UNC93B1 P345fs* [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-9628866
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Unc93 homolog B1 P345fs*
Locations in the PathwayBrowser
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

Casrouge, A, Zhang, SY, Eidenschenk, C, Jouanguy, E, Puel, A, Yang, K, Alcais, A, Picard, C, Mahfoufi, N, Nicolas, N, Lorenzo, L, Plancoulaine, S, Sénéchal, B, Geissmann, F, Tabeta, K, Hoebe, K, Du, X, Miller, RL, Héron, B, Mignot, C, de Villemeur, TB, Lebon, P, Dulac, O, Rozenberg, F, Beutler, B, Tardieu, M, Abel, L, Casanova, JL

Science 2006
External Reference Information
External Reference
Gene Names
UNC93B1, UNC93, UNC93B
Chain
chain:1-597
Reference Transcript
Other Identifiers
0000130039
11721322_at
16741173
17100833
220998_s_at
225869_s_at
2683250
2683252
2718105
2718108
2718113
2758606
2758607
2758608
2758633
2758635
2758636
3037672
3037673
3037682
3339081
3339082
3339084
3379132
3379270
3379271
3379272
3379273
3379276
3379277
3379280
3379282
3379285
3379286
3379290
3379291
3379292
3379294
3379296
3379297
3379298
38716
38717
42803
49533_at
78054_at
7949904
8094144
8138147
81622
A_23_P98167
A_33_P3262758
AAD15416
AAH92472
AAI01569
AAI05105
AC004923
AJ271326
AJ422142
BC092472
BC101568
BC105104
CAC19791
CAD19522
CCDS73334
E9PNE5
E9PR93
ENSG00000110057
ENSP00000227471
ENST00000227471
ENST00000227471.6
EntrezGene:81622
EntrezGene:UNC93B1
g13569892_3p_s_at
GE61081
GO:0000139
GO:0002224
GO:0002250
GO:0002376
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005768
GO:0005773
GO:0005783
GO:0005789
GO:0005794
GO:0006810
GO:0006886
GO:0006950
GO:0007165
GO:0008150
GO:0016020
GO:0016021
GO:0031410
GO:0032009
GO:0034138
GO:0034154
GO:0034162
GO:0035325
GO:0043226
GO:0045087
GO:0045335
GO:0051607
HGNC:13481
HPA038716
HPA038717
HPA042803
Hs.135187.1.A1_3p_s_at
ILMN_1654812
ILMN_2193591
IPR010291
LRG_123
MIM:608204
MIM:610551
NM_030930
NP_112192
PF05978
PH_hs_0027846
TC11001999.hg
UNC93B1
UNC93B1-201
UPI000034ECF5
XM_011545290
XM_011545291
XP_011543592
XP_011543593
Participant Of
Other forms of this molecule
Modified Residues
Name
L-proline 345 replaced with unknown
Coordinate
345
PsiMod
A protein modification that effectively removes or replaces an L-proline.
Disease
Name Identifier Synonyms
primary immunodeficiency disease 612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
Interactors (28)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P37268 FDFT1  1 0.527 2
 UniProt:Q14974 KPNB1  5 0.499 2
 UniProt:P55060 XPO2      0.499 2
 UniProt:Q9H7V2 SYNG1      0.488 2
 UniProt:Q5T700 LRAD1      0.488 2
 UniProt:P11912 CD79A  2 0.488 2
 UniProt:Q15125 EBP  1 0.488 2
 UniProt:P26715 KLRC1  1 0.488 2
 UniProt:O60883 GPR37L1  1 0.488 2
 UniProt:O14843 FFAR3  1 0.488 2
 UniProt:Q9UM44 HHLA2      0.488 2
 UniProt:Q8NFU1 BEST2  1 0.488 2
 UniProt:Q969F0 FATE1      0.488 2
 UniProt:Q96Q45-2 TMEM237      0.488 2
 UniProt:Q9H902 REEP1  1 0.488 2
 UniProt:Q96P66 GP101      0.488 2
 UniProt:Q96CE8 T4S18      0.488 2
 UniProt:O95471 CLDN7  2 0.488 2
 UniProt:Q96BA8 CREB3L1  7 0.488 2
 UniProt:Q8WV48 CC107      0.488 2
 UniProt:Q9H400 LIME1      0.488 2
 UniProt:Q9Y282 ERGI3      0.488 2
 IntAct:EBI-12816227 SLC16A2      0.488 2
 UniProt:Q9NQQ7-3 Q9NQQ73      0.488 2
 UniProt:Q9NZD1 GPC5D      0.488 2
 UniProt:A8MZ59 LEUTX      0.488 2
 UniProt:Q9GZY8-5 MFF      0.488 2
 UniProt:Q9NR97 TLR8  4 0.463 3