• Gene id: 81622

Gene Summary

• Gene Symbol: UNC93B1   Gene   UCSC   Ensembl
• Aliases: IIAE1, UNC93, UNC93B, Unc-93B1
• Gene name: unc-93 homolog B1, TLR signaling regulator
• Alternate names: protein unc-93 homolog B1, unc-93 homolog B1, unc-93 related protein, unc93 homolog B1,
• Gene location: 11q13.2 (68004096: 67991099)     Exons: 11     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 611914

Protein Summary

• Protein general information: Q9H1C4  
  • Name: Protein unc 93 homolog B1 (Unc 93B1) (hUNC93B1)
  • Length: 597  
  • Mass: 66631
  • 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
• Sequence:

  MEAEPPLYPMAGAAGPQGDEDLLGVPDGPEAPLDELVGAYPNYNEEEEERRYYRRKRLGVLKNVLAASAGGMLTY
  GVYLGLLQMQLILHYDETYREVKYGNMGLPDIDSKMLMGINVTPIAALLYTPVLIRFFGTKWMMFLAVGIYALFV
  STNYWERYYTLVPSAVALGMAIVPLWASMGNYITRMAQKYHEYSHYKEQDGQGMKQRPPRGSHAPYLLVFQAIFY
  SFFHLSFACAQLPMIYFLNHYLYDLNHTLYNVQSCGTNSHGILSGFNKTVLRTLPRSGNLIVVESVLMAVAFLAM
  LLVLGLCGAAYRPTEEIDLRSVGWGNIFQLPFKHVRDYRLRHLVPFFIYSGFEVLFACTGIALGYGVCSVGLERL
  AYLLVAYSLGASAASLLGLLGLWLPRPVPLVAGAGVHLLLTFILFFWAPVPRVLQHSWILYVAAALWGVGSALNK
  TGLSTLLGILYEDKERQDFIFTIYHWWQAVAIFTVYLGSSLHMKAKLAVLLVTLVAAAVSYLRMEQKLRRGVAPR
  QPRIPRPQHKVRGYRYLEEDNSDESDAEGEHGDGAEEEAPPAGPRPGPEPAGLGRRPCPYEQAQGGDGPEEQ

• Structural information:
  • Interpro: IPR010291  
  • STRING: ENSP00000227471
• Other Databases: GeneCards:  UNC93B1  Malacards:  UNC93B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IBA	cellular component
GO:0005768	endosome	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0034138	toll-like receptor 3 signaling pathway	IBA	biological process
GO:0034154	toll-like receptor 7 signaling pathway	IBA	biological process
GO:0034162	toll-like receptor 9 signaling pathway	IBA	biological process
GO:0035325	Toll-like receptor binding	IBA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0032009	early phagosome	ISS	cellular component
GO:0005768	endosome	ISS	cellular component
GO:0005764	lysosome	ISS	cellular component
GO:0034162	toll-like receptor 9 signaling pathway	IMP	biological process
GO:0034154	toll-like receptor 7 signaling pathway	IMP	biological process
GO:0034138	toll-like receptor 3 signaling pathway	IMP	biological process
GO:0006886	intracellular protein transport	ISS	biological process
GO:0002224	toll-like receptor signaling pathway	IEA	biological process
GO:0035325	Toll-like receptor binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0051607	defense response to virus	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0002224	toll-like receptor signaling pathway	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq