NFKBIA F2_M37del [cytosol]

Stable Identifier
R-HSA-9630119
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
IkBA F2_M37del, NF-kappaB inhibitor alpha, IkappaBalpha
Icon
NFKBIA F2_M37del [cytosol] icon
NFKBIA F2_M37del [cytosol] icon
Locations in the PathwayBrowser
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General

The NFKBIA F2_M37del is an N-terminal truncated protein that can result from nonsense mutations Q9TER, W11TER and E14TER, that lead to an activation of downstream translation initiation site M37 resulting in the deletion of M1-S36.

External Reference Information
External Reference
UniProt:P25963 NFKBIA
Gene Names
NFKBIA, IKBA, MAD3, NFKBI
Chain
chain:1-317
Reference Genes
BioGPS Gene:4792 NFKBIA
COSMIC (genes):NFKBIA NFKBIA
CTD Gene:4792 NFKBIA
dbSNP Gene:4792 NFKBIA
ENSEMBL:ENSG00000100906 NFKBIA
HGNC:7797 NFKBIA
KEGG Gene (Homo sapiens):4792 NFKBIA
Monarch:4792 NFKBIA
NCBI Gene:4792 NFKBIA
OMIM:164008 NFKBIA
UCSC:P25963 NFKBIA
Reference Transcript
Other Identifiers
0001050280
11744000_a_at
11745878_x_at
11757894_x_at
1461_at
16791991
201502_s_at
3561040
3561041
3561043
3561044
3561046
3561048
3561050
3561053
3561054
4792
7978644
A_23_P106002
GE82547
GO:0002376
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0006464
GO:0006606
GO:0006810
GO:0006913
GO:0006915
GO:0006950
GO:0007165
GO:0007249
GO:0007253
GO:0008134
GO:0008139
GO:0008150
GO:0008219
GO:0008283
GO:0009058
GO:0010468
GO:0010745
GO:0010875
GO:0010888
GO:0015031
GO:0016032
GO:0016579
GO:0019899
GO:0030154
GO:0031625
GO:0031663
GO:0032088
GO:0032270
GO:0032495
GO:0032496
GO:0032991
GO:0033209
GO:0033256
GO:0034142
GO:0034641
GO:0035994
GO:0042127
GO:0042802
GO:0042994
GO:0043066
GO:0043226
GO:0043330
GO:0043392
GO:0044403
GO:0045638
GO:0045746
GO:0045893
GO:0045944
GO:0048856
GO:0050729
GO:0051059
GO:0070417
GO:0070427
GO:0070431
GO:0070498
GO:0071356
GO:1901222
HMNXSV003036480
Hs.81328.0.S1_3p_a_at
ILMN_1773154
M69043_at
PH_hs_0004662
TC14001036.hg
Participates
as a member of
Other forms of this molecule
PolyUb-NFKBIA [cytosol]
SUMO1-K21-NFKBIA [nucleoplasm]
NFKBIA [cytosol]
p-S32,S36-NFKBIA [cytosol]
Ub-21,22-p-S32,S36-NFKBIA [cytosol]
K48PolyUb-K21,22-p-S32,S36-IkBA [cytosol]
NFKBIA S32I [cytosol]
NFKBIA M37K [cytosol]
NFKBIA [nucleoplasm]
Modified Residues
Name
L-glutamic acid 14 replaced with unknown
Coordinate
14
PsiMod
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name Identifier Synonyms
primary immunodeficiency disease DOID:612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
Cross References
RefSeq
OpenTargets
HPA
ZINC - Substances
GeneCards
ZINC target
Ensembl
PRO
Orphanet
ZINC - Predictions - Purchasable
PDB
Interactors (37)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q04206 RELA  6 0.975 25
 UniProt:O14920 IKBKB  3 0.969 27
 UniProt:O15111 CHUK  3 0.95 15
 UniProt:P19838 NFKB1  8 0.88 7
 UniProt:Q9Y6K9 IKBKG  12 0.845 6
 UniProt:Q9NWT6 HIF1AN  1 0.734 6
 IntAct:EBI-4399559 UBIQ      0.722 3
 IntAct:EBI-10826665 NKILA      0.706 15
 UniProt:P23396 RPS3  2 0.677 6
 UniProt:Q04864 REL  2 0.669 4
 UniProt:P0CG48 UBC  325 0.656 3
 UniProt:Q04206-1 RELA      0.611 6
 UniProt:P21530-PRO_0000038062      0.593 4
 UniProt:Q9J0X9 Q9J0X9      0.591 3
 UniProt:Q04207  6 0.589 2
 UniProt:P25963 NFKBIA  10 0.589 3
 UniProt:P35221 CTNNA1  2 0.576 5
 UniProt:Q8N668 COMMD1  2 0.576 3
 UniProt:Q04206-2 RELA      0.564 3
 UniProt:O00411 POLRMT  1 0.564 2
 UniProt:Q9UKB1 FBXW11  1 0.564 2
 UniProt:Q01201 RELB  2 0.564 2
 UniProt:Q9Y297 BTRC  2 0.564 2
 UniProt:Q00653 NFKB2  8 0.564 3
 UniProt:P25098 GRK2  4 0.558 2
 UniProt:P34947 GRK5  1 0.558 2
 UniProt:P56279 TCL1A      0.556 3
 UniProt:Q9H0I2 ENKD1      0.556 3
 UniProt:Q14511-2 NEDD9      0.556 3
 UniProt:Q96HA1-2 POM121      0.556 3
 UniProt:O43242 PSMD3  5 0.556 3
 UniProt:Q14511 CASL      0.556 3
 UniProt:P14340-PRO_0000037965      0.524 2
 UniProt:P14340 POLG      0.524 2
 UniProt:Q9E7P0 Q9E7P0      0.508 2
 UniProt:P25799-1 NFKB1      0.499 2
 UniProt:P27986 PIK3R1  15 0.462 2
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