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NFKBIA S32I [cytosol]
Stable Identifier
R-HSA-5228846
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
IkBA S32I , NF-kappaB inhibitor alpha, IkappaBalpha
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of Immune System (Homo sapiens)
Diseases associated with the TLR signaling cascade (Homo sapiens)
IkBA variant leads to EDA-ID (Homo sapiens)
NFKBIA variant binds NFkB complex (Homo sapiens)
NFKBIA variants [cytosol] (Homo sapiens)
NFKBIA S32I [cytosol] (Homo sapiens)
NFKBIA variants:NFkB complex [cytosol] (Homo sapiens)
NFKBIA variants [cytosol] (Homo sapiens)
NFKBIA S32I [cytosol] (Homo sapiens)
NFKBIA variant is not phosphorylated within IkBA:NF-kappaB (Homo sapiens)
NFKBIA variants:NFkB complex [cytosol] (Homo sapiens)
NFKBIA variants [cytosol] (Homo sapiens)
NFKBIA S32I [cytosol] (Homo sapiens)
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
ENSEMBL:ENSG00000100906.12 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
RefSeq:NM_020529.2 NFKBIA
Other Identifiers
11744000_a_at
11745878_x_at
11757894_x_at
1461_at
16791991
201502_PM_s_at
201502_s_at
3561040
3561041
3561043
3561044
3561046
3561048
3561050
3561053
3561054
4792
7978644
A_23_P106002
GE82547
GO:0002376
GO:0005515
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0006351
GO:0006355
GO:0006606
GO:0006886
GO:0006913
GO:0006915
GO:0006954
GO:0007219
GO:0007249
GO:0007253
GO:0008139
GO:0010468
GO:0010745
GO:0010875
GO:0010888
GO:0012501
GO:0019899
GO:0023052
GO:0030154
GO:0031625
GO:0031663
GO:0032088
GO:0032495
GO:0032496
GO:0033209
GO:0033256
GO:0034142
GO:0035994
GO:0038061
GO:0042127
GO:0042802
GO:0042994
GO:0043226
GO:0043330
GO:0043392
GO:0045638
GO:0045746
GO:0045893
GO:0045944
GO:0048856
GO:0050729
GO:0050853
GO:0051059
GO:0051247
GO:0060261
GO:0070417
GO:0070427
GO:0070431
GO:0071356
GO:0140311
GO:0140313
GO:1901222
HMNXSV003036480
Hs.81328.0.S1_3p_a_at
M69043_at
PH_hs_0004662
TC14001036.hg
Participates
as a member of
NFKBIA variants [cytosol] (Homo sapiens)
Other forms of this molecule
PolyUb-NFKBIA [cytosol]
NFKBIA M37K [cytosol]
NFKBIA F2_M37del [cytosol]
NFKBIA [cytosol]
p-S32,S36-NFKBIA [cytosol]
K48PolyUb-K21,22-p-S32,S36-IkBA [cytosol]
Ub-K21,22-p-S32,S36-NFKBIA [cytosol]
NFKBIA [nucleoplasm]
monoSUMO1-K21-NFKBIA [nucleoplasm]
Ub-K21,22-p-S32,S36-NFKBIA [cytosol]
Modified Residues
Name
L-serine 32 replaced with L-isoleucine
Coordinate
32
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
Disease
Name
Identifier
Synonyms
primary immunodeficiency disease
DOID:612
immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
Cross References
RefSeq
NP_065390.1
OpenTargets
ENSG00000100906
ZINC - Substances
IKBA_HUMAN
GeneCards
P25963
HPA
ENSG00000100906-NFKBIA
Ensembl
ENSG00000100906
,
ENST00000216797
,
ENSP00000216797
ZINC target
P25963
PRO
P25963
Pharos - Targets
P25963
Orphanet
17400
ZINC - Predictions - Purchasable
IKBA_HUMAN
PDB
6TTU
,
6Y1J
,
1IKN
,
1NFI
Interactors (37)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q04206 RELA
6
MeK310-RELA [nucleoplasm]
(R-HSA-8865233)
polySUMO3-K37,K122,K123-RELA [nucleoplasm]
(R-HSA-4755466)
p-S276,5xAcK-RELA [nucleoplasm]
(R-HSA-5660642)
p-S276-RELA [nucleoplasm]
(R-HSA-5624468)
RELA [cytosol]
(R-HSA-168172)
RELA [nucleoplasm]
(R-HSA-177676)
0.975
25
UniProt:O14920 IKBKB
3
IKBKB Q432Pfs*62 [cytosol]
(R-HSA-9628518)
IKBKB [cytosol]
(R-HSA-168114)
p-S177,S181-IKBKB [cytosol]
(R-HSA-202506)
0.969
27
UniProt:O15111 CHUK
3
CHUK [cytosol]
(R-HSA-168104)
p-S176,S180-CHUK [cytosol]
(R-HSA-177667)
p-T23-CHUK [cytosol]
(R-HSA-198615)
0.95
15
UniProt:P19838 NFKB1
8
NFKB1(1-968) [secretory granule lumen]
(R-HSA-6801004)
NFKB1(1-968) [extracellular region]
(R-HSA-6806304)
NFKB1(1-968) [specific granule lumen]
(R-HSA-6799557)
NFKB1(1-433) [cytosol]
(R-HSA-168168)
NFKB1(1-433) [nucleoplasm]
(R-HSA-177655)
NFKB1(1-968) [cytosol]
(R-HSA-451607)
p-S927,S932-NFKB1(1-968) [cytosol]
(R-HSA-451611)
3xUb-p-S927,S932-NFKB1(1-968) [cytosol]
(R-HSA-451619)
0.919
9
UniProt:Q9Y6K9 IKBKG
12
IKBKG D406V [cytosol]
(R-HSA-5262943)
IKBKG L153R [cytosol]
(R-HSA-5262879)
IKBKG E391* [cytosol]
(R-HSA-5262924)
IKBKG C417R [cytosol]
(R-HSA-5262858)
IKBKG R173G [cytosol]
(R-HSA-5262966)
IKBKG R175P [cytosol]
(R-HSA-5262916)
IKBKG *420Wext*447 [cytosol]
(R-HSA-5262978)
monoSUMO1-K277,K309-IKBKG [nucleoplasm]
(R-HSA-4755449)
IKBKG [nucleoplasm]
(R-HSA-4755413)
K63polyUb-IKBKG [cytosol]
(R-HSA-202530)
Ub-285-IKBKG [cytosol]
(R-HSA-741397)
IKBKG [cytosol]
(R-HSA-168108)
0.845
6
UniProt:Q9NWT6 HIF1AN
1
HIF1AN [cytosol]
(R-HSA-1234154)
0.734
6
IntAct:EBI-4399559 UBIQ
0.722
3
IntAct:EBI-10826665 NKILA
0.706
15
UniProt:P23396 RPS3
2
RPS3 [nucleoplasm]
(R-HSA-6798714)
RPS3 [cytosol]
(R-HSA-72369)
0.677
6
UniProt:Q04864 REL
2
REL [cytosol]
(R-HSA-1168579)
REL [nucleoplasm]
(R-HSA-1168585)
0.669
4
UniProt:P0CG48 UBC
20
UBC(381-456) [endocytic vesicle membrane]
(R-HSA-939218)
UBC(533-608) [endocytic vesicle membrane]
(R-HSA-939220)
UBC(609-684) [endocytic vesicle membrane]
(R-HSA-939223)
UBC(457-532) [endocytic vesicle membrane]
(R-HSA-939195)
UBC(153-228) [endocytic vesicle membrane]
(R-HSA-939194)
UBC(305-380) [endocytic vesicle membrane]
(R-HSA-939228)
UBC(229-304) [endocytic vesicle membrane]
(R-HSA-939177)
UBC(77-152) [endocytic vesicle membrane]
(R-HSA-939210)
UBC(1-76) [endocytic vesicle membrane]
(R-HSA-939245)
Ub-565-UBC(533-608) [mitochondrial outer membrane]
(R-HSA-6783166)
Ub-337-UBC(305-380) [mitochondrial outer membrane]
(R-HSA-6783121)
Ub-185-UBC(153-228) [mitochondrial outer membrane]
(R-HSA-6783154)
Ub-261-UBC(229-304) [mitochondrial outer membrane]
(R-HSA-6783028)
Ub-413-UBC(381-456) [mitochondrial outer membrane]
(R-HSA-6783061)
Ub-109-UBC(77-152) [mitochondrial outer membrane]
(R-HSA-6783158)
Ub-641-UBC(609-684) [mitochondrial outer membrane]
(R-HSA-6783182)
Ub-33-UBC(1-76) [mitochondrial outer membrane]
(R-HSA-6783073)
Ub-489-UBC(457-532) [mitochondrial outer membrane]
(R-HSA-6783078)
Ub-291-UBC(229-304) [mitochondrial outer membrane]
(R-HSA-6783193)
Ub-595-UBC(533-608) [mitochondrial outer membrane]
(R-HSA-6783130)
0.656
3
UniProt:Q04206-1 RELA
0.611
6
UniProt:P21530-PRO_0000038062
0.593
4
UniProt:Q9J0X9 Q9J0X9
0.591
3
UniProt:P25963 NFKBIA
11
PolyUb-NFKBIA [cytosol]
(R-HSA-6782960)
NFKBIA M37K [cytosol]
(R-HSA-5228805)
NFKBIA F2_M37del [cytosol]
(R-HSA-9630119)
NFKBIA [cytosol]
(R-HSA-168151)
p-S32,S36-NFKBIA [cytosol]
(R-HSA-177677)
K48PolyUb-K21,22-p-S32,S36-IkBA [cytosol]
(R-HSA-5607659)
Ub-K21,22-p-S32,S36-NFKBIA [cytosol]
(R-HSA-1168581)
NFKBIA [nucleoplasm]
(R-HSA-4656929)
monoSUMO1-K21-NFKBIA [nucleoplasm]
(R-HSA-4656935)
Ub-K21,22-p-S32,S36-NFKBIA [cytosol]
(R-HSA-9711050)
NFKBIA S32I [cytosol]
(R-HSA-5228846)
0.589
3
UniProt:Q04207
6
Rela [nucleoplasm]
(R-MMU-177676)
Rela [cytosol]
(R-MMU-168172)
phospho-Rela [nucleoplasm]
(R-MMU-5624468)
phospho-Rela [nucleoplasm]
(R-MMU-5660642)
Rela [nucleoplasm]
(R-MMU-4755466)
Rela [nucleoplasm]
(R-MMU-8865233)
0.589
2
UniProt:Q8N668 COMMD1
2
COMMD1 [nucleoplasm]
(R-HSA-8955094)
COMMD1 [cytosol]
(R-HSA-8955110)
0.576
3
UniProt:P35221 CTNNA1
2
CTNNA1 [cytosol]
(R-HSA-191697)
CTNNA1 [plasma membrane]
(R-HSA-191735)
0.576
5
UniProt:Q04206-2 RELA
0.564
3
UniProt:Q9UKB1 FBXW11
1
FBXW11 [cytosol]
(R-HSA-976035)
0.564
2
UniProt:O00411 POLRMT
1
POLRMT [mitochondrial matrix]
(R-HSA-163267)
0.564
2
UniProt:Q01201 RELB
2
RELB [nucleoplasm]
(R-HSA-5607656)
RELB [cytosol]
(R-HSA-5607652)
0.564
2
UniProt:Q00653 NFKB2
6
monoSUMO1-K90,K298,K689,K863-NFKB2(1-900) [cytosol]
(R-HSA-4755500)
NFKB2(1-900) [cytosol]
(R-HSA-2677931)
K48-polyUb-p-7S-p100 [cytosol]
(R-HSA-5607636)
p-7S-p100 [cytosol]
(R-HSA-5607629)
NFKB2(1-454) [cytosol]
(R-HSA-168144)
NFKB2(1-454) [nucleoplasm]
(R-HSA-177674)
0.564
3
UniProt:Q9Y297 BTRC
2
BTRC [cytosol]
(R-HSA-174237)
BTRC [nucleoplasm]
(R-HSA-3361753)
0.564
2
UniProt:P25098 GRK2
4
p-S29-ADRBK1 [cytosol]
(R-HSA-9645318)
ADRBK1 [cilium]
(R-HSA-5632504)
p-S29-ADRBK1 [plasma membrane]
(R-HSA-111969)
GRK2 [plasma membrane]
(R-HSA-50270)
0.558
2
UniProt:P34947 GRK5
1
GRK5 [plasma membrane]
(R-HSA-416468)
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
PSMD3 [secretory granule lumen]
(R-HSA-6800873)
PSMD3 [extracellular region]
(R-HSA-6806443)
PSMD3 [ficolin-1-rich granule lumen]
(R-HSA-6800408)
PSMD3 [nucleoplasm]
(R-HSA-174328)
PSMD3 [cytosol]
(R-HSA-68798)
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
16
p-Y-PIK3R1 [cytosol]
(R-HSA-9680647)
PIK3R1 G376R [plasma membrane]
(R-HSA-2399717)
PIK3R1 K379E [plasma membrane]
(R-HSA-8944148)
PIK3R1 Y463_L466del [plasma membrane]
(R-HSA-2399546)
PIK3R1 H450_E451del [plasma membrane]
(R-HSA-2399545)
PIK3R1 R574_T576del [plasma membrane]
(R-HSA-2399544)
PIK3R1 D560Y [plasma membrane]
(R-HSA-2399421)
PIK3R1 N564D [plasma membrane]
(R-HSA-2399427)
PIK3R1 K459del [plasma membrane]
(R-HSA-2399554)
PIK3R1 N564K [plasma membrane]
(R-HSA-2399431)
PIK3R1 D560H [plasma membrane]
(R-HSA-2399432)
PIK3R1 R574I [plasma membrane]
(R-HSA-2399536)
PIK3R1 R574T [plasma membrane]
(R-HSA-2399540)
K63polyUb-PIK3R1 [cytosol]
(R-HSA-3080572)
PIK3R1 [cytosol]
(R-HSA-74789)
PIK3R1 [plasma membrane]
(R-HSA-198365)
0.462
2
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