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Q9H1C4

- UN93B_HUMAN

UniProt

Q9H1C4 - UN93B_HUMAN

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Protein
Protein unc-93 homolog B1
Gene
UNC93B1, UNC93, UNC93B
Organism
Homo sapiens (Human)
Status
Reviewed - 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 - 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
Complete GO annotation...

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; 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.2 Publications

Topology

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

GO - Cellular componenti

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

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.
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.1 Publication

Organism-specific databases

MIMi610551. phenotype.
Orphaneti1930. Herpetic encephalitis.
PharmGKBiPA37781.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 597597Protein unc-93 homolog B1
PRO_0000190040Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi251 – 2511N-linked (GlcNAc...) Reviewed prediction
Glycosylationi272 – 2721N-linked (GlcNAc...) Reviewed prediction
Glycosylationi449 – 4491N-linked (GlcNAc...) Reviewed prediction
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.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Belongs to the unc-93 family.

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.

Natural variant

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti514 – 5141M → I in CAC19791. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 88 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

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