TLR7(?-1049) Y264H [endolysosome membrane]

Stable Identifier
R-HSA-9824828
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endolysosome membrane
Synonyms
TLR7 Y264H C-term fragment, processed TLR7 Y264H, Toll Like Receptor 7 (TLR 7)
Icon
TLR7(?-1049) Y264H [endolysosome membrane] icon
TLR7(?-1049) Y264H [endolysosome membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
35477763 TLR7 gain-of-function genetic variation causes human lupus

Ding, H, Lopez, AF, Calame, DG, Levy, T, Andrews, TD, Field, MA, Lupski, JR, Shen, N, Burgio, G, Miosge, LA, Garulo, DC, Koina, ME, de Lucas Collantes, C, Wu, P, Vinuesa, CG, He, Y, Meng, X, Mallack, EJ, Cho, E, Bassett, K, Babon, JJ, Brown, GJ, Wang, H, Lotze, T, Zhang, Y, Turnbull, C, Ullah, TR, Cañete, PF, Qin, Y, Shen, Q, Gantier, MP, Ellyard, JI, Gónzalez-Murillo, Á, Tvorogov, D, Cook, MC, Cappello, J, Walters, GD, Athanasopoulos, V, Pascual, V, Medhavy, A, Roco, JA, Bones, J, López, CA, Corry, B

Nature 2022
External Reference Information
External Reference
UniProt:Q9NYK1 TLR7
Gene Names
TLR7, UNQ248/PRO285
Chain
signal peptide:1-26, chain:27-1049
Reference Genes
BioGPS Gene:51284 TLR7
COSMIC (genes):TLR7 TLR7
CTD Gene:51284 TLR7
dbSNP Gene:51284 TLR7
ENSEMBL:ENSG00000196664 TLR7
HGNC:15631 TLR7
KEGG:hsa:51284 TLR7
Monarch:51284 TLR7
NCBI Gene:51284 TLR7
OMIM:300365 TLR7
UCSC:Q9NYK1 TLR7
Reference Transcript
Other Identifiers
11731147_at
11731148_at
17101531
220146_PM_at
220146_at
222952_PM_s_at
222952_s_at
3969089
3969091
3969093
3969094
3969096
3969097
3969098
3969099
3969100
51284
59754_at
8166059
91595_at
A_14_P100188
A_23_P62437
A_23_P85240
GE555131
GE82146
GO:0000139
GO:0000165
GO:0001932
GO:0002224
GO:0002376
GO:0003723
GO:0003725
GO:0003727
GO:0005515
GO:0005737
GO:0005764
GO:0005768
GO:0005773
GO:0005783
GO:0005789
GO:0005886
GO:0006355
GO:0006954
GO:0007165
GO:0007249
GO:0007252
GO:0007254
GO:0010008
GO:0016020
GO:0031410
GO:0032009
GO:0032722
GO:0032727
GO:0032728
GO:0032729
GO:0032755
GO:0032757
GO:0034154
GO:0034158
GO:0035197
GO:0036020
GO:0038187
GO:0043123
GO:0043226
GO:0043235
GO:0045087
GO:0045335
GO:0045944
GO:0050729
GO:0051607
GO:0060089
GO:0060255
GO:0060907
GO:0070305
GO:0071260
GO:0098542
GO:0098586
GO:1901224
HMNXSV003012340
ILMN_1677827
PH_hs_0010625
PH_hs_0021181
TC0X000051.hg
g7706092_3p_at
g8575524_3p_a_at
Participates
as a component of
Other forms of this molecule
TLR7(?-1049) F507L [endolysosome membrane]
TLR7 [endoplasmic reticulum membrane]
TLR7 [Golgi membrane]
TLR7(?-1049) [endolysosome membrane]
TLR7 [endolysosome membrane]
TLR7(?-1049) [endosome membrane]
Modified Residues
Name
L-tyrosine 264 replaced with L-histidine
Coordinate
264
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
systemic lupus erythematosus DOID:9074 Lupus Erythematosus, systemic, SLE - Lupus Erythematosus, systemic, disseminated lupus erythematosus
autoimmune hypersensitivity disease DOID:417 autoimmune disease, hypersensitivity reaction type II disease
Cross References
RefSeq
ZINC - World Drugs
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC target
PRO
GlyGen
PDB
ZINC - Investigational
HPA
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
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