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2024-04-27 00:44:02, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_020529 1579 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens nuclear factor of kappa light polypeptide gene
enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.
ACCESSION NM_020529
VERSION NM_020529.2 GI:168693660
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1579)
AUTHORS Starokadomskyy,P., Gluck,N., Li,H., Chen,B., Wallis,M., Maine,G.N.,
Mao,X., Zaidi,I.W., Hein,M.Y., McDonald,F.J., Lenzner,S., Zecha,A.,
Ropers,H.H., Kuss,A.W., McGaughran,J., Gecz,J. and Burstein,E.
TITLE CCDC22 deficiency in humans blunts activation of proinflammatory
NF-kappaB signaling
JOURNAL J. Clin. Invest. 123 (5), 2244-2256 (2013)
PUBMED 23563313
REMARK GeneRIF: CCDC22 participates in NF-kappaB activation and its
deficiency leads to decreased IkappaB turnover
REFERENCE 2 (bases 1 to 1579)
AUTHORS Liu,R., Tan,J., Lin,Y., Jia,R., Yang,W., Liang,C., Geng,Y. and
Qiao,W.
TITLE HIV-1 Vpr activates both canonical and noncanonical NF-kappaB
pathway by enhancing the phosphorylation of IKKalpha/beta
JOURNAL Virology 439 (1), 47-56 (2013)
PUBMED 23453579
REMARK GeneRIF: Authors discover that HIV-1 infection elevates the
phosphorylation of IkappaBalpha and p100, and that this increase is
greatly reduced when a Vpr-negative HIV-1 is used for infection.
REFERENCE 3 (bases 1 to 1579)
AUTHORS Ali,S., Hirschfeld,A.F., Mayer,M.L., Fortuno,E.S. III, Corbett,N.,
Kaplan,M., Wang,S., Schneiderman,J., Fjell,C.D., Yan,J.,
Akhabir,L., Aminuddin,F., Marr,N., Lacaze-Masmonteil,T.,
Hegele,R.G., Becker,A., Chan-Yeung,M., Hancock,R.E., Kollmann,T.R.,
Daley,D., Sandford,A.J., Lavoie,P.M. and Turvey,S.E.
TITLE Functional genetic variation in NFKBIA and susceptibility to
childhood asthma, bronchiolitis, and bronchopulmonary dysplasia
JOURNAL J. Immunol. 190 (8), 3949-3958 (2013)
PUBMED 23487427
REMARK GeneRIF: Immunologically relevant genetic variation in the promoter
of NFKBIA is differentially susceptibile to severe bronchiolitis
following infection with respiratory syncytial virus, airway
hyperresponsiveness, and severe bronchopulmonary dysplasia.
REFERENCE 4 (bases 1 to 1579)
AUTHORS Huang,D., Yang,L., Liu,Y., Zhou,Y., Guo,Y., Pan,M., Wang,Y.,
Tan,Y., Zhong,H., Hu,M., Lu,W., Ji,W., Wang,J., Ran,P., Zhong,N.,
Zhou,Y. and Lu,J.
TITLE Functional polymorphisms in NFkappaB1/IkappaBalpha predict risks of
chronic obstructive pulmonary disease and lung cancer in Chinese
JOURNAL Hum. Genet. 132 (4), 451-460 (2013)
PUBMED 23322360
REMARK GeneRIF: a common susceptible mechanism of inflammation in lung
induced by genetic variants in NFkappaB1 (-94del>ins ATTG) or
IkappaBalpha (2758G>A) to predict risk of COPD or lung cancer.
REFERENCE 5 (bases 1 to 1579)
AUTHORS Feng,X., Wang,H., Ye,S., Guan,J., Tan,W., Cheng,S., Wei,G., Wu,W.,
Wu,F. and Zhou,Y.
TITLE Up-regulation of microRNA-126 may contribute to pathogenesis of
ulcerative colitis via regulating NF-kappaB inhibitor IkappaBalpha
JOURNAL PLoS ONE 7 (12), E52782 (2012)
PUBMED 23285182
REMARK GeneRIF: miR-126 may play roles in UC inflammatory activity by
down-regulating the expression of IKBA, an important inhibitor of
NF-kappaB signaling pathway.
REFERENCE 6 (bases 1 to 1579)
AUTHORS Scherer,D.C., Brockman,J.A., Chen,Z., Maniatis,T. and Ballard,D.W.
TITLE Signal-induced degradation of I kappa B alpha requires
site-specific ubiquitination
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (24), 11259-11263 (1995)
PUBMED 7479976
REFERENCE 7 (bases 1 to 1579)
AUTHORS Ganchi,P.A., Sun,S.C., Greene,W.C. and Ballard,D.W.
TITLE I kappa B/MAD-3 masks the nuclear localization signal of NF-kappa B
p65 and requires the transactivation domain to inhibit NF-kappa B
p65 DNA binding
JOURNAL Mol. Biol. Cell 3 (12), 1339-1352 (1992)
PUBMED 1493333
REFERENCE 8 (bases 1 to 1579)
AUTHORS Le Beau,M.M., Ito,C., Cogswell,P., Espinosa,R. III, Fernald,A.A.
and Baldwin,A.S. Jr.
TITLE Chromosomal localization of the genes encoding the p50/p105
subunits of NF-kappa B (NFKB2) and the I kappa B/MAD-3 (NFKBI)
inhibitor of NF-kappa B to 4q24 and 14q13, respectively
JOURNAL Genomics 14 (2), 529-531 (1992)
PUBMED 1427874
REFERENCE 9 (bases 1 to 1579)
AUTHORS Haskill,S., Beg,A.A., Tompkins,S.M., Morris,J.S., Yurochko,A.D.,
Sampson-Johannes,A., Mondal,K., Ralph,P. and Baldwin,A.S. Jr.
TITLE Characterization of an immediate-early gene induced in adherent
monocytes that encodes I kappa B-like activity
JOURNAL Cell 65 (7), 1281-1289 (1991)
PUBMED 1829648
REFERENCE 10 (bases 1 to 1579)
AUTHORS Baeuerle,P.A. and Baltimore,D.
TITLE I kappa B: a specific inhibitor of the NF-kappa B transcription
factor
JOURNAL Science 242 (4878), 540-546 (1988)
PUBMED 3140380
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL133163.3, BC004983.1 and
BU737609.1.
This sequence is a reference standard in the RefSeqGene project.
On Feb 23, 2008 this sequence version replaced gi:10092618.
Summary: This gene encodes a member of the NF-kappa-B inhibitor
family, which contain multiple ankrin repeat domains. The encoded
protein interacts with REL dimers to inhibit NF-kappa-B/REL
complexes which are involved in inflammatory responses. The encoded
protein moves between the cytoplasm and the nucleus via a nuclear
localization signal and CRM1-mediated nuclear export. Mutations in
this gene have been found in ectodermal dysplasia anhidrotic with
T-cell immunodeficiency autosomal dominant disease. [provided by
RefSeq, Aug 2011].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC002601.2, M69043.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-17 AL133163.3 104527-104543 c
18-415 BC004983.1 1-398
416-416 AL133163.3 103509-103509 c
417-1564 BC004983.1 400-1547
1565-1579 BU737609.1 1-15 c
FEATURES Location/Qualifiers
source 1..1579
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q13"
gene 1..1579
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/note="nuclear factor of kappa light polypeptide gene
enhancer in B-cells inhibitor, alpha"
/db_xref="GeneID:4792"
/db_xref="HGNC:7797"
/db_xref="HPRD:01235"
/db_xref="MIM:164008"
exon 1..337
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/inference="alignment:Splign:1.39.8"
variation 25..26
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:11569615"
variation 25..26
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace=""
/replace="tgccgtcc"
/db_xref="dbSNP:11569614"
variation 34..35
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace=""
/replace="ccgcccgc"
/db_xref="dbSNP:11569617"
variation 77
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="a"
/replace="g"
/db_xref="dbSNP:2233410"
CDS 111..1064
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/note="nuclear factor of kappa light chain gene enhancer
in B-cells; IkappaBalpha; major histocompatibility complex
enhancer-binding protein MAD3; ikB-alpha; I-kappa-B-alpha"
/codon_start=1
/product="NF-kappa-B inhibitor alpha"
/protein_id="NP_065390.1"
/db_xref="GI:10092619"
/db_xref="CCDS:CCDS9656.1"
/db_xref="GeneID:4792"
/db_xref="HGNC:7797"
/db_xref="HPRD:01235"
/db_xref="MIM:164008"
/translation="
MFQAAERPQEWAMEGPRDGLKKERLLDDRHDSGLDSMKDEEYEQMVKELQEIRLEPQEVPRGSEPWKQQLTEDGDSFLHLAIIHEEKALTMEVIRQVKGDLAFLNFQNNLQQTPLHLAVITNQPEIAEALLGAGCDPELRDFRGNTPLHLACEQGCLASVGVLTQSCTTPHLHSILKATNYNGHTCLHLASIHGYLGIVELLVSLGADVNAQEPCNGRTALHLAVDLQNPDLVSLLLKCGADVNRVTYQGYSPYQLTWGRPSTRIQQQLGQLTLENLQMLPESEDEESYDTESEFTEFTEDELPYDDCVFGGQRLTL
"
misc_feature 171..173
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="ubiquitination site; modified site"
/citation=[6]
misc_feature 171..173
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="sumoylation site; modified site"
/db_xref="HPRD:05000"
misc_feature 174..176
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="ubiquitination site; modified site"
/citation=[6]
misc_feature 198..218
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P25963.1);
Region: Destruction motif"
misc_feature 204..206
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by IKKA and IKKE; propagated from
UniProtKB/Swiss-Prot (P25963.1); phosphorylation site"
misc_feature 204..206
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00277"
misc_feature 204..206
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01468"
misc_feature 204..206
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:03402"
misc_feature 204..206
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:04462"
misc_feature 204..206
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:02217"
misc_feature 216..218
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by IKKA, IKKB, IKKE and TBK1;
propagated from UniProtKB/Swiss-Prot (P25963.1);
phosphorylation site"
misc_feature 216..218
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00277"
misc_feature 216..218
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:04462"
misc_feature 216..218
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:05322"
misc_feature 216..218
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:05442"
misc_feature 234..236
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="dephosphorylation site; modified site"
/db_xref="HPRD:02602"
misc_feature 234..236
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine, by Tyr-kinases; propagated from
UniProtKB/Swiss-Prot (P25963.1); phosphorylation site"
misc_feature 234..236
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01080"
misc_feature 234..236
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01819"
misc_feature 243..272
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P25963.1);
Region: Nuclear export signal"
misc_feature 327..419
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P25963.1);
Region: ANK 1"
misc_feature 420..563
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/note="Ankyrin repeats (many copies); Region: Ank_5;
pfam13857"
/db_xref="CDD:206028"
misc_feature 423..821
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/note="ankyrin repeats; ankyrin repeats mediate
protein-protein interactions in very diverse families of
proteins. The number of ANK repeats in a protein can range
from 2 to over 20 (ankyrins, for example). ANK repeats may
occur in combinations with other...; Region: ANK; cd00204"
/db_xref="CDD:29261"
misc_feature 438..527
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P25963.1);
Region: ANK 2"
misc_feature 438..470
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P25963.1);
Region: Nuclear import signal"
misc_feature 537..626
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P25963.1);
Region: ANK 3"
misc_feature 552..848
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/note="Ankyrin repeats (3 copies); Region: Ank_2;
pfam12796"
/db_xref="CDD:205076"
misc_feature 654..743
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P25963.1);
Region: ANK 4"
misc_feature 738..740
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="(3S)-3-hydroxyasparagine, by HIF1AN, partial;
propagated from UniProtKB/Swiss-Prot (P25963.1);
hydroxylation site"
misc_feature 756..845
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P25963.1);
Region: ANK 5"
misc_feature 840..842
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="(3S)-3-hydroxyasparagine, by HIF1AN, partial;
propagated from UniProtKB/Swiss-Prot (P25963.1);
hydroxylation site"
misc_feature 957..959
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by CK2; propagated from
UniProtKB/Swiss-Prot (P25963.1); phosphorylation site"
misc_feature 957..959
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00277"
misc_feature 972..974
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by CK2; propagated from
UniProtKB/Swiss-Prot (P25963.1); phosphorylation site"
misc_feature 972..974
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00277"
misc_feature 981..983
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine, by CK2; propagated from
UniProtKB/Swiss-Prot (P25963.1); phosphorylation site"
misc_feature 981..983
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00277"
misc_feature 987..989
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by CK2; propagated from
UniProtKB/Swiss-Prot (P25963.1); phosphorylation site"
misc_feature 987..989
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00277"
misc_feature 1005..1007
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine, by CK2; propagated from
UniProtKB/Swiss-Prot (P25963.1); phosphorylation site"
variation 188
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="a"
/replace="g"
/db_xref="dbSNP:8192285"
exon 338..446
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/inference="alignment:Splign:1.39.8"
variation 353
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="c"
/replace="t"
/db_xref="dbSNP:2233412"
variation 392
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="c"
/replace="t"
/db_xref="dbSNP:2233413"
variation 416
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="c"
/replace="t"
/db_xref="dbSNP:1050851"
exon 447..657
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/inference="alignment:Splign:1.39.8"
exon 658..746
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/inference="alignment:Splign:1.39.8"
exon 747..1016
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/inference="alignment:Splign:1.39.8"
STS 824..995
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/standard_name="NFKBIA"
/db_xref="UniSTS:264121"
exon 1017..1567
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/inference="alignment:Splign:1.39.8"
variation 1039
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="c"
/replace="t"
/db_xref="dbSNP:1803939"
variation 1066
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="c"
/replace="t"
/db_xref="dbSNP:8904"
STS 1074..1497
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/standard_name="GDB:366518"
/db_xref="UniSTS:156813"
variation 1082
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="c"
/replace="g"
/db_xref="dbSNP:9333352"
variation 1135
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="a"
/replace="g"
/db_xref="dbSNP:1131420"
variation 1140
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace=""
/replace="aag"
/db_xref="dbSNP:70937093"
variation 1141
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace=""
/replace="aaa"
/db_xref="dbSNP:11569608"
variation 1151
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="a"
/replace="t"
/db_xref="dbSNP:3209769"
STS 1158..1332
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/standard_name="G44344"
/db_xref="UniSTS:95131"
STS 1168..1387
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/standard_name="NFKBIA"
/db_xref="UniSTS:480425"
variation 1190
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="a"
/replace="g"
/db_xref="dbSNP:696"
STS 1199..1395
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/standard_name="D14S1326"
/db_xref="UniSTS:35158"
STS 1207..1476
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/standard_name="RH69167"
/db_xref="UniSTS:75491"
variation 1207..1208
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace=""
/replace="tt"
/db_xref="dbSNP:11569610"
variation 1327
/gene="NFKBIA"
/gene_synonym="IKBA; MAD-3; NFKBI"
/replace="g"
/replace="t"
/db_xref="dbSNP:11569620"
ORIGIN
agcccacagcagtccgtgccgccgtcccgcccgccagcgccccagcgaggaagcagcgcgcagcccgcggcccagcgcacccgcagcagcgcccgcagctcgtccgcgccatgttccaggcggccgagcgcccccaggagtgggccatggagggcccccgcgacgggctgaagaaggagcggctactggacgaccgccacgacagcggcctggactccatgaaagacgaggagtacgagcagatggtcaaggagctgcaggagatccgcctcgagccgcaggaggtgccgcgcggctcggagccctggaagcagcagctcaccgaggacggggactcgttcctgcacttggccatcatccatgaagaaaaggcactgaccatggaagtgatccgccaggtgaagggagacctggccttcctcaacttccagaacaacctgcagcagactccactccacttggctgtgatcaccaaccagccagaaattgctgaggcacttctgggagctggctgtgatcctgagctccgagactttcgaggaaatacccccctacaccttgcctgtgagcagggctgcctggccagcgtgggagtcctgactcagtcctgcaccaccccgcacctccactccatcctgaaggctaccaactacaatggccacacgtgtctacacttagcctctatccatggctacctgggcatcgtggagcttttggtgtccttgggtgctgatgtcaatgctcaggagccctgtaatggccggactgcccttcacctcgcagtggacctgcaaaatcctgacctggtgtcactcctgttgaagtgtggggctgatgtcaacagagttacctaccagggctattctccctaccagctcacctggggccgcccaagcacccggatacagcagcagctgggccagctgacactagaaaaccttcagatgctgccagagagtgaggatgaggagagctatgacacagagtcagagttcacggagttcacagaggacgagctgccctatgatgactgtgtgtttggaggccagcgtctgacgttatgagcgcaaaggggctgaaagaacatggacttgtatatttgtacaaaaaaaaagttttatttttctaaaaaaagaaaaaagaagaaaaaatttaaagggtgtacttatatccacactgcacactgcctggcccaaaacgtcttattgtggtaggatcagccctcattttgttgcttttgtgaactttttgtaggggacgagaaagatcattgaaattctgagaaaacttcttttaaacctcacctttgtggggtttttggagaaggttatcaaaaatttcatggaaggaccacattttatatttattgtgcttcgagtgactgaccccagtggtatcctgtgacatgtaacagccaggagtgttaagcgttcagtgatgtggggtgaaaagttactacctgtcaaggtttgtgttaccctcctgtaaatggtgtacataatgtattgttggtaattattttggtacttttatgatgtatatttattaaacagatttttacaaatgaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4792 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:4792 -> Molecular function: GO:0008134 [transcription factor binding] evidence: TAS
GeneID:4792 -> Molecular function: GO:0008139 [nuclear localization sequence binding] evidence: IPI
GeneID:4792 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI
GeneID:4792 -> Molecular function: GO:0031072 [heat shock protein binding] evidence: IEA
GeneID:4792 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IPI
GeneID:4792 -> Molecular function: GO:0032403 [protein complex binding] evidence: IEA
GeneID:4792 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI
GeneID:4792 -> Molecular function: GO:0051059 [NF-kappaB binding] evidence: IDA
GeneID:4792 -> Molecular function: GO:0051059 [NF-kappaB binding] evidence: IPI
GeneID:4792 -> Biological process: GO:0000060 [protein import into nucleus, translocation] evidence: IEA
GeneID:4792 -> Biological process: GO:0002224 [toll-like receptor signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0002755 [MyD88-dependent toll-like receptor signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0002756 [MyD88-independent toll-like receptor signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:4792 -> Biological process: GO:0007253 [cytoplasmic sequestering of NF-kappaB] evidence: IMP
GeneID:4792 -> Biological process: GO:0010745 [negative regulation of macrophage derived foam cell differentiation] evidence: IMP
GeneID:4792 -> Biological process: GO:0010875 [positive regulation of cholesterol efflux] evidence: IMP
GeneID:4792 -> Biological process: GO:0010888 [negative regulation of lipid storage] evidence: IMP
GeneID:4792 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:4792 -> Biological process: GO:0031663 [lipopolysaccharide-mediated signaling pathway] evidence: IEA
GeneID:4792 -> Biological process: GO:0032088 [negative regulation of NF-kappaB transcription factor activity] evidence: IDA
GeneID:4792 -> Biological process: GO:0032270 [positive regulation of cellular protein metabolic process] evidence: IMP
GeneID:4792 -> Biological process: GO:0032481 [positive regulation of type I interferon production] evidence: TAS
GeneID:4792 -> Biological process: GO:0032495 [response to muramyl dipeptide] evidence: IEA
GeneID:4792 -> Biological process: GO:0034134 [toll-like receptor 2 signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0034138 [toll-like receptor 3 signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0034142 [toll-like receptor 4 signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0034146 [toll-like receptor 5 signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0034162 [toll-like receptor 9 signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0034166 [toll-like receptor 10 signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0035666 [TRIF-dependent toll-like receptor signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0038095 [Fc-epsilon receptor signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0038123 [toll-like receptor TLR1:TLR2 signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0038124 [toll-like receptor TLR6:TLR2 signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: IEA
GeneID:4792 -> Biological process: GO:0042345 [regulation of NF-kappaB import into nucleus] evidence: NAS
GeneID:4792 -> Biological process: GO:0042994 [cytoplasmic sequestering of transcription factor] evidence: IDA
GeneID:4792 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: TAS
GeneID:4792 -> Biological process: GO:0043330 [response to exogenous dsRNA] evidence: IEA
GeneID:4792 -> Biological process: GO:0043392 [negative regulation of DNA binding] evidence: NAS
GeneID:4792 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
GeneID:4792 -> Biological process: GO:0045638 [negative regulation of myeloid cell differentiation] evidence: IEA
GeneID:4792 -> Biological process: GO:0045746 [negative regulation of Notch signaling pathway] evidence: IEA
GeneID:4792 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
GeneID:4792 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IMP
GeneID:4792 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0050852 [T cell receptor signaling pathway] evidence: TAS
GeneID:4792 -> Biological process: GO:0051092 [positive regulation of NF-kappaB transcription factor activity] evidence: TAS
GeneID:4792 -> Biological process: GO:0070417 [cellular response to cold] evidence: NAS
GeneID:4792 -> Biological process: GO:0070427 [nucleotide-binding oligomerization domain containing 1 signaling pathway] evidence: IEA
GeneID:4792 -> Biological process: GO:0070431 [nucleotide-binding oligomerization domain containing 2 signaling pathway] evidence: IEA
GeneID:4792 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:4792 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:4792 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:4792 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:4792 -> Cellular component: GO:0033256 [I-kappaB/NF-kappaB complex] evidence: TAS
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DBCLS
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