Human Gene TLR7 (uc004cvc.3)
  Description: Homo sapiens toll-like receptor 7 (TLR7), mRNA.
RefSeq Summary (NM_016562): The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chrX:12,885,202-12,908,480 Size: 23,279 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chrX:12,885,698-12,906,777 Size: 21,080 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:12,885,202-12,908,480)mRNA (may differ from genome)Protein (1049 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TLR7_HUMAN
DESCRIPTION: RecName: Full=Toll-like receptor 7; Flags: Precursor;
FUNCTION: Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR7 is a nucleotide-sensing TLR which is activated by single-stranded RNA. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity).
SUBUNIT: Interacts with MYD88 via their respective TIR domains. Interacts with UNC93B1 (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity). Endosome (By similarity). Lysosome (By similarity). Cytoplasmic vesicle, phagosome. Note=Relocalizes from endoplasmic reticulum to endosome and lysosome upon stimulation with agonist (By similarity).
TISSUE SPECIFICITY: Detected in brain, placenta, spleen, stomach, small intestine, lung and in plasmacytoid pre-dendritic cells.
SIMILARITY: Belongs to the Toll-like receptor family.
SIMILARITY: Contains 27 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 TIR domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TLR7
CDC HuGE Published Literature: TLR7
Positive Disease Associations: Celiac disease , fibrosis hepatitis C, chronic , Genetic Diseases, X-Linked|Lupus Erythematosus, Systemic|Systemic lupus erythematosus , HIV Infections
Related Studies:
  1. Celiac disease
    Dubois ,et al. Nat Genet 2010, Multiple common variants for celiac disease influencing immune gene expression , Nature genetics 2010 42- 4 : 295-302. [PubMed 20190752]
  2. fibrosis hepatitis C, chronic
    Schott, E. et al. 2007, A Toll-like receptor 7 single nucleotide polymorphism protects from advanced inflammation and fibrosis in male patients with chronic HCV-infection, J Hepatol 2007. [PubMed 17512627]
    This is the first analysis of TLR7 SNPs in patients with chronic HCV-infection. Our data suggest that the c.1-120G TLR7 allele offers protection from the development of inflammation and fibrosis in male patients with chronic HCV-infection.
  3. Genetic Diseases, X-Linked|Lupus Erythematosus, Systemic|Systemic lupus erythematosus
    Shen N et al. 2010, Sex-specific association of X-linked Toll-like receptor 7 (TLR7) with male systemic lupus erythematosus., PNAS 107(36) : 15838-43 2010. [PubMed 20733074]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: TLR7
Diseases sorted by gene-association score: superficial basal cell carcinoma (17), anogenital venereal wart (16), viral infectious disease (7), septicemic plague (7), influenza (5), juvenile nasopharyngeal angiofibroma (4), systemic lupus erythematosus (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.49 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 28.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.50139-0.198 Picture PostScript Text
3' UTR -454.851703-0.267 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000483 - Cys-rich_flank_reg_C
IPR001611 - Leu-rich_rpt
IPR003591 - Leu-rich_rpt_typical-subtyp
IPR000372 - LRR-contain_N
IPR000157 - TIR_dom

Pfam Domains:
PF00560 - Leucine Rich Repeat
PF01582 - TIR domain
PF12799 - Leucine Rich repeats (2 copies)
PF13306 - Leucine rich repeats (6 copies)
PF13516 - Leucine Rich repeat
PF13855 - Leucine rich repeat

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
52200 - Toll/Interleukin receptor TIR domain

ModBase Predicted Comparative 3D Structure on Q9NYK1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003725 double-stranded RNA binding
GO:0003727 single-stranded RNA binding
GO:0004888 transmembrane signaling receptor activity
GO:0008144 drug binding
GO:0035197 siRNA binding

Biological Process:
GO:0001774 microglial cell activation
GO:0001932 regulation of protein phosphorylation
GO:0002224 toll-like receptor signaling pathway
GO:0002376 immune system process
GO:0002755 MyD88-dependent toll-like receptor signaling pathway
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0007165 signal transduction
GO:0007252 I-kappaB phosphorylation
GO:0032722 positive regulation of chemokine production
GO:0032755 positive regulation of interleukin-6 production
GO:0032757 positive regulation of interleukin-8 production
GO:0034154 toll-like receptor 7 signaling pathway
GO:0034162 toll-like receptor 9 signaling pathway
GO:0045078 positive regulation of interferon-gamma biosynthetic process
GO:0045087 innate immune response
GO:0045356 positive regulation of interferon-alpha biosynthetic process
GO:0045359 positive regulation of interferon-beta biosynthetic process
GO:0045416 positive regulation of interleukin-8 biosynthetic process
GO:0050729 positive regulation of inflammatory response
GO:0051607 defense response to virus
GO:0071260 cellular response to mechanical stimulus
GO:1901224 positive regulation of NIK/NF-kappaB signaling

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031410 cytoplasmic vesicle
GO:0032009 early phagosome
GO:0036020 endolysosome membrane
GO:0043235 receptor complex
GO:0045335 phagocytic vesicle


-  Descriptions from all associated GenBank mRNAs
  AK313858 - Homo sapiens cDNA, FLJ94489, Homo sapiens toll-like receptor 7 (TLR7), mRNA.
BC033651 - Homo sapiens toll-like receptor 7, mRNA (cDNA clone MGC:45096 IMAGE:5582912), complete cds.
AF240467 - Homo sapiens toll-like receptor 7 (TLR7) mRNA, complete cds.
AF245702 - Homo sapiens toll-like receptor 7 (TLR7) mRNA, complete cds.
AY358292 - Homo sapiens clone DNA40021 TLR7 (UNQ248) mRNA, complete cds.
JD250016 - Sequence 231040 from Patent EP1572962.
JD378392 - Sequence 359416 from Patent EP1572962.
JD040861 - Sequence 21885 from Patent EP1572962.
CU689684 - Synthetic construct Homo sapiens gateway clone IMAGE:100020487 5' read TLR7 mRNA.
DQ894457 - Synthetic construct Homo sapiens clone IMAGE:100008917; FLH170597.01L; RZPDo839H0397D toll-like receptor 7 (TLR7) gene, encodes complete protein.
KJ898877 - Synthetic construct Homo sapiens clone ccsbBroadEn_08271 TLR7 gene, encodes complete protein.
KR710902 - Synthetic construct Homo sapiens clone CCSBHm_00018089 TLR7 (TLR7) mRNA, encodes complete protein.
AB445659 - Homo sapiens TLR7 mRNA for toll-like receptor 7, complete cds.
DQ891269 - Synthetic construct clone IMAGE:100003899; FLH170601.01X; RZPDo839H0398D toll-like receptor 7 (TLR7) gene, encodes complete protein.
JD515585 - Sequence 496609 from Patent EP1572962.
JD208722 - Sequence 189746 from Patent EP1572962.
JD430349 - Sequence 411373 from Patent EP1572962.
JD529477 - Sequence 510501 from Patent EP1572962.
JD169775 - Sequence 150799 from Patent EP1572962.
JD306415 - Sequence 287439 from Patent EP1572962.
JD055279 - Sequence 36303 from Patent EP1572962.
JD125782 - Sequence 106806 from Patent EP1572962.
JD325463 - Sequence 306487 from Patent EP1572962.
JD152447 - Sequence 133471 from Patent EP1572962.
JD408224 - Sequence 389248 from Patent EP1572962.
JD408223 - Sequence 389247 from Patent EP1572962.
JD393316 - Sequence 374340 from Patent EP1572962.
JD277359 - Sequence 258383 from Patent EP1572962.
JD401803 - Sequence 382827 from Patent EP1572962.
JD481884 - Sequence 462908 from Patent EP1572962.
JD481886 - Sequence 462910 from Patent EP1572962.
JD481885 - Sequence 462909 from Patent EP1572962.
JD446717 - Sequence 427741 from Patent EP1572962.
JD102807 - Sequence 83831 from Patent EP1572962.
JD062791 - Sequence 43815 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04620 - Toll-like receptor signaling pathway

BioCarta from NCI Cancer Genome Anatomy Project
h_tollPathway - Toll-Like Receptor Pathway
h_dcPathway - Dendritic cells in regulating TH1 and TH2 Development

Reactome (by CSHL, EBI, and GO)

Protein Q9NYK1 (Reactome details) participates in the following event(s):

R-HSA-1678920 TLR processing at low pH
R-HSA-1678923 TLR folding by chaperones GP96 and CNPY3
R-HSA-1678944 Folded full-length TLR7/8/9 dissociates from the GP96:CNPY3 complex
R-HSA-167983 Ligand binds to TLR7 or TLR8
R-HSA-1678921 Full-length TLR3/7/8/9 binds to UNC93B1
R-HSA-975175 MyD88 interacts with the activated TLR receptor 7, 8 or 9
R-HSA-975156 IRAK4 binds to the activated TLR7/8 or 9 receptor:MyD88 complex
R-HSA-975098 MyD88 oligomerization within the complex of activated TLR 7/8 or 9 : MyD88
R-HSA-975115 IRAK1/or IRAK2 binds to the activated IRAK4 :MyD88:activated TLR 7/8 or 9.
R-HSA-975100 Dissociation of hp-IRAK1/or IRAK2:TRAF6-oligomer from the p-IRAK4 :oligo-Myd88:activated TLR7/8 or 9 complex
R-HSA-975170 IRAK4 autophosphorylation in the complex with MyD88:activated TLR 7/8 or 9
R-HSA-975125 Multiple IRAK1 autophosphorylation steps within the complex pIRAK4:MyD88:activated TLR7/8 or 9
R-HSA-975134 Second phosphorylation of IRAK1 by IRAK4 bound to MyD88: activated TLR 7/8 or 9
R-HSA-975180 First phosphorylation of IRAK1 by IRAK4 bound to MyD88:activated TLR 7/8 or 9
R-HSA-975160 Phosphorylation of IRAK2 bound to the activated IRAK4:MyD88 oligomer:activated TLR 7/8 or 9
R-HSA-975111 TRAF6 binds to hp- IRAK1/or p-IRAK2:p-IRAK4:MyD88:activated TLR7/8 or 9
R-HSA-975188 TRAF6 interacts with IRF7 upon TLR7/8 or 9 activation
R-HSA-975106 Phosphorylation and release of IRF7 upon TLR7/8 or 9 activation
R-HSA-975118 TRAF6 ubiquitinqtes IRF7 in a K63-dependent manner following TLR7/8 or 9 stimulation
R-HSA-1679131 Trafficking and processing of endosomal TLR
R-HSA-168898 Toll-Like Receptors Cascades
R-HSA-168181 Toll Like Receptor 7/8 (TLR7/8) Cascade
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System
R-HSA-975155 MyD88 dependent cascade initiated on endosome
R-HSA-168138 Toll Like Receptor 9 (TLR9) Cascade
R-HSA-975138 TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
R-HSA-975110 TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling

-  Other Names for This Gene
  Alternate Gene Symbols: D1CS69, NM_016562, NP_057646, Q9NR98, Q9NYK1, TLR7_HUMAN, UNQ248/PRO285
UCSC ID: uc004cvc.3
RefSeq Accession: NM_016562
Protein: Q9NYK1 (aka TLR7_HUMAN)
CCDS: CCDS14151.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016562.3
exon count: 3CDS single in 3' UTR: no RNA size: 4992
ORF size: 3150CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6443.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.