Seroatlas · Human Serome Atlas

UNC93B1

Protein unc-93 homolog B1

Also known as: UN93B_HUMAN, UNC93

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H1C4
Gene: UNC93B1
Ensembl: ENSG00000110057
Chromosome: 11
Canonical length: 597 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

597 residues, UniProt reviewed canonical sequence.

>Q9H1C4|UNC93B1
     1  MEAEPPLYPM AGAAGPQGDE DLLGVPDGPE APLDELVGAY PNYNEEEEER RYYRRKRLGV
    61  LKNVLAASAG GMLTYGVYLG LLQMQLILHY DETYREVKYG NMGLPDIDSK MLMGINVTPI
   121  AALLYTPVLI RFFGTKWMMF LAVGIYALFV STNYWERYYT LVPSAVALGM AIVPLWASMG
   181  NYITRMAQKY HEYSHYKEQD GQGMKQRPPR GSHAPYLLVF QAIFYSFFHL SFACAQLPMI
   241  YFLNHYLYDL NHTLYNVQSC GTNSHGILSG FNKTVLRTLP RSGNLIVVES VLMAVAFLAM
   301  LLVLGLCGAA YRPTEEIDLR SVGWGNIFQL PFKHVRDYRL RHLVPFFIYS GFEVLFACTG
   361  IALGYGVCSV GLERLAYLLV AYSLGASAAS LLGLLGLWLP RPVPLVAGAG VHLLLTFILF
   421  FWAPVPRVLQ HSWILYVAAA LWGVGSALNK TGLSTLLGIL YEDKERQDFI FTIYHWWQAV
   481  AIFTVYLGSS LHMKAKLAVL LVTLVAAAVS YLRMEQKLRR GVAPRQPRIP RPQHKVRGYR
   541  YLEEDNSDES DAEGEHGDGA EEEAPPAGPR PGPEPAGLGR RPCPYEQAQG GDGPEEQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UNC93B1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 12
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 74 nTPM

Expression across tissuesHPA

Tissue

spleen: 74 nTPM
small intestine: 34 nTPM
lung: 29 nTPM
salivary gland: 27 nTPM
lymph node: 26 nTPM
duodenum: 21 nTPM

Single-cell type

pdcs: 180 nCPM
respiratory ciliated cells: 161 nCPM
hofbauer cells: 104 nCPM
fallopian tube ciliated cells: 86 nCPM
macrophages: 83 nCPM
microglia: 80 nCPM

Immune cell

plasmacytoid DC: 18 nTPM
non-classical monocyte: 8.4 nTPM
intermediate monocyte: 8 nTPM
eosinophil: 7 nTPM
myeloid DC: 5.6 nTPM
classical monocyte: 4.5 nTPM

Brain region

medulla oblongata: 21 nTPM
white matter: 20 nTPM
pons: 16 nTPM
spinal cord: 16 nTPM
thalamus: 14 nTPM
midbrain: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UNC93B1.

Disease | AllUniProt

Conditions UNC93B1 is implicated in, by any mechanism.

Encephalopathy, acute, infection-induced, 1, herpes-specific (IIAE1) MIM:610551

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 475 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Herpes simplex encephalitis, susceptibility to, 1
Immunodeficiency
UNC93B1-related disorder
Type 1 interferonopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.51
gnomAD pLI: 0.14
gnomAD missense Z: 1.86

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Toll-like receptor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Protein unc-93 homolog B1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of UNC93B1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads UNC93B1 as an antibody target. Whether an autoantibody or antibody against UNC93B1 could matter depends on whether native UNC93B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UNC93B1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label UNC93B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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