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; GeneCards: UNC93B1
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
Databases	NCBI: entry; OMA: entry
	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.

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.

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000110057 – Ensembl, May 2017
1 2 3 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.
1 2 "Entrez Gene: UNC93B1 unc-93 homolog B1 (C. elegans)".
↑ Kashuba VI, Protopopov AI, Kvasha SM, Gizatullin RZ, Wahlestedt C, Kisselev LL, et al. (January 2002). "hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein". Gene. 283 (1–2): 209–217. doi:10.1016/S0378-1119(01)00856-3. PMID 11867227.
↑ Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, et al. (October 2006). "Herpes simplex virus encephalitis in human UNC-93B deficiency". Science. 314 (5797). New York, N.Y.: 308–312. doi:10.1126/science.1128346. PMID 16973841.

Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–113. 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 Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, et al. (April 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–358. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Arnlöv J, Sundström J, Lind L, Andrén B, Andersson M, Reneland R, et al. (October 2005). "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". European Journal of Heart Failure. 7 (6): 958–965. doi:10.1016/j.ejheart.2004.06.009. PMID 16111919. S2CID 22339419.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000110057 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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] 1 2 "Entrez Gene: UNC93B1 unc-93 homolog B1 (C. elegans)".

[Kashuba_2002-6] Kashuba VI, Protopopov AI, Kvasha SM, Gizatullin RZ, Wahlestedt C, Kisselev LL, et al. (January 2002). "hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein". Gene. 283 (1–2): 209–217. doi:10.1016/S0378-1119(01)00856-3. PMID 11867227.

[7] Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, et al. (October 2006). "Herpes simplex virus encephalitis in human UNC-93B deficiency". Science. 314 (5797). New York, N.Y.: 308–312. doi:10.1126/science.1128346. PMID 16973841.

UNC93B1

Function

References

Further reading