LAIR1

Summary

LAIR1 (leukocyte associated immunoglobulin like receptor 1, HGNC:6477) is a protein-coding gene on chromosome 19q13.42, encoding Leukocyte-associated immunoglobulin-like receptor 1 (Q6GTX8). Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells.

The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 3903 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 74 total
• MANE Select transcript: NM_002287

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6477
Approved symbol	LAIR1
Name	leukocyte associated immunoglobulin like receptor 1
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	CD305, LAIR-1
Ensembl gene	ENSG00000167613
Ensembl biotype	protein_coding
OMIM	602992
Entrez	3903

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 11 protein_coding, 7 protein_coding_CDS_not_defined, 5 retained_intron, 4 nonsense_mediated_decay

ENST00000348231, ENST00000391741, ENST00000391742, ENST00000391743, ENST00000418556, ENST00000420483, ENST00000423853, ENST00000427131, ENST00000434277, ENST00000436513, ENST00000438193, ENST00000440716, ENST00000460312, ENST00000463489, ENST00000467269, ENST00000468656, ENST00000474878, ENST00000475389, ENST00000480122, ENST00000484116, ENST00000498511, ENST00000596835, ENST00000622064, ENST00000881593, ENST00000963902, ENST00000963903, ENST00000963904

RefSeq mRNA: 6 — MANE Select: NM_002287 NM_001289023, NM_001289025, NM_001289026, NM_001289027, NM_002287, NM_021706

CCDS: CCDS12891, CCDS12892, CCDS74448, CCDS74449, CCDS74450

Canonical transcript exons

ENST00000391742 — 10 exons

Exon	Start	End
ENSE00003469808	54356356	54356398
ENSE00003511589	54356928	54356966
ENSE00003530522	54356491	54356619
ENSE00003554448	54360916	54361209
ENSE00003592973	54355954	54356006
ENSE00003638236	54356230	54356267
ENSE00003652454	54364295	54364330
ENSE00003681272	54360022	54360072
ENSE00003715831	54364771	54364931
ENSE00003752741	54351384	54355414

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 98.25.

FANTOM5 (CAGE): breadth broad, TPM avg 21.6759 / max 446.1305, expressed in 556 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182636	9.1666	508
182635	5.7479	482
182634	3.4338	438
182637	1.2797	301
182639	1.1495	266
182640	0.5889	191
182641	0.1442	73
182638	0.0908	50
182633	0.0506	22
182642	0.0240	7

Top tissues by expression

132 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.25	gold quality
vermiform appendix	UBERON:0001154	97.52	gold quality
leukocyte	CL:0000738	96.58	gold quality
monocyte	CL:0000576	96.55	gold quality
spleen	UBERON:0002106	95.93	gold quality
blood	UBERON:0000178	95.82	gold quality
lymph node	UBERON:0000029	95.51	gold quality
bone marrow	UBERON:0002371	95.23	gold quality
right lung	UBERON:0002167	93.54	gold quality
placenta	UBERON:0001987	93.19	gold quality
upper lobe of left lung	UBERON:0008952	93.01	gold quality
bone marrow cell	CL:0002092	92.77	gold quality
right coronary artery	UBERON:0001625	91.65	gold quality
gall bladder	UBERON:0002110	91.04	gold quality
lung	UBERON:0002048	89.59	gold quality
omental fat pad	UBERON:0010414	89.37	gold quality
adipose tissue	UBERON:0001013	89.16	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.45	gold quality
duodenum	UBERON:0002114	88.10	gold quality
right adrenal gland cortex	UBERON:0035827	87.64	gold quality
right adrenal gland	UBERON:0001233	87.46	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.42	gold quality
smooth muscle tissue	UBERON:0001135	87.33	gold quality
left adrenal gland	UBERON:0001234	87.29	gold quality
small intestine	UBERON:0002108	87.03	gold quality
left adrenal gland cortex	UBERON:0035825	86.99	gold quality
descending thoracic aorta	UBERON:0002345	86.19	gold quality
rectum	UBERON:0001052	85.95	gold quality
left coronary artery	UBERON:0001626	85.92	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	23.18
E-ANND-3	yes	13.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

62 targeting LAIR1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-4774-3P	98.90	67.82	737
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-455-5P	98.74	67.31	795

Literature-anchored findings (GeneRIF, showing 40)

• LAIR-1 exerts inhibitory functions on antigen-specific effector T cells (PMID:12072189)
• NK cells derived from a boy with CAEBV showed decreased cytotoxic function and impaired IFN-gamma secretion. In addition, the NK cells lacked expression of the broadly expressed NK receptor, LAIR-1. (PMID:12757266)
• structure and role of LAIR (review) (PMID:15065762)
• Collagens are functional ligands for LAIR-1 and directly inhibit immune cell activation in vitro. (PMID:16754721)
• Regulated expression of LAIR-1 and the subsequent change in the threshold for activation may be a mechanism to modulate inhibition of the immune system. (PMID:17330824)
• in cell lines, LAIR-1, which is not expressed on platelets but is present on most hematopoietic cells, inhibits GPVI responses to collagen but not convulxin (PMID:17764536)
• A receptor that potentially is able to regulate multiple steps of an immune response.[REVIEW] (PMID:18063695)
• LAIR-2 prevents binding of human LAIR-1 to collagens and LAIR-1 cross-linking in vitro, suggesting that the protein has an immunoregulatory function in vivo. (PMID:18209062)
• both constitutive and sIgM-induced phosphorylation of p38 and JNK is inhibited by LAIR-1 through an ITIM-dependent signal; this inhibitory signal is missing when LAIR-1 is not expressed as occurs in HR CLL. (PMID:18288129)
• The expression of LAIR-1 is up-regulated in tumor patients, which may contribute to cancer immune escape. (PMID:18394348)
• Human collagen II peptides II-17, -30 and -56 and collagen III peptides III-1, -30, -38, -44, -45, and -51 specifically interacted with hLAIR-1 expressed on K562 cells. (PMID:19345263)
• Mutation of a single residue, arginine 65, dramatically decreases the binding of LAIR-1 to collagens. (PMID:19380792)
• unanticipated mechanism of collagen recognition common to LAIR-1 and GPVI (PMID:20007810)
• Studies indicate that Megakaryocyte maturation is accompanied by up-regulation of glycoprotein VI and down-regulation of leukocyte-associated immunoglobulin-like receptor-1. (PMID:20713462)
• Data show that pDCs isolated from peripheral blood of systemic lupus erithematosus (SLE) patients express lower levels of LAIR-1 while displaying slight but consistent expression of NKp44. (PMID:21151495)
• These results suggest that LAIR-1 is a likely candidate for an early marker of megakaryocytes differentiation, and provide initial evidence indicating that LAIR-1 serves as a negative regulator of megakaryocytopoiesis. (PMID:21216234)
• tumor-expressed collagens can bind and trigger immune inhibitory signaling via LAIR-1, suggesting that collagens indeed may affect tumor immune evasion. (PMID:21955987)
• Loss of LAIR-1 function is associated with systemic lupus erythematosus (PMID:22355402)
• C1q is a functional ligand for LAIR-1 restricting immune cell differentiation and activation. (PMID:23093673)
• differential role in T-cells and macrophages in patients with rheumatoid arthritis (PMID:24380839)
• positive association between concentrations of amniotic fluid sLAIR-1 and neonatal lung compliance (PMID:24386309)
• The expression of LAIR -1 on pDCs of juvenile systemic lupus erythematosus patients was significantly lower than that of control patients. (PMID:24399813)
• LAIR1 expression is a reliable and inexpensive marker capable of independently predicting time to first treatment in newly diagnosed unselected patients with chronic lymphocytic leukemia. (PMID:24415628)
• a novel pathway for the immunomodulatory functions of SP-D mediated via binding of its collagenous domains to LAIR-1. (PMID:24585933)
• LAIR-1 may play an important role in immune imbalance in children with immune thrombocytopenia. (PMID:24750832)
• C1q-mediated repression of human monocytes is regulated by LAIR-1 (PMID:25247291)
• These data suggest that LAIR-1 has a relevant impact on EOC progression and may be helpful for a better understanding of molecular pathogenesis of cancer. (PMID:25660999)
• The LAIR1-SHP-1-CAMK1-CREB pathway sustains the survival and self-renewal of AML stem cells. (PMID:25915125)
• A LAIR1 insertion generates broadly reactive antibodies against malaria variant antigens;findings illustrate, with a biologically relevant example, a novel mechanism of antibody diversification by interchromosomal DNA transposition (PMID:26700814)
• We suggest that LAIR1 and LAIR2 genetic variants are associated with regulation of gene expression and variable pemphigus foliaceus susceptibility, and show indirect association of LAIR2 differential mRNA expression with pemphigus foliaceus pathogenesis. (PMID:26721477)
• These findings demonstrate that C1q and it’s globular region interact with CD33 to activate its inhibitory motifs, while the collagen-like region does not. Whole C1q is required to crosslink CD33 and LAIR-1 and concurrently activate CD33/LAIR-1 inhibitory motifs. (PMID:28325905)
• Human decidua mesenchymal stem cells may modulate the function of decidual natural killer cells via the interaction between collagen and LAIR1. (PMID:28677766)
• LAIR-1 limits neutrophil extracellular trap formation in viral bronchiolitis. (PMID:29050972)
• LAIR1 is used for immune evasion of Plasmodium falciparum by associating with RIFIN. (PMID:29186116)
• results suggest that P. falciparum has acquired multiple RIFINs to evade the host immune system by targeting immune inhibitory receptors, as LAIR1 and LILRB1 (PMID:29186116)
• LAIR-1 expression on monocytes and neutrophils is increased in the acute phase after myocardial infarction in patients (PMID:29269840)
• LAIR-1 may be an important factor involved in the mediation of the progressive joint destruction in rheumatoid arthritis. (PMID:29328500)
• High LAIR-1 expression is associated with hepatocellular carcinoma. (PMID:29776595)
• Data show that leukocyte-associated Ig-like receptor-1 (LAIR-1) was highly expressed in THP-1 macrophages. (PMID:29887420)
• LAIR1 was significantly upregulated in clinical specimens of human renal cell carcinoma (RCC) tumor tissues compared to that noted in adjacent noncancerous renal tissues. RCC patients with high LAIR1 mRNA expression showed poor progressionfree survival compared to those with low LAIR1 expression. (PMID:30483814)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Lair1	ENSMUSG00000055541
rattus_norvegicus	Lair1	ENSRNOG00000027733

Protein

Protein identifiers

Leukocyte-associated immunoglobulin-like receptor 1 — Q6GTX8 (reviewed: Q6GTX8)

All UniProt accessions (8): A0A087X137, A8MZ84, C9IZB2, D3YTC8, Q6GTX8, F2Z3B9, F8WC07, W4VSQ5

UniProt curated annotations — full annotation on UniProt →

Function. Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Also down-regulates IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells.

Subunit / interactions. Interacts with SH2 domains of tyrosine-protein phosphatases PTPN6 and PTPN11. The interaction with PTPN6 is constitutive. Interacts with the SH2 domain of CSK. Binds with high affinity to extracellular matrix collagens, the interaction is functionally important.

Subcellular location. Cell membrane.

Tissue specificity. Expressed on the majority of peripheral mononuclear cells, including natural killer (NK) cells, T-cells, B-cells, monocytes, and dendritic cells. Highly expressed in naive T-cells and B-cells but no expression on germinal center B-cells. Abnormally low expression in naive B-cells from HIV-1 infected patients. Very low expression in NK cells from a patient with chronic active Epstein-Barr virus infection.

Post-translational modifications. Phosphorylation at Tyr-251 and Tyr-281 activates it. May be phosphorylated by LCK. N-glycosylated.

Domain organisation. ITIM (immunoreceptor tyrosine-based inhibitor motif) motif is a cytoplasmic motif present in 2 copies in the intracellular part of LAIR1. When phosphorylated, ITIM motif can bind the SH2 domain of several SH2-containing phosphatases, leading to down-regulation of cell activation.

Induction. By T-cell receptor stimulation in a process that requires p38 MAP kinase and ERK signaling.

Miscellaneous. Functions as an inhibitory receptor in NK cells and T-cells.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6GTX8-1	1, LAIR-1a	yes
Q6GTX8-2	2, LAIR-1b
Q6GTX8-3	3, LAIR-1c
Q6GTX8-4	4, LAIR-1d

RefSeq proteins (6): NP_001275952, NP_001275954, NP_001275955, NP_001275956, NP_002278, NP_068352 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050412	Ig-like_Receptors_ImmuneReg	Family

Pfam: PF13895

UniProt features (36 total): strand 9, sequence variant 4, splice variant 3, compositionally biased region 2, modified residue 2, topological domain 2, mutagenesis site 2, helix 2, region of interest 2, short sequence motif 2, signal peptide 1, chain 1, glycosylation site 1, disulfide bond 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
3KGR	X-RAY DIFFRACTION	1.8
3RP1	X-RAY DIFFRACTION	2.6
7F9L	X-RAY DIFFRACTION	2.7
7F9M	X-RAY DIFFRACTION	2.9
7F9N	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6GTX8-F1	72.15	0.39

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 251, 281

Disulfide bonds (1): 49–101

Glycosylation sites (1): 69

Mutagenesis-validated functional residues (2):

Position	Phenotype
251	reduced tyrosine phosphorylation and loss of binding to ptpn6 and csk as well as complete loss of inhibitory activity. l
281	reduced tyrosine phosphorylation and loss of binding to ptpn6. partial inhibition of cytotoxic activity.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-6798695	Neutrophil degranulation
R-HSA-1280218	Adaptive Immune System
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 272 (showing top): MODULE_52, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, MODULE_45, MODULE_16, MODULE_118, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_ADAPTIVE_IMMUNE_RESPONSE, MORF_RAP1A, MODULE_88, PU1_Q6, MODULE_18, MODULE_60

GO Biological Process (3): adaptive immune response (GO:0002250), immune response-regulating signaling pathway (GO:0002764), immune system process (GO:0002376)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), specific granule membrane (GO:0035579), tertiary granule membrane (GO:0070821), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Immune System	2
Adaptive Immune System	1
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
secretory granule membrane	2
immune response	1
signal transduction	1
regulation of immune response	1
biological_process	1
binding	1
membrane	1
cell periphery	1
specific granule	1
tertiary granule	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1348 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LAIR1	SFTPD	P35247	959
LAIR1	PTPN11	Q06124	873
LAIR1	PILRA	Q9UKJ1	825
LAIR1	PILRB	Q9UKJ0	763
LAIR1	PTPN6	P29350	693
LAIR1	KLRC1	P26715	686
LAIR1	CSK	P41240	664
LAIR1	FCER1G	P30273	663
LAIR1	LENG8	Q96PV6	560
LAIR1	C1QBP	Q07021	555
LAIR1	COL17A1	Q9UMD9	554
LAIR1	CLEC2D	Q9UHP7	551
LAIR1	MPIG6B	O95866	541
LAIR1	CD8A	P01732	537
LAIR1	LILRA4	P59901	533
LAIR1	CD300C	Q08708	533

IntAct

13 interactions, top by confidence:

A	B	Type	Score
PTPN6	LAIR1	psi-mi:“MI:0914”(association)	0.610
PTPN6	LAIR1	psi-mi:“MI:0915”(physical association)	0.610
LAIR2	LAMA5	psi-mi:“MI:0914”(association)	0.530
LILRB4	LAIR1	psi-mi:“MI:0407”(direct interaction)	0.440
LAIR1	LAIR1	psi-mi:“MI:0915”(physical association)	0.400
FGFR4	LAIR1	psi-mi:“MI:0915”(physical association)	0.400
CSK	LAIR1	psi-mi:“MI:0915”(physical association)	0.370
LAIR1	H3-7	psi-mi:“MI:0914”(association)	0.350
CD33	LAIR1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (18): PTPN6 (Affinity Capture-Western), LAIR1 (Two-hybrid), LAIR1 (Affinity Capture-Western), PTPN11 (Affinity Capture-Western), PTPN6 (Affinity Capture-Western), PTPN6 (Affinity Capture-Western), PTPN11 (Affinity Capture-Western), LAIR1 (Two-hybrid), LAIR1 (Affinity Capture-Western), PTPN6 (Affinity Capture-Western), LAIR1 (Reconstituted Complex), FAM207A (Affinity Capture-MS), ABCC2 (Affinity Capture-MS), HIST2H3PS2 (Affinity Capture-MS), COL1A1 (Reconstituted Complex)

ESM2 similar proteins: A0A0K2S4Q6, A2A7V7, A6NI73, A8K4G0, O43699, O75019, O75022, O75023, O75871, O76036, P0C191, P20138, P24071, P40198, P59901, P80943, Q08708, Q13410, Q28110, Q3U497, Q496F6, Q64JA4, Q6GTX8, Q6ISS4, Q6PI73, Q6UXZ3, Q7TSN2, Q863H2, Q8C567, Q8K249, Q8MJZ2, Q8MJZ7, Q8N149, Q8N423, Q8N6C8, Q8NHJ6, Q8NHL6, Q8VBT3, Q8VCH2, Q95JB9

Diamond homologs: A0A0G2KBC9, A6NI73, C0HJX2, C0HJX3, D3ZQX2, O75019, O75022, O75023, O76036, P0C191, P24071, P43626, P43629, P43630, P59901, P83556, P97484, Q14943, Q14954, Q61450, Q64281, Q6GTX8, Q6ISS4, Q6PI73, Q7TQA1, Q863H2, Q8C567, Q8IYS5, Q8MJZ2, Q8MJZ7, Q8N109, Q8N149, Q8N423, Q8N6C8, Q8N743, Q8NHJ6, Q8NHK3, Q8NHL6, Q95JB9, Q9HCN6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

74 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1712 predictions. Top by Δscore:

Variant	Effect	Δscore
19:54356002:CTTGT:C	acceptor_gain	1.0000
19:54356007:C:CC	acceptor_gain	1.0000
19:54356008:T:C	acceptor_gain	1.0000
19:54356008:T:TC	acceptor_gain	1.0000
19:54356399:C:CC	acceptor_gain	1.0000
19:54356399:CTAAG:C	acceptor_loss	1.0000
19:54356400:T:G	acceptor_loss	1.0000
19:54356486:CCTA:C	donor_loss	1.0000
19:54356487:CTA:C	donor_loss	1.0000
19:54356488:TACC:T	donor_loss	1.0000
19:54356489:A:AC	donor_gain	1.0000
19:54356489:A:C	donor_loss	1.0000
19:54356489:AC:A	donor_gain	1.0000
19:54356489:ACC:A	donor_gain	1.0000
19:54356490:C:CC	donor_gain	1.0000
19:54356490:CC:C	donor_gain	1.0000
19:54356490:CCC:C	donor_gain	1.0000
19:54356490:CCCT:C	donor_gain	1.0000
19:54356490:CCCTG:C	donor_gain	1.0000
19:54356500:T:C	donor_gain	1.0000
19:54356615:TGCAT:T	acceptor_gain	1.0000
19:54356616:GCAT:G	acceptor_gain	1.0000
19:54356617:CAT:C	acceptor_gain	1.0000
19:54356617:CATC:C	acceptor_gain	1.0000
19:54356618:AT:A	acceptor_gain	1.0000
19:54356618:ATCT:A	acceptor_gain	1.0000
19:54356618:ATCTA:A	acceptor_loss	1.0000
19:54356620:C:CC	acceptor_gain	1.0000
19:54356621:T:C	acceptor_loss	1.0000
19:54356926:A:AC	donor_gain	1.0000

AlphaMissense

1845 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000093839 (19:54365825 C>T), RS1000096210 (19:54266772 A>G), RS1000097651 (19:54274253 A>G), RS1000127728 (19:54366570 C>G,T), RS1000146034 (19:54365928 G>A), RS1000244294 (19:54366678 C>T), RS1000282184 (19:54352749 T>C,G), RS1000381319 (19:54375457 G>A,C), RS1000390963 (19:54366361 T>C), RS1000397207 (19:54268184 C>G,T), RS1000536963 (19:54262742 A>G), RS1000576961 (19:54357085 C>T), RS1000698791 (19:54268372 A>G), RS1000717025 (19:54374569 A>C), RS1000755976 (19:54262590 A>G,T)

Disease associations

OMIM: gene MIM:602992 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — CD molecules

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression, affects methylation	4
bisphenol A	increases expression, affects cotreatment, increases methylation	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Nickel	decreases expression, increases expression	2
GSK-J4	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
terbufos	increases methylation	1
sodium bichromate	decreases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
di-n-butylphosphoric acid	affects expression	1
Am 580	increases expression	1
chloropicrin	affects expression	1
bisphenol S	increases expression	1
gardiquimod	increases expression, decreases reaction	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Rosiglitazone	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Atrazine	increases expression	1
Cannabidiol	increases expression, affects reaction, decreases phosphorylation	1
Carmustine	increases expression	1
Fonofos	increases methylation	1
Lead	decreases expression	1
Ozone	increases abundance, affects expression	1
Parathion	increases methylation	1
Tretinoin	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B7XX	Abcam Raji LAIR1 KO	Cancer cell line	Male
CVCL_B9YM	Abcam THP-1 LAIR1 KO	Cancer cell line	Male
CVCL_C7AE	Abcam PC-3 LAIR1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.