UNC93B1 (unc-93B1 regulator of TLR signaling)

Gene

• Entrez ID: 81622
• Gene name: Unc-93B1 regulator of TLR signaling
• Gene symbol: UNC93B1
• Synonyms (NCBI Gene): IIAE1, UNC-93B, UNC93, UNC93B, Unc-93B1
• Chromosome: 11
• Chromosome location: 11q13.2
• Summary: This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficie

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs780094017	C>A,G,T	Risk-factor	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001323	hsa-miR-1-3p	pSILAC	18668040
MIRT018906	hsa-miR-335-5p	Microarray	18185580
MIRT001323	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT030095	hsa-miR-26b-5p	Microarray	19088304
MIRT1475707	hsa-miR-151-5p	CLIP-seq
MIRT1475708	hsa-miR-2277-3p	CLIP-seq
MIRT1475709	hsa-miR-2277-5p	CLIP-seq
MIRT1475710	hsa-miR-615-5p	CLIP-seq
MIRT2143359	hsa-miR-106a	CLIP-seq
MIRT2143360	hsa-miR-106b	CLIP-seq
MIRT2143361	hsa-miR-17	CLIP-seq
MIRT2143362	hsa-miR-19a	CLIP-seq
MIRT2143363	hsa-miR-19b	CLIP-seq
MIRT2143364	hsa-miR-20a	CLIP-seq
MIRT2143365	hsa-miR-20b	CLIP-seq
MIRT2143366	hsa-miR-3186-3p	CLIP-seq
MIRT2143367	hsa-miR-342-3p	CLIP-seq
MIRT2143368	hsa-miR-3689d	CLIP-seq
MIRT2143369	hsa-miR-4266	CLIP-seq
MIRT2143370	hsa-miR-4292	CLIP-seq
MIRT2143371	hsa-miR-4450	CLIP-seq
MIRT2143372	hsa-miR-4667-5p	CLIP-seq
MIRT2143373	hsa-miR-4695-5p	CLIP-seq
MIRT2143374	hsa-miR-4700-5p	CLIP-seq
MIRT2143375	hsa-miR-4725-5p	CLIP-seq
MIRT2143376	hsa-miR-504	CLIP-seq
MIRT2143377	hsa-miR-518a-5p	CLIP-seq
MIRT2143378	hsa-miR-519d	CLIP-seq
MIRT2143379	hsa-miR-520g	CLIP-seq
MIRT2143380	hsa-miR-520h	CLIP-seq
MIRT2143381	hsa-miR-527	CLIP-seq
MIRT2143382	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0000902	Process	Cell morphogenesis	IEA
GO:0002224	Process	Toll-like receptor signaling pathway	IEA
GO:0002224	Process	Toll-like receptor signaling pathway	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002457	Process	T cell antigen processing and presentation	IEA
GO:0005515	Function	Protein binding	IPI	22164301, 30833792, 32296183, 33845483, 33961781
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IDA	21642595
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	18082565, 21642595
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032009	Component	Early phagosome	IEA
GO:0032009	Component	Early phagosome	ISS
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IBA
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IEA
GO:0034138	Process	Toll-like receptor 3 signaling pathway	IMP	18082565
GO:0034154	Process	Toll-like receptor 7 signaling pathway	IBA
GO:0034154	Process	Toll-like receptor 7 signaling pathway	IEA
GO:0034154	Process	Toll-like receptor 7 signaling pathway	IMP	19006693
GO:0034162	Process	Toll-like receptor 9 signaling pathway	IBA
GO:0034162	Process	Toll-like receptor 9 signaling pathway	IEA
GO:0034162	Process	Toll-like receptor 9 signaling pathway	IMP	19006693
GO:0034162	Process	Toll-like receptor 9 signaling pathway	ISS
GO:0035325	Function	Toll-like receptor binding	IBA
GO:0035325	Function	Toll-like receptor binding	IEA
GO:0035325	Function	Toll-like receptor binding	IPI	33432245
GO:0045087	Process	Innate immune response	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0051607	Process	Defense response to virus	IEA

Other IDs

• MIM: 608204
• HGNC: 13481
• e!Ensembl: ENSG00000110057

Protein

• UniProt ID: Q9H1C4
• Protein name: Protein unc-93 homolog B1 (Unc-93B1) (hUNC93B1)
• Protein function: Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolys
• PDB: 7C76, 7CYN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05978	UNC-93	115 → 194	Ion channel regulatory protein UNC-93	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in plasmocytoid dendritic cells (at protein level). Highly expressed in antigen-presenting cells. Expressed in heart, and at lower level in kidney. Expressed at low level in other tissues. {ECO:0000269|PubMed:11867227, ECO:00
• Sequence:

  MEAEPPLYPMAGAAGPQGDEDLLGVPDGPEAPLDELVGAYPNYNEEEEERRYYRRKRLGV
  LKNVLAASAGGMLTYGVYLGLLQMQLILHYDETYREVKYGNMGLPDIDSKMLMGINVTPI
  AALLYTPVLIRFFGTKWMMFLAVGIYALFVSTNYWERYYTLVPSAVALGMAIVPLWASMG
  NYITRMAQKYHEYSHYKEQDGQGMKQRPPRGSHAPYLLVFQAIFYSFFHLSFACAQLPMI
  YFLNHYLYDLNHTLYNVQSCGTNSHGILSGFNKTVLRTLPRSGNLIVVESVLMAVAFLAM
  LLVLGLCGAAYRPTEEIDLRSVGWGNIFQLPFKHVRDYRLRHLVPFFIYSGFEVLFACTG
  IALGYGVCSVGLERLAYLLVAYSLGASAASLLGLLGLWLPRPVPLVAGAGVHLLLTFILF
  FWAPVPRVLQHSWILYVAAALWGVGSALNKTGLSTLLGILYEDKERQDFIFTIYHWWQAV
  AIFTVYLGSSLHMKAKLAVLLVTLVAAAVSYLRMEQKLRRGVAPRQPRIPRPQHKVRGYR
  YLEEDNSDESDAEGEHGDGAEEEAPPAGPRPGPEPAGLGRRPCPYEQAQGGDGPEEQ

• Sequence length: 597

Pathways

Reactome:

Trafficking and processing of endosomal TLR
UNC93B1 deficiency - HSE

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Herpes simplex encephalitis, susceptibility to, 1	Pathogenic; Likely pathogenic	rs772974041, rs759883057, rs753436679, rs2495497804, rs1167385983, rs2495478605, rs1462011435	RCV001936981 RCV001981297 RCV001935122 RCV002815127 RCV002858660 RCV003498856 RCV003498975

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial cancer of breast	Likely benign	rs146648117	RCV005932998
Gastric cancer	Uncertain significance	rs2495486126	RCV005928587
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs146648117	RCV005933000
Malignant tumor of esophagus	Likely benign	rs146648117	RCV005932999
Ovarian serous cystadenocarcinoma	Likely benign	rs146648117	RCV005933002
Sarcoma	Likely benign	rs146648117	RCV005933001
UNC93B1-related disorder	Likely benign; Benign	rs768584550, rs188940236, rs539458551	RCV003936513 RCV003930477 RCV003960784
Uterine carcinosarcoma	Likely benign	rs146648117	RCV005933003
Uterine corpus endometrial carcinoma	Likely benign	rs146648117	RCV005933004

Associations from Text Mining
Disease Name	Relationship Type	References
Autoimmune Diseases	Associate	34440442
Carcinoma Ovarian Epithelial	Associate	12381271
Coronary Artery Disease	Associate	31355260
Encephalitis	Associate	37097753
Encephalitis Herpes Simplex	Associate	21722947, 22105173, 23103873, 23434283
Fractures Bone	Associate	32827035
Graves Disease	Associate	28013570
Hashimoto Disease	Associate	28013570
Heart Failure	Stimulate	31355260
Herpes Simplex	Associate	37097753
Inflammation	Associate	33627833
Macular Degeneration	Associate	29852030
Osteoporosis	Associate	32827035
Tuberculosis Meningeal	Associate	32827035