UNC93B1

UNC93B1
Identifiers
Aliases	UNC93B1, IIAE1, UNC93, UNC93B, Unc-93B1, unc-93 homolog B1 (C. elegans), unc-93 homolog B1, TLR signaling regulator
External IDs	OMIM: 608204; MGI: 1859307; HomoloGene: 41325; GeneCards: UNC93B1; OMA:UNC93B1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	68,004,982 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	3,999,340 bp
RNA expression pattern
	Top expressed in
	granulocyte; ; monocyte; ; olfactory zone of nasal mucosa; ; spleen; ; bone marrow cell; ; appendix; ; right lung; ; right uterine tube; ; upper lobe of left lung; ; minor salivary glands;
	Top expressed in
	granulocyte; ; stroma of bone marrow; ; mesenteric lymph nodes; ; spleen; ; tibiofemoral joint; ; calvaria; ; ankle joint; ; ankle; ; submandibular gland; ; subcutaneous adipose tissue;
	More reference expression data
	n/a
Gene ontology
Molecular function	Toll-like receptor binding;
Cellular component	integral component of membrane; early phagosome; Golgi membrane; endosome; lysosome; phagocytic vesicle; endoplasmic reticulum membrane; endoplasmic reticulum; membrane; cytoplasmic vesicle;
Biological process	toll-like receptor 9 signaling pathway; intracellular protein transport; toll-like receptor 3 signaling pathway; adaptive immune response; defense response to virus; toll-like receptor 7 signaling pathway; toll-like receptor signaling pathway; immune system process; innate immune response;
	Sources:Amigo / QuickGO
Orthologs
	81622
	54445
	ENSG00000110057
	ENSMUSG00000036908
	Q9H1C4
	Q8VCW4
	NM_030930
	NM_001161428; NM_019449
	NP_112192
	NP_001154900; NP_062322
	Wikidata
View/Edit Human	View/Edit Mouse

Unc-93 homolog B1 (C. elegans), also known as UNC93B1, is a protein which in humans is encoded by the UNC93B1 gene.⁵⁶

Function

This gene encodes a protein with similarity to the Caenorhabditis elegans unc93 protein. The Unc93 protein is involved in the regulation or coordination of muscle contraction in the worm.⁵

In humans, UNC93B1 is involved in interferon production. Mutations in UNC93B1 have been associated with an innate immune defect that increases susceptibility to encephalitis caused by herpes simplex virus.⁷

References

GRCh38: Ensembl release 89: ENSG00000110057 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000036908 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: UNC93B1 unc-93 homolog B1 (C. elegans)".
Kashuba VI, Protopopov AI, Kvasha SM, Gizatullin RZ, Wahlestedt C, Kisselev LL, Klein G, Zabarovsky ER (January 2002). "hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein". Gene. 283 (1–2): 209–17. doi:10.1016/S0378-1119(01)00856-3. PMID 11867227.
Casrouge, Armanda; Zhang, Shen-Ying; Eidenschenk, Céline; Jouanguy, Emmanuelle; Puel, Anne; Yang, Kun; Alcais, Alexandre; Picard, Capucine; Mahfoufi, Nora; Nicolas, Nathalie; Lorenzo, Lazaro; Plancoulaine, Sabine; Sénéchal, Brigitte; Geissmann, Frédéric; Tabeta, Koichi (2006-10-13). "Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency". Science. 314 (5797): 308–312. doi:10.1126/science.1128346. ISSN 0036-8075.

Further reading

Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Kashuba VI, Protopopov AI, Kvasha SM, et al. (2002). "hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein". Gene. 283 (1–2): 209–17. doi:10.1016/S0378-1119(01)00856-3. PMID 11867227.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Arnlöv J, Sundström J, Lind L, et al. (2006). "hUNC-93B1, a novel gene mainly expressed in the heart, is related to left ventricular diastolic function, heart failure morbidity and mortality in elderly men". Eur. J. Heart Fail. 7 (6): 958–65. doi:10.1016/j.ejheart.2004.06.009. PMID 16111919. S2CID 22339419.
Taylor TD, Noguchi H, Totoki Y, et al. (2006). "Human chromosome 11 DNA sequence and analysis including novel gene identification". Nature. 440 (7083): 497–500. Bibcode:2006Natur.440..497T. doi:10.1038/nature04632. PMID 16554811.
Casrouge A, Zhang SY, Eidenschenk C, et al. (2006). "Herpes simplex virus encephalitis in human UNC-93B deficiency". Science. 314 (5797): 308–12. Bibcode:2006Sci...314..308C. doi:10.1126/science.1128346. PMID 16973841. S2CID 12501759.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000110057 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036908 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: UNC93B1 unc-93 homolog B1 (C. elegans)".

[pmid11867227-6] Kashuba VI, Protopopov AI, Kvasha SM, Gizatullin RZ, Wahlestedt C, Kisselev LL, Klein G, Zabarovsky ER (January 2002). "hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein". Gene. 283 (1–2): 209–17. doi:10.1016/S0378-1119(01)00856-3. PMID 11867227.

[7] Casrouge, Armanda; Zhang, Shen-Ying; Eidenschenk, Céline; Jouanguy, Emmanuelle; Puel, Anne; Yang, Kun; Alcais, Alexandre; Picard, Capucine; Mahfoufi, Nora; Nicolas, Nathalie; Lorenzo, Lazaro; Plancoulaine, Sabine; Sénéchal, Brigitte; Geissmann, Frédéric; Tabeta, Koichi (2006-10-13). "Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency". Science. 314 (5797): 308–312. doi:10.1126/science.1128346. ISSN 0036-8075.

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