LAIR1 leukocyte associated immunoglobulin like receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAIR1provided by HGNC
Official Full Name: leukocyte associated immunoglobulin like receptor 1provided by HGNC
Primary source: HGNC:HGNC:6477
See related: Ensembl:ENSG00000167613 MIM:602992; AllianceGenome:HGNC:6477
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CD305; LAIR-1
Summary: 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. [provided by RefSeq, Jan 2014]
Expression: Broad expression in bone marrow (RPKM 19.6), appendix (RPKM 16.8) and 17 other tissues See more
Orthologs: all
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Genomic context

Location:: 19q13.42

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (54351384..54376088, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (57442896..57466925, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (54862991..54882165, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[leukocyte-associated immunoglobulin-like receptor 1 (LAIR-1) inhibits proliferation and promotes apoptosis of human HEL cells with JAK2 V617F mutation by blocking the JAK/STAT and PI3K/AKT signaling pathways].
Title: [leukocyte-associated immunoglobulin-like receptor 1 (LAIR-1) inhibits proliferation and promotes apoptosis of human HEL cells with JAK2 V617F mutation by blocking the JAK/STAT and PI3K/AKT signaling pathways].
LAIR-1 limits macrophage activation in acute inflammatory lung injury.
Title: LAIR-1 limits macrophage activation in acute inflammatory lung injury.
LAIR1 drives glioma progression by nuclear focal adhesion kinase dependent expressions of cyclin D1 and immunosuppressive chemokines/cytokines.
Title: LAIR1 drives glioma progression by nuclear focal adhesion kinase dependent expressions of cyclin D1 and immunosuppressive chemokines/cytokines.
Development and validation of a leukocyte-associated immunoglobulin-like receptor-1 prognostic signature for lower-grade gliomas.
Title: Development and validation of a leukocyte-associated immunoglobulin-like receptor-1 prognostic signature for lower-grade gliomas.
Cytotoxic T Cell Expression of Leukocyte-Associated Immunoglobulin-Like Receptor-1 (LAIR-1) in Viral Hepatitis C-Mediated Hepatocellular Carcinoma.
Title: Cytotoxic T Cell Expression of Leukocyte-Associated Immunoglobulin-Like Receptor-1 (LAIR-1) in Viral Hepatitis C-Mediated Hepatocellular Carcinoma.
Immunoregulatory complement receptor-1 and leukocyte-associated Ig-like receptor-1 expression on leukocytes in Psoriasis vulgaris.
Title: Immunoregulatory complement receptor-1 and leukocyte-associated Ig-like receptor-1 expression on leukocytes in Psoriasis vulgaris.
Structural basis of LAIR1 targeting by polymorphic Plasmodium RIFINs.
Title: Structural basis of LAIR1 targeting by polymorphic Plasmodium RIFINs.
Role and mechanism of LAIR-1 in the development of autoimmune diseases, tumors, and malaria: A review.
Title: Role and mechanism of LAIR-1 in the development of autoimmune diseases, tumors, and malaria: A review.
Leukocyte Associated Immunoglobulin Like Receptor 1 Regulation and Function on Monocytes and Dendritic Cells During Inflammation.
Title: Leukocyte Associated Immunoglobulin Like Receptor 1 Regulation and Function on Monocytes and Dendritic Cells During Inflammation.
LAIR-1 suppresses cell growth of ovarian cancer cell via the PI3K-AKT-mTOR pathway.
Title: LAIR-1 suppresses cell growth of ovarian cancer cell via the PI3K-AKT-mTOR pathway.

Submit: New GeneRIF Correction See all GeneRIFs (59)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of LAIR1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef downregulates the cell surface expression of leukocyte-associated immunoglobulin-like receptor 1 (LAIR1, CD305)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

ECD11070 (e-PCR)
- UniSTS:292106

ECD12614 (e-PCR)
- UniSTS:293647

ECD15737 (e-PCR)
- UniSTS:296753

D8S2278 (e-PCR)
- UniSTS:473906

ECD15738 (e-PCR)
- UniSTS:296754

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

REN92544 (e-PCR)
- UniSTS:417342

REN92545 (e-PCR)
- UniSTS:417343

REN92546 (e-PCR)
- UniSTS:417344

REN92547 (e-PCR)
- UniSTS:417345

ECD06235 (e-PCR)
- UniSTS:287297

REN92548 (e-PCR)
- UniSTS:417346

REN92549 (e-PCR)
- UniSTS:417347

REN92550 (e-PCR)
- UniSTS:417348

REN92551 (e-PCR)
- UniSTS:417349

REN92552 (e-PCR)
- UniSTS:417350

ECD09589 (e-PCR)
- UniSTS:290630

REN92553 (e-PCR)
- UniSTS:417351

REN92554 (e-PCR)
- UniSTS:417352

ECD19868 (e-PCR)
- UniSTS:300872

REN92555 (e-PCR)
- UniSTS:417353

REN92556 (e-PCR)
- UniSTS:417354

REN92557 (e-PCR)
- UniSTS:417355

REN92558 (e-PCR)
- UniSTS:417356

ECD23476 (e-PCR)
- UniSTS:304460

REN92559 (e-PCR)
- UniSTS:417357

REN92560 (e-PCR)
- UniSTS:417358

REN92561 (e-PCR)
- UniSTS:417359

REN92562 (e-PCR)
- UniSTS:417360

REN92563 (e-PCR)
- UniSTS:417361

REN92564 (e-PCR)
- UniSTS:417362

REN92565 (e-PCR)
- UniSTS:417363

REN92566 (e-PCR)
- UniSTS:417364

REN92567 (e-PCR)
- UniSTS:417365

REN92568 (e-PCR)
- UniSTS:417366

REN92569 (e-PCR)
- UniSTS:417367

REN92570 (e-PCR)
- UniSTS:417368

REN92571 (e-PCR)
- UniSTS:417369

REN92572 (e-PCR)
- UniSTS:417370

REN92573 (e-PCR)
- UniSTS:417371

ECD22978 (e-PCR)
- UniSTS:303963

REN92574 (e-PCR)
- UniSTS:417372

REN92575 (e-PCR)
- UniSTS:417373

REN92576 (e-PCR)
- UniSTS:417374

REN92577 (e-PCR)
- UniSTS:417375

REN92578 (e-PCR)
- UniSTS:417376

REN92579 (e-PCR)
- UniSTS:417377

REN92580 (e-PCR)
- UniSTS:417378

REN92581 (e-PCR)
- UniSTS:417379

REN92582 (e-PCR)
- UniSTS:417380

ECD10389 (e-PCR)
- UniSTS:291428

REN92583 (e-PCR)
- UniSTS:417381

REN92584 (e-PCR)
- UniSTS:417382

REN92585 (e-PCR)
- UniSTS:417383

REN92586 (e-PCR)
- UniSTS:417384

stSG605999 (e-PCR)
- UniSTS:448104

REN92587 (e-PCR)
- UniSTS:417385

stSG606000 (e-PCR)
- UniSTS:448105

REN92588 (e-PCR)
- UniSTS:417386

REN93100 (e-PCR)
- UniSTS:417898

ECD08338 (e-PCR)
- UniSTS:289386

REN92589 (e-PCR)
- UniSTS:417387

REN92590 (e-PCR)
- UniSTS:417388

REN92591 (e-PCR)
- UniSTS:417389

REN93103 (e-PCR)
- UniSTS:417901

REN92592 (e-PCR)
- UniSTS:417390

REN93104 (e-PCR)
- UniSTS:417902

REN93111 (e-PCR)
- UniSTS:417909

ECD05776 (e-PCR)
- UniSTS:286838

REN92604 (e-PCR)
- UniSTS:417402

REN93117 (e-PCR)
- UniSTS:417915

REN93119 (e-PCR)
- UniSTS:417917

ECD22499 (e-PCR)
- UniSTS:303485

REN93123 (e-PCR)
- UniSTS:417921

REN93126 (e-PCR)
- UniSTS:417924

REN93127 (e-PCR)
- UniSTS:417925

ECD06304 (e-PCR)
- UniSTS:287366

ECD08649 (e-PCR)
- UniSTS:289697

ECD07381 (e-PCR)
- UniSTS:288436

ECD11533 (e-PCR)
- UniSTS:292569

ECD06655 (e-PCR)
- UniSTS:287715

ECD08981 (e-PCR)
- UniSTS:290027

ECD03319 (e-PCR)
- UniSTS:284404

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in immune response-regulating signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: leukocyte-associated immunoglobulin-like receptor 1

Names: immunoglobulin heavy chain variable region; leukocyte-associated Ig-like receptor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001289023.3 → NP_001275952.2 leukocyte-associated immunoglobulin-like receptor 1 isoform c precursor

Status: REVIEWED

Description

Transcript Variant: This variant (c) lacks an in-frame exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.

Source sequence(s)

AC245884, AF013249, AK315419, DC389365

Consensus CDS

CCDS74448.1

UniProtKB/TrEMBL

A0A0G2JP18, A0A0G2JQ50

Related

ENSP00000418998.1, ENST00000474878.5

Conserved Domains (1) summary

cl11960
Location:26 → 119

Ig; Immunoglobulin domain
NM_001289025.3 → NP_001275954.2 leukocyte-associated immunoglobulin-like receptor 1 isoform e precursor

Status: REVIEWED

Description

Transcript Variant: This variant (e) uses an alternate in-frame splice site in the central coding region. The encoded isoform (e) is shorter, compared to isoform a.

Source sequence(s)

AC245884, AF013249, AK315419, DC389365

Consensus CDS

CCDS74449.1

UniProtKB/TrEMBL

A0A0G2JP18, D3YTC8

Related

ENSP00000391003.2, ENST00000434277.6

Conserved Domains (1) summary

cl11960
Location:26 → 119

Ig; Immunoglobulin domain
NM_001289026.3 → NP_001275955.2 leukocyte-associated immunoglobulin-like receptor 1 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (f) differs in the 5' UTR, lacks part of the 5' coding region, and uses an alternate start codon, compared to variant a. The encoded isoform (f) has a shorter and distinct N-terminus, compared to isoform a.

Source sequence(s)

AC245884, AK303261, DA941174, DC389365

UniProtKB/TrEMBL

A0A0G2JNU6

Conserved Domains (1) summary

cl11960
Location:20 → 113

Ig; Immunoglobulin domain
NM_001289027.3 → NP_001275956.2 leukocyte-associated immunoglobulin-like receptor 1 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (g) differs in the 5' UTR, lacks part of the 5' coding region, and uses an alternate start codon, compared to variant a. The encoded isoform (g) has a shorter and distinct N-terminus, compared to isoform a.

Source sequence(s)

AC245884, AK303261, DA941174, DC390481

Consensus CDS

CCDS74450.1

UniProtKB/TrEMBL

A0A0G2JNU6, A8MZ84

Related

ENSP00000375623.3, ENST00000391743.7

Conserved Domains (1) summary

cl11960
Location:9 → 102

Ig; Immunoglobulin domain
NM_002287.6 → NP_002278.2 leukocyte-associated immunoglobulin-like receptor 1 isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (a) encodes the longest isoform (a).

Source sequence(s)

AC245884, AF013249, AK315419, DC389365

Consensus CDS

CCDS12891.1

UniProtKB/Swiss-Prot

Q6GTX8

UniProtKB/TrEMBL

A0A0G2JLV7, A0A0G2JP18

Related

ENSP00000375622.2, ENST00000391742.7

Conserved Domains (1) summary

cl11960
Location:27 → 120

Ig; Immunoglobulin domain
NM_021706.5 → NP_068352.2 leukocyte-associated immunoglobulin-like receptor 1 isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (b) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter, compared to isoform a.

Source sequence(s)

AC245884, AF013249, AK315419, DC389365

Consensus CDS

CCDS12892.1

UniProtKB/TrEMBL

A0A0G2JLV7

Related

ENSP00000301193.4, ENST00000348231.8

Conserved Domains (1) summary

cl11960
Location:27 → 120

Ig; Immunoglobulin domain

RNA

NR_110279.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (h) uses an alternate splice site at an internal exon, compared to variant a. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC245884, AF013249, AK315419, DC389365
NR_110280.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (i) uses three alternate splice sites at internal exons, compared to variant a. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC245884, AF013249, BM918573, DB134342, DC391314

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

54351384..54376088 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438811.1 → XP_047294767.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X1
XM_047438812.1 → XP_047294768.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X2

UniProtKB/TrEMBL

A8MZ84
XM_047438810.1 → XP_047294766.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X1
XM_017026803.3 → XP_016882292.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X3

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

332788..356820 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330173.1 → XP_054186148.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X2

UniProtKB/TrEMBL

A0A0G2JNK8
XM_054330172.1 → XP_054186147.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X1
XM_054330171.1 → XP_054186146.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X4
XM_054330176.1 → XP_054186151.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X6
XM_054330175.1 → XP_054186150.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X5
XM_054330174.1 → XP_054186149.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X3

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

Range

233996..275209 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

Range

333344..357374 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333549.1 → XP_054189524.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X8
XM_054333548.1 → XP_054189523.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X2

UniProtKB/TrEMBL

A0A0G2JMI0
XM_054333547.1 → XP_054189522.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X1

UniProtKB/TrEMBL

A0A140T8W3
XM_054333546.1 → XP_054189521.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X7
XM_054333552.1 → XP_054189527.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X11
XM_054333551.1 → XP_054189526.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X10
XM_054333550.1 → XP_054189525.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X9

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

Range

334105..358134 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333650.1 → XP_054189625.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X2

UniProtKB/TrEMBL

A0A0G2JMI0
XM_054333649.1 → XP_054189624.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X1

UniProtKB/TrEMBL

A0A140T8W3
XM_054333648.1 → XP_054189623.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X12
XM_054333652.1 → XP_054189627.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X13
XM_054333651.1 → XP_054189626.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

57442896..57466925 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320984.1 → XP_054176959.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X16
XM_054320982.1 → XP_054176957.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X2

UniProtKB/TrEMBL

A0A0G2JMI0
XM_054320981.1 → XP_054176956.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X1

UniProtKB/TrEMBL

A0A140T8W3
XM_054320983.1 → XP_054176958.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X15
XM_054320980.1 → XP_054176955.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X14
XM_054320987.1 → XP_054176962.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X18
XM_054320986.1 → XP_054176961.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X17
XM_054320985.1 → XP_054176960.1 leukocyte-associated immunoglobulin-like receptor 1 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_021708.1: Suppressed sequence

Description

NM_021708.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.