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Q9H1C4

- UN93B_HUMAN

UniProt

Q9H1C4 - UN93B_HUMAN

Protein

Protein unc-93 homolog B1

Gene

UNC93B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (07 Jun 2005)
      Previous versions | rss
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    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 - Biological processi

    1. defense response to virus Source: UniProtKB-KW
    2. innate immune response Source: Reactome
    3. intracellular protein transport Source: UniProtKB
    4. toll-like receptor 3 signaling pathway Source: UniProtKB
    5. toll-like receptor 7 signaling pathway Source: UniProtKB
    6. toll-like receptor 9 signaling pathway Source: UniProtKB
    7. toll-like receptor signaling pathway Source: Reactome

    Keywords - Biological processi

    Adaptive immunity, Antiviral defense, Immunity, Innate immunity

    Enzyme and pathway databases

    ReactomeiREACT_118632. Trafficking and processing of endosomal TLR.

    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
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:13481. UNC93B1.

    Subcellular locationi

    Endoplasmic reticulum membrane By similarity; 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.By similarity2 Publications

    GO - Cellular componenti

    1. early phagosome Source: UniProtKB
    2. endoplasmic reticulum Source: UniProtKB
    3. endoplasmic reticulum membrane Source: Reactome
    4. endosome Source: UniProtKB
    5. Golgi membrane Source: Reactome
    6. integral component of membrane Source: UniProtKB-KW
    7. lysosome Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    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.

    Organism-specific databases

    MIMi610551. phenotype.
    Orphaneti1930. Herpetic encephalitis.
    PharmGKBiPA37781.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 597597Protein unc-93 homolog B1PRO_0000190040Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi251 – 2511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi272 – 2721N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi449 – 4491N-linked (GlcNAc...)Sequence Analysis
    Modified residuei547 – 5471Phosphoserine1 Publication
    Modified residuei550 – 5501Phosphoserine3 Publications

    Post-translational modificationi

    N-glycosylated.By similarity

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9H1C4.
    PaxDbiQ9H1C4.
    PRIDEiQ9H1C4.

    PTM databases

    PhosphoSiteiQ9H1C4.

    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

    ArrayExpressiQ9H1C4.
    BgeeiQ9H1C4.
    CleanExiHS_UNC93B1.
    GenevestigatoriQ9H1C4.

    Organism-specific databases

    HPAiHPA038717.
    HPA042803.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi123557. 29 interactions.
    IntActiQ9H1C4. 1 interaction.
    STRINGi9606.ENSP00000227471.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H1C4.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei64 – 8421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei110 – 13021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei132 – 15221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei160 – 18021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei223 – 24321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei285 – 30521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei343 – 36321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei378 – 39821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei403 – 42321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei428 – 44821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei469 – 48921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei491 – 51121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi45 – 495Poly-Glu

    Sequence similaritiesi

    Belongs to the unc-93 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG294869.
    HOGENOMiHOG000132956.
    HOVERGENiHBG084638.
    InParanoidiQ9H1C4.
    OrthoDBiEOG7GQXVK.
    PhylomeDBiQ9H1C4.
    TreeFamiTF314905.

    Family and domain databases

    InterProiIPR010291. Ion_channel_UNC-93.
    [Graphical view]
    PfamiPF05978. UNC-93. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H1C4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEAEPPLYPM AGAAGPQGDE DLLGVPDGPE APLDELVGAY PNYNEEEEER    50
    RYYRRKRLGV LKNVLAASAG GMLTYGVYLG LLQMQLILHY DETYREVKYG 100
    NMGLPDIDSK MLMGINVTPI AALLYTPVLI RFFGTKWMMF LAVGIYALFV 150
    STNYWERYYT LVPSAVALGM AIVPLWASMG NYITRMAQKY HEYSHYKEQD 200
    GQGMKQRPPR GSHAPYLLVF QAIFYSFFHL SFACAQLPMI YFLNHYLYDL 250
    NHTLYNVQSC GTNSHGILSG FNKTVLRTLP RSGNLIVVES VLMAVAFLAM 300
    LLVLGLCGAA YRPTEEIDLR SVGWGNIFQL PFKHVRDYRL RHLVPFFIYS 350
    GFEVLFACTG IALGYGVCSV GLERLAYLLV AYSLGASAAS LLGLLGLWLP 400
    RPVPLVAGAG VHLLLTFILF FWAPVPRVLQ HSWILYVAAA LWGVGSALNK 450
    TGLSTLLGIL YEDKERQDFI FTIYHWWQAV AIFTVYLGSS LHMKAKLAVL 500
    LVTLVAAAVS YLRMEQKLRR GVAPRQPRIP RPQHKVRGYR YLEEDNSDES 550
    DAEGEHGDGA EEEAPPAGPR PGPEPAGLGR RPCPYEQAQG GDGPEEQ 597
    Length:597
    Mass (Da):66,631
    Last modified:June 7, 2005 - v2
    Checksum:i8CAAB41678095157
    GO

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti514 – 5141M → I in CAC19791. (PubMed:11867227)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti436 – 4361Y → C.
    Corresponds to variant rs3175471 [ dbSNP | Ensembl ].
    VAR_059850

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    RefSeqiNP_112192.2. NM_030930.3.
    UniGeneiHs.502989.

    Genome annotation databases

    EnsembliENST00000227471; ENSP00000227471; ENSG00000110057.
    GeneIDi81622.
    KEGGihsa:81622.
    UCSCiuc001omw.1. human.

    Polymorphism databases

    DMDMi67462081.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    UNC93B1base

    UNC93B1 mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    RefSeqi NP_112192.2. NM_030930.3.
    UniGenei Hs.502989.

    3D structure databases

    ProteinModelPortali Q9H1C4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123557. 29 interactions.
    IntActi Q9H1C4. 1 interaction.
    STRINGi 9606.ENSP00000227471.

    PTM databases

    PhosphoSitei Q9H1C4.

    Polymorphism databases

    DMDMi 67462081.

    Proteomic databases

    MaxQBi Q9H1C4.
    PaxDbi Q9H1C4.
    PRIDEi Q9H1C4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000227471 ; ENSP00000227471 ; ENSG00000110057 .
    GeneIDi 81622.
    KEGGi hsa:81622.
    UCSCi uc001omw.1. human.

    Organism-specific databases

    CTDi 81622.
    GeneCardsi GC11M067759.
    HGNCi HGNC:13481. UNC93B1.
    HPAi HPA038717.
    HPA042803.
    MIMi 608204. gene.
    610551. phenotype.
    neXtProti NX_Q9H1C4.
    Orphaneti 1930. Herpetic encephalitis.
    PharmGKBi PA37781.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG294869.
    HOGENOMi HOG000132956.
    HOVERGENi HBG084638.
    InParanoidi Q9H1C4.
    OrthoDBi EOG7GQXVK.
    PhylomeDBi Q9H1C4.
    TreeFami TF314905.

    Enzyme and pathway databases

    Reactomei REACT_118632. Trafficking and processing of endosomal TLR.

    Miscellaneous databases

    ChiTaRSi UNC93B1. human.
    GeneWikii UNC93B1.
    GenomeRNAii 81622.
    NextBioi 71988.
    PROi Q9H1C4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H1C4.
    Bgeei Q9H1C4.
    CleanExi HS_UNC93B1.
    Genevestigatori Q9H1C4.

    Family and domain databases

    InterProi IPR010291. Ion_channel_UNC-93.
    [Graphical view ]
    Pfami PF05978. UNC-93. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. 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. Cited for: FUNCTION.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-547 AND SER-550, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. 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].

    Entry informationi

    Entry nameiUN93B_HUMAN
    AccessioniPrimary (citable) accession number: Q9H1C4
    Secondary accession number(s): O95764, Q569H6, Q710D4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2005
    Last sequence update: June 7, 2005
    Last modified: October 1, 2014
    This is version 89 of the entry and version 2 of the sequence. [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

    External Data

    Dasty 3