UNC93B1 L230Afs*188 [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-9628869
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
unc-93 homolog B1 L230Afs*188
UNC93B1 L230Afs*188 [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
General
Substitution 781G>A in the coding sequence affects the last nucleotide of exon 6 of UNC93B1 gene causing the exon 6 to be spliced out. This causes a frameshift in the resulting mis-spliced transcript, starting with the first codon of exon 7 (amino acid position 230) that is erroneously spliced to exon 5, so that a premature stop codon is encountered in exon 9.
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
Gene Names
UNC93B1, UNC93, UNC93B
Chain
chain:1-597
Reference Transcript
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
3037682
3339081
3339082
3339084
3379132
3379270
3379271
3379272
3379273
3379276
3379277
3379280
3379282
3379285
3379286
3379290
3379291
3379292
3379294
3379296
3379297
3379298
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:0005794
GO:0006886
GO:0016020
GO:0019882
GO:0019886
GO:0023052
GO:0031410
GO:0032009
GO:0032735
GO:0032755
GO:0034138
GO:0034154
GO:0034162
GO:0035325
GO:0043226
GO:0045087
GO:0045335
GO:0048856
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
Other forms of this molecule
Modified Residues
Name
Replacement of residues 230 to 416 by APTATGSSAASTRRFCGRSRGAETSLWWRACSWQWPSWPCCWCWVCAEPLTGPRRRSICAAWAGATSSSCPSSTCVTTACATSCLSLSTAASRCSLPALVSPWAMACARWGWSGWLTSSWLTAWAPQPPHSWACWACGCHARCPWWPEQGCTCCSPSSSFSGPLCLGSCNTAGSSMWQLPFGVWAVP
Disease
Name Identifier Synonyms
primary immunodeficiency disease DOID:612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Pharos - Targets
Orphanet
PDB
Interactors (37)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P37268 FDFT1  1 0.643 3
 UniProt:Q9NR97 TLR8  4 0.602 4
 UniProt:Q9H7V2 SYNG1      0.556 3
 UniProt:Q5T700 LRAD1      0.556 3
 UniProt:P11912 CD79A  2 0.556 3
 UniProt:Q9GZY8-5 MFF      0.556 3
 UniProt:Q8WWF3 SSMM1      0.556 3
 UniProt:Q9NZD1 GPC5D      0.556 3
 UniProt:Q9NQQ7-3 Q9NQQ73      0.556 3
 UniProt:Q9Y282 ERGI3      0.556 3
 UniProt:Q9H400 LIME1      0.556 3
 UniProt:Q8WV48 CC107      0.556 3
 UniProt:Q96BA8 CREB3L1  7 0.556 3
 IntAct:EBI-23184686 CCSB ORF ID      0.556 3
 UniProt:O95471 CLDN7  2 0.556 3
 UniProt:O60883 GPR37L1  1 0.556 3
 UniProt:A8MZ59 LEUTX  1 0.556 3
 UniProt:Q15125 EBP  1 0.556 3
 UniProt:P26715 KLRC1  1 0.556 3
 UniProt:O14843 FFAR3  1 0.556 3
 UniProt:Q9UM44 HHLA2      0.556 3
 UniProt:Q8NFU1 BEST2  1 0.556 3
 UniProt:Q969F0 FATE1      0.556 3
 UniProt:Q96Q45-2 TMEM237      0.556 3
 UniProt:Q9H902 REEP1  1 0.556 3
 UniProt:Q96P66 GP101      0.556 3
 UniProt:Q96CE8 T4S18      0.556 3
 UniProt:Q9GZM5 YIPF3      0.527 2
 UniProt:Q96AQ6 PBIP1      0.527 2
 UniProt:P18859 ATP5PF  1 0.527 2
 UniProt:P36542 ATP5F1C  1 0.527 2
 UniProt:O95831 AIFM1      0.527 2
 UniProt:Q96ER3 SAAL1      0.527 2
 UniProt:P24539 ATP5PB  1 0.527 2
 UniProt:P55060 XPO2      0.499 2
 UniProt:P0DTD8 NS7B      0.499 2
 UniProt:Q14974 KPNB1  5 0.499 2
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