Reactome | NFKBIA F2_M37del [cytosol]

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, NFKBIA Q9*, NFKBIA Gln9Ter, NFKBIA W11*, NFKBIA Trp11Ter, NFKBIA E14*, NFKBIA Glu14Ter

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General

The NFKBIA F2_M37del is an N-terminal truncated protein that can result from nonsense mutations NFKBIA Q9* (NFKBIA Gln9Ter), NFKBIA W11* (NFKBIA Trp11Ter), and NFKBIA E14* (NFKBIA Glu14Ter), 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

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 [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]

NFKBIA S32I [cytosol]

Modified Residues

Name

Deletion of residues 1 to 36

Disease

Name	Identifier	Synonyms
primary immunodeficiency disease	DOID:612	immune deficiency disorder, immunodeficiency syndrome, hypoimmunity

Cross References

RefSeq

NP_065390.1

ClinGen

CA10603205, CA123693, CA389455462, CA123696

OpenTargets

ENSG00000100906

ZINC - Substances

IKBA_HUMAN

ZINC target

P25963

PRO

P25963

PDB

6TTU, 6Y1J, 1IKN, 1NFI

GeneCards

P25963

HPA

ENSG00000100906-NFKBIA

Ensembl

ENSG00000100906, ENST00000216797, ENSP00000216797

Pharos - Targets

P25963

Orphanet

17400

ZINC - Predictions - Purchasable

IKBA_HUMAN

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 420Wext447 [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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