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Q9H1C4 (UN93B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 14, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein unc-93 homolog B1

Short name=Unc-93B1
Short name=hUNC93B1
Gene names
Name:UNC93B1
Synonyms:UNC93, UNC93B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length597 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8

Subunit structure

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

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity. Endosome By similarity. Lysosome By similarity. Cytoplasmic vesiclephagosome By similarity. Note: Relocalizes from endoplasmic reticulum to endosome and lysosome upon cell-stimulation with CpG dinucleotides By similarity. Colocalizes with LAMP5 in large endosomal intracellular vesicles. Ref.7 Ref.11

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. Ref.1 Ref.7 Ref.11

Induction

Up-regulated by TLRs agonists. Ref.7

Post-translational modification

N-glycosylated By similarity.

Involvement in disease

Herpes simplex encephalitis 1 (HSE1) [MIM:610551]: A 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.
Note: 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. Ref.6

Sequence similarities

Belongs to the unc-93 family.

Sequence caution

The sequence AAD15416.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Biological processAdaptive immunity
Antiviral defense
Immunity
Innate immunity
   Cellular componentCytoplasmic vesicle
Endoplasmic reticulum
Endosome
Lysosome
Membrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdefense response to virus

Inferred from electronic annotation. Source: UniProtKB-KW

innate immune response

Traceable author statement. Source: Reactome

intracellular protein transport

Inferred from sequence or structural similarity. Source: UniProtKB

toll-like receptor 3 signaling pathway

Inferred from mutant phenotype Ref.7. Source: UniProtKB

toll-like receptor 7 signaling pathway

Inferred from mutant phenotype Ref.8. Source: UniProtKB

toll-like receptor 9 signaling pathway

Inferred from mutant phenotype Ref.8. Source: UniProtKB

toll-like receptor signaling pathway

Traceable author statement. Source: Reactome

   Cellular_componentGolgi membrane

Traceable author statement. Source: Reactome

early phagosome

Inferred from sequence or structural similarity. Source: UniProtKB

endoplasmic reticulum

Inferred from direct assay Ref.7Ref.11. Source: UniProtKB

endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

endosome

Inferred from direct assay Ref.11. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

lysosome

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 597597Protein unc-93 homolog B1
PRO_0000190040

Regions

Transmembrane64 – 8421Helical; Potential
Transmembrane110 – 13021Helical; Potential
Transmembrane132 – 15221Helical; Potential
Transmembrane160 – 18021Helical; Potential
Transmembrane223 – 24321Helical; Potential
Transmembrane285 – 30521Helical; Potential
Transmembrane343 – 36321Helical; Potential
Transmembrane378 – 39821Helical; Potential
Transmembrane403 – 42321Helical; Potential
Transmembrane428 – 44821Helical; Potential
Transmembrane469 – 48921Helical; Potential
Transmembrane491 – 51121Helical; Potential
Compositional bias45 – 495Poly-Glu

Amino acid modifications

Modified residue5471Phosphoserine Ref.9
Modified residue5501Phosphoserine Ref.5 Ref.9 Ref.10
Glycosylation2511N-linked (GlcNAc...) Potential
Glycosylation2721N-linked (GlcNAc...) Potential
Glycosylation4491N-linked (GlcNAc...) Potential

Natural variations

Natural variant4361Y → C.
Corresponds to variant rs3175471 [ dbSNP | Ensembl ].
VAR_059850

Experimental info

Sequence conflict5141M → I in CAC19791. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9H1C4 [UniParc].

Last modified June 7, 2005. Version 2.
Checksum: 8CAAB41678095157

FASTA59766,631
        10         20         30         40         50         60 
MEAEPPLYPM AGAAGPQGDE DLLGVPDGPE APLDELVGAY PNYNEEEEER RYYRRKRLGV 

        70         80         90        100        110        120 
LKNVLAASAG GMLTYGVYLG LLQMQLILHY DETYREVKYG NMGLPDIDSK MLMGINVTPI 

       130        140        150        160        170        180 
AALLYTPVLI RFFGTKWMMF LAVGIYALFV STNYWERYYT LVPSAVALGM AIVPLWASMG 

       190        200        210        220        230        240 
NYITRMAQKY HEYSHYKEQD GQGMKQRPPR GSHAPYLLVF QAIFYSFFHL SFACAQLPMI 

       250        260        270        280        290        300 
YFLNHYLYDL NHTLYNVQSC GTNSHGILSG FNKTVLRTLP RSGNLIVVES VLMAVAFLAM 

       310        320        330        340        350        360 
LLVLGLCGAA YRPTEEIDLR SVGWGNIFQL PFKHVRDYRL RHLVPFFIYS GFEVLFACTG 

       370        380        390        400        410        420 
IALGYGVCSV GLERLAYLLV AYSLGASAAS LLGLLGLWLP RPVPLVAGAG VHLLLTFILF 

       430        440        450        460        470        480 
FWAPVPRVLQ HSWILYVAAA LWGVGSALNK TGLSTLLGIL YEDKERQDFI FTIYHWWQAV 

       490        500        510        520        530        540 
AIFTVYLGSS LHMKAKLAVL LVTLVAAAVS YLRMEQKLRR GVAPRQPRIP RPQHKVRGYR 

       550        560        570        580        590 
YLEEDNSDES DAEGEHGDGA EEEAPPAGPR PGPEPAGLGR RPCPYEQAQG GDGPEEQ 

« Hide

References

« Hide 'large scale' references
[1]"hUNC93B1: a novel human gene representing a new gene family and encoding an unc-93-like protein."
Kashuba V.I., Protopopov A.I., Kvasha S.M., Gizatullin R.Z., Wahlestedt C., Kisselev L.L., Klein G., Zabarovsky E.R.
Gene 283:209-217(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Kidney.
[2]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain and Placenta.
[4]"Cloning and characterization of mammalian homologs of unc-93 from Caenorhabditis elegans, a protein relevant for muscle contraction."
Kollewe A.
Thesis (2001), University of Hannover, Germany
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-497.
Tissue: Uterus.
[5]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-550, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"Herpes simplex virus encephalitis in human UNC-93B deficiency."
Casrouge A., Zhang S.-Y., Eidenschenk C., Jouanguy E., Puel A., Yang K., Alcais A., Picard C., Mahfoufi N., Nicolas N., Lorenzo L., Plancoulaine S., Senechal B., Geissmann F., Tabeta K., Hoebe K., Du X., Miller R.L. expand/collapse author list , Heron B., Mignot C., de Villemeur T.B., Lebon P., Dulac O., Rozenberg F., Beutler B., Tardieu M., Abel L., Casanova J.-L.
Science 314:308-312(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN HSE1.
[7]"Assessing the function of human UNC-93B in Toll-like receptor signaling and major histocompatibility complex II response."
Koehn J., Huesken D., Jaritz M., Rot A., Zurini M., Dwertmann A., Beutler B., Korthaeuer U.
Hum. Immunol. 68:871-878(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
[8]"IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans."
Isnardi I., Ng Y.S., Srdanovic I., Motaghedi R., Rudchenko S., von Bernuth H., Zhang S.Y., Puel A., Jouanguy E., Picard C., Garty B.Z., Camcioglu Y., Doffinger R., Kumararatne D., Davies G., Gallin J.I., Haraguchi S., Day N.K., Casanova J.L., Meffre E.
Immunity 29:746-757(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-547 AND SER-550, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-550, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"BAD-LAMP is a novel biomarker of nonactivated human plasmacytoid dendritic cells."
Defays A., David A., de Gassart A., De Angelis Rigotti F., Wenger T., Camossetto V., Brousset P., Petrella T., Dalod M., Gatti E., Pierre P.
Blood 118:609-617(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[12]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Web resources

UNC93B1base

UNC93B1 mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_112192.2. NM_030930.3.
UniGeneHs.502989.

3D structure databases

ProteinModelPortalQ9H1C4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123557. 29 interactions.
IntActQ9H1C4. 1 interaction.
STRING9606.ENSP00000227471.

PTM databases

PhosphoSiteQ9H1C4.

Polymorphism databases

DMDM67462081.

Proteomic databases

MaxQBQ9H1C4.
PaxDbQ9H1C4.
PRIDEQ9H1C4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000227471; ENSP00000227471; ENSG00000110057.
GeneID81622.
KEGGhsa:81622.
UCSCuc001omw.1. human.

Organism-specific databases

CTD81622.
GeneCardsGC11M067759.
HGNCHGNC:13481. UNC93B1.
HPAHPA038717.
HPA042803.
MIM608204. gene.
610551. phenotype.
neXtProtNX_Q9H1C4.
Orphanet1930. Herpetic encephalitis.
PharmGKBPA37781.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG294869.
HOGENOMHOG000132956.
HOVERGENHBG084638.
InParanoidQ9H1C4.
OrthoDBEOG7GQXVK.
PhylomeDBQ9H1C4.
TreeFamTF314905.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

ArrayExpressQ9H1C4.
BgeeQ9H1C4.
CleanExHS_UNC93B1.
GenevestigatorQ9H1C4.

Family and domain databases

InterProIPR010291. Ion_channel_UNC-93.
[Graphical view]
PfamPF05978. UNC-93. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSUNC93B1. human.
GeneWikiUNC93B1.
GenomeRNAi81622.
NextBio71988.
PROQ9H1C4.
SOURCESearch...

Entry information

Entry nameUN93B_HUMAN
AccessionPrimary (citable) accession number: Q9H1C4
Secondary accession number(s): O95764, Q569H6, Q710D4
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: June 7, 2005
Last modified: May 14, 2014
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM