Reactome | MyD88 E65del [cytosol]

MyD88 E65del [cytosol]

Stable Identifier

R-HSA-5602598

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

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Literature References

PubMed ID	Title	Journal	Year
23002119	IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients Weller, S, Bonnet, M, Delagreverie, H, Israel, L, Chrabieh, M, Maródi, L, Rodriguez-Gallego, C, Garty, BZ, Roifman, C, Issekutz, AC, Zitnik, SE, Hoarau, C, Camcioglu, Y, Vasconcelos, J, Rodrigo, C, Arkwright, PD, Cerutti, A, Meffre, E, Zhang, SY, Alcais, A, Puel, A, Casanova, JL, Picard, C, Weill, JC, Reynaud, CA	Blood	2012

External Reference Information

External Reference

UniProt:Q99836 MYD88

Gene Names

MYD88

Chain

chain:1-296

Reference Genes

BioGPS Gene:4615 MYD88

COSMIC (genes):MYD88 MYD88

CTD Gene:4615 MYD88

dbSNP Gene:4615 MYD88

ENSEMBL:ENSG00000172936 MYD88

HGNC:7562 MYD88

KEGG Gene (Homo sapiens):4615 MYD88

Monarch:4615 MYD88

NCBI Gene:4615 MYD88

OMIM:602170 MYD88

UCSC:Q99836 MYD88

Reference Transcript

Other Identifiers

0001400128

11720623_a_at

11720624_a_at

11747538_a_at

11747539_x_at

16939127

209124_at

2617564

2617565

2617566

2617567

2617570

2617572

2617574

2617576

2617577

2617578

38369_at

4615

8078729

A_14_P101666

A_14_P118253

A_23_P362659

A_23_P92140

GE59370

GO:0002224

GO:0002238

GO:0002376

GO:0002755

GO:0003674

GO:0005102

GO:0005121

GO:0005123

GO:0005149

GO:0005515

GO:0005575

GO:0005622

GO:0005634

GO:0005737

GO:0005768

GO:0005829

GO:0005886

GO:0006464

GO:0006810

GO:0006909

GO:0006915

GO:0006950

GO:0006954

GO:0007165

GO:0007166

GO:0007254

GO:0008063

GO:0008150

GO:0008219

GO:0008283

GO:0009056

GO:0009058

GO:0009615

GO:0009682

GO:0010008

GO:0010468

GO:0010628

GO:0014069

GO:0016064

GO:0016192

GO:0019221

GO:0030154

GO:0031410

GO:0031663

GO:0032481

GO:0032494

GO:0032496

GO:0032606

GO:0032675

GO:0032680

GO:0032740

GO:0032747

GO:0032755

GO:0032757

GO:0032760

GO:0032991

GO:0034162

GO:0034641

GO:0034655

GO:0035325

GO:0040011

GO:0042127

GO:0042742

GO:0042802

GO:0042832

GO:0043066

GO:0043123

GO:0043226

GO:0043621

GO:0045080

GO:0045087

GO:0046330

GO:0048661

GO:0048856

GO:0048870

GO:0050671

GO:0050727

GO:0050830

GO:0051092

GO:0060337

GO:0070498

GO:0070555

GO:0070935

GO:0070976

GO:0071222

GO:0071260

GO:0090557

GO:0140052

GO:1900017

GO:1902622

GO:2000338

GO:2000341

ILMN_1738523

PH_hs_0004695

TC03000187.hg

U70451_at

g1763090_3p_at

Participant Of

hasCandidate

MyD88 variants [cytosol]

Other forms of this molecule

MyD88 R196C [cytosol]

MyD88 E52del [cytosol]

MYD88 [cytosol]

MYD88 [plasma membrane]

MYD88 [cytosol]

MYD88 [endosome membrane]

MyD88 S34Y [cytosol]

MyD88 L93P [cytosol]

Modified Residues

Name

Deletion of residues 65 to 65

Cross References

RefSeq

NP_002459.2, NP_001166040.1, NP_001166039.1, NP_001166037.1

OpenTargets

ENSG00000172936

GeneCards

Q99836

HPA

ENSG00000172936-MYD88

Ensembl

ENSP00000391753, ENST00000650905, ENSP00000498360, ENSP00000379625, ENSG00000172936, ENST00000396334, ENST00000421516

PRO

Q99836

Orphanet

18435

PDB

4EO7, 2JS7, 4DOM, 3MOP, 2Z5V, 6I3N

Interactors (24)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q99836 MYD88	9	MyD88 E52del [cytosol] (R-HSA-5602451) MyD88 R196C [cytosol] (R-HSA-5602329) MYD88 [cytosol] (R-HSA-193946) MYD88 [plasma membrane] (R-HSA-937017) MYD88 [cytosol] (R-HSA-166059) MYD88 [endosome membrane] (R-HSA-975123) MyD88 E65del [cytosol] (R-HSA-5602598) MyD88 S34Y [cytosol] (R-HSA-5602521) MyD88 L93P [cytosol] (R-HSA-5602612)	0.958	40
UniProt:Q9NWZ3 IRAK4	9	IRAK4 Q293TER [cytosol] (R-HSA-5602426) IRAK4 R12C [cytosol] (R-HSA-5602511) IRAK4 E402TER [cytosol] (R-HSA-5602517) IRAK4 [endosome membrane] (R-HSA-975167) p-T342,T345,S346-IRAK4 [endosome membrane] (R-HSA-975149) p-T342,T345,S346-IRAK4 [cytosol] (R-HSA-446649) IRAK4 [plasma membrane] (R-HSA-937051) p-T342,T345,S346-IRAK4 [plasma membrane] (R-HSA-936957) IRAK4 [cytosol] (R-HSA-166081)	0.922	15
UniProt:P58753 TIRAP	2	p-4Y-TIRAP [plasma membrane] (R-HSA-2201321) TIRAP [cytosol] (R-HSA-166141)	0.819	8
UniProt:O43791 SPOP	1	SPOP [nucleoplasm] (R-HSA-5635035)	0.786	7
UniProt:O00206 TLR4	2	2xN4GlycoAsn-TLR4 [plasma membrane] (R-HSA-166045) TLR4 [endosome membrane] (R-HSA-2201285)	0.758	4
UniProt:O60603 TLR2	3	TLR2 [secretory granule membrane] (R-HSA-6804777) TLR2 [plasma membrane] (R-HSA-9637646) TLR2 [plasma membrane] (R-HSA-167992)	0.737	4
UniProt:O14836 TNFRSF13B	1	TAC1 [plasma membrane] (R-HSA-5668752)	0.692	12
UniProt:P51617 IRAK1	14	p-T209-IRAK1 [endosome membrane] (R-HSA-975189) K63polyUb-hp-IRAK1 [endosome membrane] (R-HSA-975112) p-T209,T387-IRAK1 [endosome membrane] (R-HSA-975117) IRAK1 [endosome membrane] (R-HSA-975127) p-2S,S376,T,T209,T387-IRAK1 [endosome membrane] (R-HSA-975157) p-S,T-IRAK1 [cytosol] (R-HSA-3149574) p-S376,T387-IRAK1 [cytosol] (R-HSA-446687) K63polyUb-hp-IRAK1 [cytosol] (R-HSA-451565) IRAK1 [plasma membrane] (R-HSA-937045) p-T209-IRAK1 [plasma membrane] (R-HSA-937031) p-T209,T387-IRAK1 [plasma membrane] (R-HSA-166279) p-2S,S376,T,T209,T387-IRAK1 [plasma membrane] (R-HSA-937011) IRAK1 [cytosol] (R-HSA-446639) p-2S,S376,T,T209,T387-IRAK1 [cytosol] (R-HSA-446682)	0.641	3
UniProt:Q6SZW1 SARM1			0.622	5
UniProt:P10599 TXN	4	TXN [nucleoplasm] (R-HSA-9617732) 2xHC-TXN [nucleoplasm] (R-HSA-9617733) 2xHC-TXN [cytosol] (R-HSA-73668) TXN [cytosol] (R-HSA-66000)	0.602	4
UniProt:Q8NF50 DOCK8	1	DOCK8 [cytosol] (R-HSA-1011619)	0.576	3
UniProt:Q13158 FADD	1	FADD [cytosol] (R-HSA-54639)	0.573	3
UniProt:P13682 ZNF35			0.556	3
UniProt:Q69FE3 Q69FE3			0.556	5
UniProt:P78317 RNF4	2	RNF4 [cytosol] (R-HSA-975974) RNF4 [nucleoplasm] (R-HSA-5684076)	0.556	3
UniProt:P38340 NTM1			0.556	3
UniProt:Q96HA8 NTAQ1			0.556	3
UniProt:Q6IQ16 SPOPL	1	SPOPL [nucleoplasm] (R-HSA-5635036)	0.556	3
UniProt:Q8IUQ4 SIAH1	1	SIAH1 [cytosol] (R-HSA-374563)	0.543	3
UniProt:P84022 SMAD3	21	p-S423,S425-SMAD3 D258N [cytosol] (R-HSA-3315470) Ub-SMAD3 [cytosol] (R-HSA-6782830) p-S423,S425-SMAD3 R268C [cytosol] (R-HSA-3315075) p-S423,S425-SMAD3 R268H [cytosol] (R-HSA-3315080) SMAD3 Q316* [cytosol] (R-HSA-9668765) SMAD3 Y384* [cytosol] (R-HSA-9668782) SMAD3 W326* [cytosol] (R-HSA-9668766) SMAD3 E246* [cytosol] (R-HSA-9668776) SMAD3 Q358* [cytosol] (R-HSA-9668772) SMAD3 Q322* [cytosol] (R-HSA-9668773) SMAD3 S425F [cytosol] (R-HSA-8944158) SMAD3 E383* [cytosol] (R-HSA-9668775) SMAD3 R368* [cytosol] (R-HSA-9668768) SMAD3 Y298* [cytosol] (R-HSA-9668769) SMAD3 S425C [cytosol] (R-HSA-3308499) 2xADPRib-p-S423,S425-SMAD3 [nucleoplasm] (R-HSA-2187326) p-T179,S423,S425-SMAD3 [nucleoplasm] (R-HSA-2176471) SMAD3 [nucleoplasm] (R-HSA-206150) SMAD3 [cytosol] (R-HSA-170855) p-S423,S425-SMAD3 [nucleoplasm] (R-HSA-177104) p-S423,S425-SMAD3 [cytosol] (R-HSA-171184)	0.543	3
UniProt:Q93009 USP7	2	USP7 [nucleoplasm] (R-HSA-3215278) USP7 [cytosol] (R-HSA-8853511)	0.543	3
UniProt:Q9UGK3 STAP2	2	STAP2 [cytosol] (R-HSA-8848028) p-Y250-STAP2 [plasma membrane] (R-HSA-8848079)	0.524	3
UniProt:Q9UBN7 HDAC6	5	HDAC6 [late endosome lumen] (R-HSA-9659980) HDAC6 [nucleoplasm] (R-HSA-351589) HDAC6 [cytosol] (R-HSA-5324660) HDAC6 [cytosol] (R-HSA-9646404) HDAC6 [lysosomal lumen] (R-HSA-9660002)	0.524	6
UniProt:Q15109 AGER	1	AGER [plasma membrane] (R-HSA-197639)	0.462	8

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