Gene Gene information from NCBI Gene database.
Entrez ID 10859
Gene name Leukocyte immunoglobulin like receptor B1
Gene symbol LILRB1
Synonyms (NCBI Gene)
CD85JILT-2ILT2LIR-1LIR1MIR-7MIR7PIR-BPIRB
Chromosome 19
Chromosome location 19q13.42
Summary This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular
miRNA miRNA information provided by mirtarbase database.
488
miRTarBase ID miRNA Experiments Reference
MIRT609970 hsa-miR-8485 HITS-CLIP 21572407
MIRT609969 hsa-miR-329-3p HITS-CLIP 21572407
MIRT609968 hsa-miR-362-3p HITS-CLIP 21572407
MIRT609967 hsa-miR-603 HITS-CLIP 21572407
MIRT625538 hsa-miR-4789-3p HITS-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TRERF1 Repression 18652845
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IDA 24052308
GO:0001915 Process Negative regulation of T cell mediated cytotoxicity IDA 21213105
GO:0002230 Process Positive regulation of defense response to virus by host IDA 18398485
GO:0002250 Process Adaptive immune response IEA
GO:0002309 Process T cell proliferation involved in immune response IDA 18094328
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604811 6605 ENSG00000104972
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NHL6
Protein name Leukocyte immunoglobulin-like receptor subfamily B member 1 (LIR-1) (Leukocyte immunoglobulin-like receptor 1) (CD85 antigen-like family member J) (Immunoglobulin-like transcript 2) (ILT-2) (Monocyte/macrophage immunoglobulin-like receptor 7) (MIR-7) (CD
Protein function Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C, HLA-G and HLA-F alleles (PubMed:16455647, PubMed:28636952). Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inh
PDB 1G0X , 1P7Q , 1UFU , 1UGN , 1VDG , 3D2U , 4LL9 , 4NO0 , 5KNM , 6AEE , 6EWA , 6EWC , 6EWO , 6K60 , 6ZDX , 7KFK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13895 Ig_2 28 118 Immunoglobulin domain Domain
PF00047 ig 329 410 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in B cells, monocytes and various dendritic cell (DC) subsets including myeloid, plasmacytoid and tolerogenic DCs (at protein level) (PubMed:20448110, PubMed:24453251, PubMed:9285411, PubMed:9842885). Expressed in decidual ma
Sequence
MTPILTVLICLGLSLGPRTHVQAGHLPKPTLWAEPGSVITQGSPVTLRCQGGQETQEYRL
YREKKTALWITRIPQELVKKGQFPIPSITWEHAGRYRCYYGSDTAGRSESSDPLELVV
TG
AYIKPTLSAQPSPVVNSGGNVILQCDSQVAFDGFSLCKEGEDEHPQCLNSQPHARGSSRA
IFSVGPVSPSRRWWYRCYAYDSNSPYEWSLPSDLLELLVLGVSKKPSLSVQPGPIVAPEE
TLTLQCGSDAGYNRFVLYKDGERDFLQLAGAQPQAGLSQANFTLGPVSRSYGGQYRCYGA
HNLSSEWSAPSDPLDILIAGQFYDRVSLSVQPGPTVASGENVTLLCQSQGWMQTFLLTKE
GAADDPWRLRSTYQSQKYQAEFPMGPVTSAHAGTYRCYGSQSSKPYLLTH
PSDPLELVVS
GPSGGPSSPTTGPTSTSGPEDQPLTPTGSDPQSGLGRHLGVVIGILVAVILLLLLLLLLF
LILRHRRQGKHWTSTQRKADFQHPAGAVGPEPTDRGLQWRSSPAADAQEENLYAAVKHTQ
PEDGVEMDTRSPHDEDPQAVTYAEVKHSRPRREMASPPSPLSGEFLDTKDRQAEEDRQMD
TEAAASEAPQDVTYAQLHSLTLRREATEPPPSQEGPSPAVPSIYATLAIH
Sequence length 650
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Osteoclast differentiation
B cell receptor signaling pathway
  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Melanoma - ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute intermittent porphyria Intermittent Porphyria BEFREE 27380024
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 24854610, 29332987
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28618418
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 29295890
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 25584614, 31736877
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 29564561
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 23007163
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 26452132
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36010613 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 37686397 Associate
★☆☆☆☆
Found in Text Mining only