Reactome | UNC93B1 P345Pfs*103 [endoplasmic reticulum membrane]

UNC93B1 P345Pfs*103 [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-9628866

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Unc93 homolog B1 P345Pfs*103

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General

P345fs* corresponds to 1034del4 in the coding region of UNC93B1 gene

Literature References

PubMed ID	Title	Journal	Year
16973841	Herpes simplex virus encephalitis in human UNC-93B deficiency Beutler, B, Abel, L, Alcais, A, Dulac, O, Lebon, P, Lorenzo, L, Plancoulaine, S, Du, X, Nicolas, N, Rozenberg, F, Sénéchal, B, Miller, RL, Tabeta, K, Geissmann, F, Casrouge, A, Héron, B, Yang, K, Jouanguy, E, de Villemeur, TB, Puel, A, Picard, C, Eidenschenk, C, Mignot, C, Zhang, SY, Hoebe, K, Mahfoufi, N, Casanova, JL, Tardieu, M	Science	2006

External Reference Information

External Reference

UniProt:Q9H1C4 UNC93B1

Gene Names

UNC93B1, UNC93, UNC93B

Chain

chain:1-597

Reference Genes

BioGPS Gene:81622 UNC93B1

COSMIC (genes):UNC93B1 UNC93B1

CTD Gene:81622 UNC93B1

dbSNP Gene:81622 UNC93B1

ENSEMBL:ENSG00000110057 UNC93B1

HGNC:13481 UNC93B1

KEGG:hsa:81622 UNC93B1

Monarch:81622 UNC93B1

NCBI Gene:81622 UNC93B1

OMIM:608204 UNC93B1

UCSC:Q9H1C4 UNC93B1

Reference Transcript

RefSeq:NM_030930.3 UNC93B1

Other Identifiers

11721322_at

16741173

17100833

220998_PM_s_at

220998_s_at

225869_PM_s_at

225869_s_at

2683250

2683252

2718105

2718108

2718113

2758606

2758607

2758608

2758633

2758635

2758636

3037672

3037673

3037674

3037675

3037678

3037682

3339081

3339082

3339084

3379132

3379270

3379271

3379272

3379273

3379276

3379277

3379278

3379279

3379280

3379281

3379282

3379283

3379284

3379285

3379286

3379287

3379288

3379289

3379290

3379291

3379292

3379293

3379294

3379295

3379296

3379297

3379298

3379299

49533_at

78054_at

7949904

8094144

8138147

81622

A_23_P98167

A_33_P3262758

GE61081

GO:0000139

GO:0000902

GO:0002224

GO:0002250

GO:0002376

GO:0002457

GO:0005515

GO:0005764

GO:0005768

GO:0005773

GO:0005783

GO:0005789

GO:0006886

GO:0016020

GO:0019882

GO:0019886

GO:0031410

GO:0032009

GO:0032735

GO:0032755

GO:0034138

GO:0034154

GO:0034162

GO:0035325

GO:0043226

GO:0045087

GO:0045335

GO:0051607

GO:0098542

HMNXSV003014560

Hs.135187.1.A1_3p_s_at

ILMN_1654812

ILMN_2193591

PH_hs_0027846

TC11001999.hg

g13569892_3p_s_at

Participates

as a member of

UNC93B1 variants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

UNC93B1 [Golgi membrane]

UNC93B1 [endoplasmic reticulum membrane]

UNC93B1 L230Afs*188 [endoplasmic reticulum membrane]

Modified Residues

Name

Replacement of residues 345 to 446 by PLSTAASRCSLPALVSPWAMACARWGWSGWLTSSWLTAWAPQPPHSWACWACGCHARCPWWPEQGCTCCSPSSSFSGPLCLGSCNTAGSSMWQLPFGVWAVP

Disease

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

Cross References

RefSeq

NP_112192.2

OpenTargets

ENSG00000110057

ENSEMBL

ENSP00000227471, ENST00000227471

HPA

ENSG00000110057-UNC93B1

PRO

Q9H1C4

Pharos - Targets

Q9H1C4

GlyGen

Q9H1C4

Orphanet

UNC93B1

PDB

7CYN, 7C76

Interactors (37)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P37268 FDFT1	1	FDFT1 [endoplasmic reticulum membrane] (R-HSA-191369)	0.643	3
UniProt:Q9NR97 TLR8	4	TLR8 [endosome membrane] (R-HSA-1679577) TLR8 [Golgi membrane] (R-HSA-1678918) TLR8 [endolysosome membrane] (R-HSA-167927) TLR8 [endoplasmic reticulum membrane] (R-HSA-1678947)	0.602	4
UniProt:P26715 KLRC1	1	KLRC1 [plasma membrane] (R-HSA-3006545)	0.556	3
UniProt:O14843 FFAR3	1	FFAR3 [plasma membrane] (R-HSA-443951)	0.556	3
UniProt:Q9H902 REEP1	1	REEP1 [endoplasmic reticulum membrane] (R-HSA-8939766)	0.556	3
UniProt:Q15125 EBP	1	EBP [endoplasmic reticulum membrane] (R-HSA-195697)	0.556	3
UniProt:O60883 GPR37L1	1	GPR37L1 [plasma membrane] (R-HSA-5336178)	0.556	3
UniProt:A8MZ59 LEUTX	1	LEUTX [nucleoplasm] (R-HSA-9817277)	0.556	3
UniProt:Q96BA8 CREB3L1	7	CREB3L1 [Golgi membrane] (R-HSA-8874155) CREB3L1(427-519) [Golgi membrane] (R-HSA-8874139) CREB3L1(1-426) [Golgi membrane] (R-HSA-8874153) CREB3L1 [endoplasmic reticulum membrane] (R-HSA-8874157) CREB3L1(1-375) [cytosol] (R-HSA-8874215) CREB3L1(376-426) [Golgi membrane] (R-HSA-8874213) CREB3L1(1-375) [nucleoplasm] (R-HSA-8874222)	0.556	3
UniProt:Q9UM44 HHLA2			0.556	3
UniProt:Q8NFU1 BEST2	1	BEST2 [plasma membrane] (R-HSA-2744359)	0.556	3
UniProt:Q969F0 FATE1			0.556	3
UniProt:Q96Q45-2 TMEM237			0.556	3
UniProt:Q96P66 GP101			0.556	3
UniProt:Q96CE8 T4S18			0.556	3
UniProt:O95471 CLDN7	2	CLDN7 [plasma membrane] (R-HSA-420004) CLDN7 [cell junction] (R-HSA-421241)	0.556	3
IntAct:EBI-23184686 CCSB ORF ID			0.556	3
UniProt:Q8WV48 CC107			0.556	3
UniProt:Q9H400 LIME1			0.556	3
UniProt:Q9Y282 ERGI3			0.556	3
UniProt:Q9NQQ7-3 Q9NQQ73			0.556	3
UniProt:Q9NZD1 GPC5D			0.556	3
UniProt:Q8WWF3 SSMM1			0.556	3
UniProt:Q9GZY8-5 MFF			0.556	3
UniProt:P11912 CD79A	2	p-Y188,Y199-CD79A [plasma membrane] (R-HSA-983539) CD79A [plasma membrane] (R-HSA-197154)	0.556	3
UniProt:Q5T700 LRAD1			0.556	3
UniProt:Q9H7V2 SYNG1			0.556	3
UniProt:P24539 ATP5PB	1	ATP5PB [mitochondrial inner membrane] (R-HSA-164537)	0.527	2
UniProt:Q96ER3 SAAL1			0.527	2
UniProt:O95831 AIFM1			0.527	2
UniProt:P36542 ATP5F1C	1	ATP5F1C [mitochondrial matrix] (R-HSA-164577)	0.527	2
UniProt:P18859 ATP5PF	1	ATP5PF [mitochondrial inner membrane] (R-HSA-164532)	0.527	2
UniProt:Q96AQ6 PBIP1			0.527	2
UniProt:Q9GZM5 YIPF3			0.527	2
UniProt:Q14974 KPNB1	5	KPNB1 [cytosol] (R-HSA-180733) KPNB1 [nucleoplasm] (R-HSA-180714) KPNB1 [specific granule lumen] (R-HSA-6799646) KPNB1 [extracellular region] (R-HSA-6806306) KPNB1 [ficolin-1-rich granule lumen] (R-HSA-6800978)	0.499	2
UniProt:P0DTD8 NS7B			0.499	2
UniProt:P55060 XPO2			0.499	2