UNC93B1 - unc-93 homolog B1, TLR signaling regulator Gene

Homo sapiens

Also known as IIAE1; UNC93; UNC93B; Unc-93B1

Gene ID: 81622 | Gene type: protein coding

About UNC93B1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,991,100-68,004,097 (from NCBI)

This gene has 9 transcripts (splice variants), 223 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in spleen (RPKM 27.3), lung (RPKM 14.0) and 24 other tissues.

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. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]

UNC93B1 Products(1)

mRNA	Protein	Name
NM_030930.4	NP_112192.2	protein unc-93 homolog B1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables Toll-like receptor binding	IPI IPI: Inferred from physical interaction	33432245	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22164301	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in toll-like receptor 3 signaling pathway	IMP IMP: Inferred from mutant phenotype	18082565	GOA
involved in toll-like receptor 7 signaling pathway	IMP IMP: Inferred from mutant phenotype	19006693	GOA
involved in toll-like receptor 9 signaling pathway	IMP IMP: Inferred from mutant phenotype	19006693	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18082565	GOA
located in endosome	IDA IDA: Inferred from direct assay	21642595	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UNC93B1 Protein Structure

UNC-93

0
100
200
300
400
500
596 a.a.

Protein Preferred Names

Protein Names

protein unc-93 homolog B1

unc-93 related protein

Related Diseases

Diseases

Alias

Encephalopathy, Acute, Infection-Induced 1

Herpes Simplex Encephalitis, Susceptibility To, 1	IIAE1
Encephalopathy, Acute, Infection-Induced , Susceptibility To, 1	Herpes Simplex Encephalitis 1
Encephalopathy, Acute, Infection-Induced, 1, Herpes-Specific	Encephalopathy, Acute, Infection-Induced, 1
Hse1	Infection-Induced Acute Encephalopathy 1

Herpes Simplex Encephalitis

Hse	Hsv Encephalitis
Hsve	Herpes Simplex Meningo-Encephalitis
Herpes Simplex Neuroinvasion	Herpes Simplex Virus Encephalitis
Herpetic Encephalitis	Herpes Encephalitis
Herpes Simplex Virus 1 Encephalitis

Encephalitis

Mumps Encephalitis	Mumps Meningoencephalitis
Herpes Simplex Neuroinvasion	Herpetic Encephalitis
Herpetic Encephalopathy	Herpes Simplex Encephalitis, Myelitis Or Encephalomyelitis
Encephalitis Due To Herpesviridae	Encephalitis Due To Herpesvirus
Herpes Encephalitis	Herpesviral Encephalitis
Herpes Simplex Encephalitis	Hsv - [Herpes Simplex Virus] Encephalitis
Herpes Virus Encephalitis	Simian B Disease
Simian B Disorder	Encephalitis Nec
Idiopathic Encephalitis

Herpes Simplex

Herpes Simplex Infections	Herpesvirus Hominis Disease
Herpes Simplex Disease	Herpesviral Infection Due To Herpes Simplex
Infections Due To Simplex Virus	Herpes Nos

Melkersson-Rosenthal Syndrome

Melkersson Syndrome	Mros
Mrs	Cheilitis Granulomatosa Of Mescher-Melkersson-Rosenthal
Melkersson'S Syndrome	Cheilitis Granulomatosa
Granulomatous Cheilitis

Immunodeficiency 31b

IMD31B	Immunodeficiency 31b, Mycobacterial And Viral Infections, Autosomal Recessive
Autosomal Recessive Stat1 Deficiency	Predisposition To Severe Viral Infection Due To Stat1 Deficiency
Susceptibility To Viral And Mycobacterial Infections Due To Stat1 Deficiency	Stat1 Deficiency, Autosomal Recessive
Autosomal Recessive Immunodeficiency 31b, Mycobacterial And Viral Infections	Stat1 Deficiency
Autosomal Recessive Susceptibility To Mycobacterial And Viral Infections	Mycobacterial And Viral Infections Due To Complete Stat1 Deficiency
Immunodeficiency, Type 31b, Mycobacterial And Viral Infections, Autosomal Recessive

Viral Encephalitis

Epidemic Encephalitis	Encephalitis Viral
Encephalitis, Arbovirus	Arbovirus Encephalitis
Postviral Encephalitis Nos	Equine Encephalitis
Tick-Borne Encephalitis	Viral Encephalitis Transmitted By Tick
Mosquito-Borne Encephalitis	Acute Haemorrhagic Encephalitis
Acute Idiopathic Encephalitis	Chronic Viral Encephalitis
Endemic Encephalitis	Subacute Viral Encephalitis
Viral Haemorrhagic Encephalitis	Viral Nonepidemic Encephalitis
Nonepidemic Encephalitis

Acute Necrotizing Encephalitis

Acute Necrotizing Encephalopathy	Postinfectious Acute Necrotizing Hemorrhagic Encephalopathy
Ane	Acute Necrotizing Encephalopathy Type 1
Adane	Ane1
Autosomal Dominant Acute Necrotizing Encephalopathy	Iiae3
Susceptibility To Acute Necrotizing Encephalopathy	Susceptibility To Infection-Induced Acute Encephalopathy
Encephalopathy, Acute Necrotizing, Susceptibility To	Encephalitis, Acute Necrotizing

Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2	FHL2
Hplh2	Hlh2
Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To	Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

X-Linked Immunodeficiency 74

Immunodeficiency 74, Covid-19-Related, X-Linked	Imd74
Respiratory Insufficiency Due To Sars-Cov-2 Viral Infection	Tlr7 Deficiency
X-Linked Immunodeficiency 74,Covid-19-Related

Cataract 44

CTRCT44	Total Early-Onset Cataract
Cataract 44 And Hypotrichosis	Cataract And Hypotrichosis
Cataract, Type 44

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis, Susceptibility To, 1
Lutz-Lewandowsky Epidermodysplasia Verruciformis	EV1
Lewandowsky-Lutz Syndrome	Ev

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome	Cree Encephalitis
Aicardi-Goutières Syndrome	Encephalopathy With Basal Ganglia Calcification
Ags	Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid
Pseudotoxoplasmosis Syndrome	Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis	Aicardi-Goutieres Syndrome 1

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15476	UNC93B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UNC93B1	MGD	MGI:1859307
Canis familiaris	UNC93B1	VGNC	VGNC:49636
Macaca mulatta	UNC93B1	VGNC	VGNC:78927
Bos taurus	UNC93B1	VGNC	VGNC:49587
Felis catus	UNC93B1	VGNC	VGNC:66836
Rattus norvegicus	UNC93B1	RGD	RGD:1311984

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