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Protein

Protein unc-93 homolog B1

Gene

UNC93B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B-cells removal.1 Publication

GO - Molecular functioni

GO - Biological processi

  • adaptive immune response Source: UniProtKB-KW
  • defense response to virus Source: UniProtKB-KW
  • innate immune response Source: UniProtKB-KW
  • intracellular protein transport Source: UniProtKB
  • toll-like receptor 3 signaling pathway Source: UniProtKB
  • toll-like receptor 7 signaling pathway Source: UniProtKB
  • toll-like receptor 9 signaling pathway Source: UniProtKB
  • toll-like receptor signaling pathway Source: Reactome

Keywordsi

Biological processAdaptive immunity, Antiviral defense, Immunity, Innate immunity

Enzyme and pathway databases

ReactomeiR-HSA-1679131. Trafficking and processing of endosomal TLR.

Protein family/group databases

TCDBi2.A.1.58.7. the major facilitator superfamily (mfs).

Names & Taxonomyi

Protein namesi
Recommended name:
Protein unc-93 homolog B1
Short name:
Unc-93B1
Short name:
hUNC93B1
Gene namesi
Name:UNC93B1
Synonyms:UNC93, UNC93B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000110057.7.
HGNCiHGNC:13481. UNC93B1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei64 – 84HelicalSequence analysisAdd BLAST21
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Transmembranei132 – 152HelicalSequence analysisAdd BLAST21
Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Transmembranei223 – 243HelicalSequence analysisAdd BLAST21
Transmembranei285 – 305HelicalSequence analysisAdd BLAST21
Transmembranei343 – 363HelicalSequence analysisAdd BLAST21
Transmembranei378 – 398HelicalSequence analysisAdd BLAST21
Transmembranei403 – 423HelicalSequence analysisAdd BLAST21
Transmembranei428 – 448HelicalSequence analysisAdd BLAST21
Transmembranei469 – 489HelicalSequence analysisAdd BLAST21
Transmembranei491 – 511HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Herpes simplex encephalitis 1 (HSE1)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in UNC93B1 resulting in autosomal recessive UNC93B1 deficieny predispose otherwise healthy individuals to isolated herpes simplex encephalitis due to impaired IFNs production. UNC93B1 deficieny, however, does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies.
Disease descriptionA rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. HSE is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome.
See also OMIM:610551

Organism-specific databases

DisGeNETi81622.
MalaCardsiUNC93B1.
MIMi610551. phenotype.
OpenTargetsiENSG00000110057.
Orphaneti1930. Herpetic encephalitis.
PharmGKBiPA37781.

Polymorphism and mutation databases

BioMutaiUNC93B1.
DMDMi67462081.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001900401 – 597Protein unc-93 homolog B1Add BLAST597

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi251N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi272N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi449N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei547PhosphoserineCombined sources1
Modified residuei550PhosphoserineCombined sources1

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9H1C4.
MaxQBiQ9H1C4.
PaxDbiQ9H1C4.
PeptideAtlasiQ9H1C4.
PRIDEiQ9H1C4.

PTM databases

iPTMnetiQ9H1C4.
PhosphoSitePlusiQ9H1C4.

Expressioni

Tissue specificityi

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.3 Publications

Inductioni

Up-regulated by TLRs agonists.1 Publication

Gene expression databases

BgeeiENSG00000110057.
CleanExiHS_UNC93B1.
ExpressionAtlasiQ9H1C4. baseline and differential.
GenevisibleiQ9H1C4. HS.

Organism-specific databases

HPAiHPA038716.
HPA038717.
HPA042803.

Interactioni

Subunit structurei

Interacts with TLR3, TLR7, and TLR9 (probably via transmembrane domain).By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123557. 33 interactors.
IntActiQ9H1C4. 12 interactors.
STRINGi9606.ENSP00000227471.

Structurei

3D structure databases

ProteinModelPortaliQ9H1C4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi45 – 49Poly-Glu5

Sequence similaritiesi

Belongs to the unc-93 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3097. Eukaryota.
ENOG410XTFP. LUCA.
GeneTreeiENSGT00530000063359.
HOGENOMiHOG000132956.
HOVERGENiHBG084638.
InParanoidiQ9H1C4.
OMAiRIPRPRH.
OrthoDBiEOG091G044S.
PhylomeDBiQ9H1C4.
TreeFamiTF314905.

Family and domain databases

InterProiView protein in InterPro
IPR010291. Ion_channel_UNC-93.
PfamiView protein in Pfam
PF05978. UNC-93. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9H1C4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEAEPPLYPM AGAAGPQGDE DLLGVPDGPE APLDELVGAY PNYNEEEEER
60 70 80 90 100
RYYRRKRLGV LKNVLAASAG GMLTYGVYLG LLQMQLILHY DETYREVKYG
110 120 130 140 150
NMGLPDIDSK MLMGINVTPI AALLYTPVLI RFFGTKWMMF LAVGIYALFV
160 170 180 190 200
STNYWERYYT LVPSAVALGM AIVPLWASMG NYITRMAQKY HEYSHYKEQD
210 220 230 240 250
GQGMKQRPPR GSHAPYLLVF QAIFYSFFHL SFACAQLPMI YFLNHYLYDL
260 270 280 290 300
NHTLYNVQSC GTNSHGILSG FNKTVLRTLP RSGNLIVVES VLMAVAFLAM
310 320 330 340 350
LLVLGLCGAA YRPTEEIDLR SVGWGNIFQL PFKHVRDYRL RHLVPFFIYS
360 370 380 390 400
GFEVLFACTG IALGYGVCSV GLERLAYLLV AYSLGASAAS LLGLLGLWLP
410 420 430 440 450
RPVPLVAGAG VHLLLTFILF FWAPVPRVLQ HSWILYVAAA LWGVGSALNK
460 470 480 490 500
TGLSTLLGIL YEDKERQDFI FTIYHWWQAV AIFTVYLGSS LHMKAKLAVL
510 520 530 540 550
LVTLVAAAVS YLRMEQKLRR GVAPRQPRIP RPQHKVRGYR YLEEDNSDES
560 570 580 590
DAEGEHGDGA EEEAPPAGPR PGPEPAGLGR RPCPYEQAQG GDGPEEQ
Length:597
Mass (Da):66,631
Last modified:June 7, 2005 - v2
Checksum:i8CAAB41678095157
GO

Sequence cautioni

The sequence AAD15416 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti514M → I in CAC19791 (PubMed:11867227).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059850436Y → C. Corresponds to variant dbSNP:rs3175471Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271326 mRNA. Translation: CAC19791.1.
AC004923 Genomic DNA. Translation: AAD15416.1. Sequence problems.
BC092472 mRNA. Translation: AAH92472.1.
BC101568 mRNA. Translation: AAI01569.1.
BC105104 mRNA. Translation: AAI05105.1.
AJ422142 mRNA. Translation: CAD19522.1.
CCDSiCCDS73334.1.
RefSeqiNP_112192.2. NM_030930.3.
UniGeneiHs.502989.

Genome annotation databases

EnsembliENST00000227471; ENSP00000227471; ENSG00000110057.
GeneIDi81622.
KEGGihsa:81622.
UCSCiuc031xth.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiUN93B_HUMAN
AccessioniPrimary (citable) accession number: Q9H1C4
Secondary accession number(s): O95764, Q569H6, Q710D4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: June 7, 2005
Last modified: September 27, 2017
This is version 115 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families