Human Gene LAIR1 (uc002qfk.1) Description and Page Index
  Description: Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.
RefSeq Summary (NM_002287): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:54,865,235-54,876,721 Size: 11,487 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr19:54,866,877-54,876,411 Size: 9,535 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:54,865,235-54,876,721)mRNA (may differ from genome)Protein (287 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: LAIR1_HUMAN
DESCRIPTION: RecName: Full=Leukocyte-associated immunoglobulin-like receptor 1; Short=LAIR-1; Short=hLAIR1; AltName: CD_antigen=CD305; Flags: Precursor;
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. Down-regulates also 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: Interacts with SH2 domains of tyrosine-protein phosphatases PTPN6 and PTPN11. The interaction with PTPN6 is constitutive. Interacts with the SH2 domain of CSK.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
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.
DEVELOPMENTAL STAGE: Complete loss of expression when naive B- cells proliferates and differentiates into Ig-producing plasma cells under in vitro stimulation.
INDUCTION: By T-cell receptor stimulation in a process that requires p38 MAP kinase and ERK signaling.
DOMAIN: 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.
PTM: Phosphorylation at Tyr-251 and Tyr-281 activates it. May be phosphorylated by LCK.
PTM: N-glycosylated.
SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain.

-  MalaCards Disease Associations
  MalaCards Gene Search: LAIR1
Diseases sorted by gene-association score: chronic active epstein-barr virus infection (19), palindromic rheumatism (1)

-  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: 24.13 RPKM in Spleen
Total median expression: 155.49 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 -111.60310-0.360 Picture PostScript Text
3' UTR -554.021642-0.337 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
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub

Pfam Domains:
PF13895 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3KGR
- X-ray MuPIT

3RP1
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q6GTX8
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0002250 adaptive immune response
GO:0002376 immune system process
GO:0043312 neutrophil degranulation
GO:0050776 regulation of immune response

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035579 specific granule membrane
GO:0070821 tertiary granule membrane


-  Descriptions from all associated GenBank mRNAs
  MF280840 - Homo sapiens isolate MGQ4-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280878 - Homo sapiens isolate MGQ16-VH immunoglobulin heavy chain variable region mRNA, partial cds.
AK097869 - Homo sapiens cDNA FLJ40550 fis, clone THYMU2002147, highly similar to Homo sapiens leukocyte-associated Ig-like receptor 1 (LAIR1), transcript variant a, mRNA.
JD050278 - Sequence 31302 from Patent EP1572962.
AF013249 - Homo sapiens leukocyte-associated Ig-like receptor-1 (LAIR-1) mRNA, complete cds.
JD228743 - Sequence 209767 from Patent EP1572962.
AK093559 - Homo sapiens cDNA FLJ36240 fis, clone THYMU2001515, weakly similar to Homo sapiens leukocyte-associated Ig-like receptor-1 (LAIR-1) mRNA.
JD100361 - Sequence 81385 from Patent EP1572962.
BC027899 - Homo sapiens leukocyte-associated immunoglobulin-like receptor 1, mRNA (cDNA clone MGC:34218 IMAGE:5228732), complete cds.
AF109683 - Homo sapiens leukocyte-associated Ig-like receptor 1b mRNA, complete cds.
JD116491 - Sequence 97515 from Patent EP1572962.
JD071445 - Sequence 52469 from Patent EP1572962.
JD173198 - Sequence 154222 from Patent EP1572962.
AK303261 - Homo sapiens cDNA FLJ58657 complete cds, highly similar to Homo sapiens leukocyte-associated Ig-like receptor 1 (LAIR1), transcript variant a, mRNA.
JD149757 - Sequence 130781 from Patent EP1572962.
JD306790 - Sequence 287814 from Patent EP1572962.
JD375678 - Sequence 356702 from Patent EP1572962.
JD177255 - Sequence 158279 from Patent EP1572962.
JD257981 - Sequence 239005 from Patent EP1572962.
JD202015 - Sequence 183039 from Patent EP1572962.
JD117947 - Sequence 98971 from Patent EP1572962.
JD093819 - Sequence 74843 from Patent EP1572962.
JD103525 - Sequence 84549 from Patent EP1572962.
AK290415 - Homo sapiens cDNA FLJ78229 complete cds, highly similar to Homo sapiens leukocyte-associated Ig-like receptor-1 (LAIR-1) mRNA.
JD298136 - Sequence 279160 from Patent EP1572962.
JD096208 - Sequence 77232 from Patent EP1572962.
JD255421 - Sequence 236445 from Patent EP1572962.
AK309895 - Homo sapiens cDNA, FLJ99936.
JD164222 - Sequence 145246 from Patent EP1572962.
JD565364 - Sequence 546388 from Patent EP1572962.
JD322831 - Sequence 303855 from Patent EP1572962.
JD122440 - Sequence 103464 from Patent EP1572962.
AF251509 - Homo sapiens leukocyte-associated Ig-like receptor 1C isoform mRNA, complete cds.
AF251510 - Homo sapiens leukocyte-associated Ig-like receptor 1D isoform mRNA, complete cds.
AK315419 - Homo sapiens cDNA, FLJ96472, Homo sapiens leukocyte-associated Ig-like receptor 1 (LAIR1),transcript variant a, mRNA.
CU693316 - Synthetic construct Homo sapiens gateway clone IMAGE:100016973 5' read LAIR1 mRNA.
KJ891529 - Synthetic construct Homo sapiens clone ccsbBroadEn_00923 LAIR1 gene, encodes complete protein.
DQ892072 - Synthetic construct clone IMAGE:100004702; FLH182900.01X; RZPDo839D10140D leukocyte-associated immunoglobulin-like receptor 1 (LAIR1) gene, encodes complete protein.
DQ895266 - Synthetic construct Homo sapiens clone IMAGE:100009726; FLH182896.01L; RZPDo839D10139D leukocyte-associated immunoglobulin-like receptor 1 (LAIR1) gene, encodes complete protein.
CR542051 - Homo sapiens full open reading frame cDNA clone RZPDo834C0736D for gene LAIR1, leukocyte-associated Ig-like receptor 1; complete cds, without stopcodon.
JD316969 - Sequence 297993 from Patent EP1572962.
JD440567 - Sequence 421591 from Patent EP1572962.
JD477254 - Sequence 458278 from Patent EP1572962.
MF280846 - Homo sapiens isolate MGQ6-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280865 - Homo sapiens isolate MGQ19-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280851 - Homo sapiens isolate MGQ1-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280861 - Homo sapiens isolate MGQ14-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280915 - Homo sapiens isolate MGQ12-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280917 - Homo sapiens isolate MGQ20-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058454 - Homo sapiens isolate MGD55-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058457 - Homo sapiens isolate MGD24-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058463 - Homo sapiens isolate MGD21-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058452 - Homo sapiens isolate MGD16-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058458 - Homo sapiens isolate MGD53-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058459 - Homo sapiens isolate MGD41-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058464 - Homo sapiens isolate MGD34-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280899 - Homo sapiens isolate MGF21-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058441 - Homo sapiens isolate MGC2-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058444 - Homo sapiens isolate MGC4-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058445 - Homo sapiens isolate MGC36-VH immunoglobulin heavy chain variable region mRNA, partial cds.
KU058443 - Homo sapiens isolate MGC37-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280853 - Homo sapiens isolate MMJ16-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280877 - Homo sapiens isolate MGJ3-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280897 - Homo sapiens isolate MGM3-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280872 - Homo sapiens isolate MGB47-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280876 - Homo sapiens isolate MGB2-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280884 - Homo sapiens isolate MGB43-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280902 - Homo sapiens isolate MGM5-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280821 - Homo sapiens isolate MGJ1-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280832 - Homo sapiens isolate MGJ5-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280818 - Homo sapiens isolate MMJ25-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280826 - Homo sapiens isolate MMJ10-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280842 - Homo sapiens isolate MGJ2-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280845 - Homo sapiens isolate MMJ5-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280852 - Homo sapiens isolate MMJ7-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280870 - Homo sapiens isolate MMJ6-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280874 - Homo sapiens isolate MMJ1-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280875 - Homo sapiens isolate MMJ23-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280887 - Homo sapiens isolate MMJ2-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280906 - Homo sapiens isolate MMJ8-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280881 - Homo sapiens isolate MGM4-VH immunoglobulin heavy chain variable region mRNA, partial cds.
MF280912 - Homo sapiens isolate MGM1-VH immunoglobulin heavy chain variable region mRNA, partial cds.
JD367888 - Sequence 348912 from Patent EP1572962.
JD547531 - Sequence 528555 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6GTX8 (Reactome details) participates in the following event(s):

R-HSA-5686625 LAIR1 binds collagen
R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798747 Exocytosis of tertiary granule membrane proteins
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

-  Other Names for This Gene
  Alternate Gene Symbols: CD305, LAIR1_HUMAN, NM_002287, NP_002278, Q6GTX8
UCSC ID: uc002qfk.1
RefSeq Accession: NM_002287
Protein: Q6GTX8 (aka LAIR1_HUMAN)
CCDS: CCDS12891.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002287.3
exon count: 10CDS single in 3' UTR: no RNA size: 2816
ORF size: 864CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1928.00frame 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.