binding	Function	12482991 12832462 21988832 25609649
74	Homo sapiens	IPI	enables	actinin binding	Function	25411248
75	Homo sapiens	TAS	involved_in	negative regulation of apoptotic process	Process	10811897
76	Homo sapiens	IEA	enables	sequence-specific DNA binding	Function	-
77	Homo sapiens	IDA	involved_in	positive regulation of DNA-templated transcription	Process	17426251
78	Homo sapiens	IMP	involved_in	positive regulation of DNA-templated transcription	Process	20018240
79	Homo sapiens	NAS	involved_in	positive regulation of DNA-templated transcription	Process	8096091
80	Homo sapiens	IBA	involved_in	positive regulation of transcription by RNA polymerase II	Process	-
81	Homo sapiens	IDA	involved_in	positive regulation of transcription by RNA polymerase II	Process	1406630 23811396
82	Homo sapiens	IGI	involved_in	positive regulation of transcription by RNA polymerase II	Process	16938301
83	Homo sapiens	IMP	acts_upstream_of_or_within	positive regulation of transcription by RNA polymerase II	Process	19955433
84	Homo sapiens	NAS	involved_in	positive regulation of transcription by RNA polymerase II	Process	30205516
85	Homo sapiens	IDA	involved_in	negative regulation of inflammatory response	Process	16424369
86	Homo sapiens	IEA	involved_in	B cell receptor signaling pathway	Process	-
87	Homo sapiens	IEA	involved_in	mammary gland involution	Process	-
88	Homo sapiens	IEA	involved_in	positive regulation of transcription initiation by RNA polymerase II	Process	-
89	Homo sapiens	IEA	involved_in	cellular response to lipopolysaccharide	Process	-
90	Homo sapiens	IMP	acts_upstream_of_or_within	cellular response to lipopolysaccharide	Process	23776175
91	Homo sapiens	IEP	involved_in	cellular response to mechanical stimulus	Process	19593445
92	Homo sapiens	IMP	involved_in	cellular response to nicotine	Process	22357537
93	Homo sapiens	IMP	involved_in	cellular response to interleukin-6	Process	22357537
94	Homo sapiens	IEA	involved_in	cellular response to tumor necrosis factor	Process	-
95	Homo sapiens	IMP	involved_in	positive regulation of canonical Wnt signaling pathway	Process	20018240
96	Homo sapiens	IEA	involved_in	cellular response to interleukin-17	Process	-
97	Homo sapiens	IEA	involved_in	cellular response to virus	Process	-
98	Homo sapiens	ISS	enables	protein sequestering activity	Function	-
99	Homo sapiens	IDA	involved_in	antibacterial innate immune response	Process	20406817
100	Homo sapiens	IDA	involved_in	negative regulation of cytokine production involved in inflammatory response	Process	16968406
101	Homo sapiens	IDA	involved_in	positive regulation of hyaluronan biosynthetic process	Process	17324121
102	Homo sapiens	IMP	involved_in	cellular response to angiotensin	Process	22357537
103	Homo sapiens	IMP	involved_in	positive regulation of miRNA metabolic process	Process	22357537