Leukocyte Immunoglobulin-Like Receptor, Subfamily B, Member 1

Alternative Names

  • LILRB1
  • Leukocyte Immunoglobulin-Like Receptor 1
  • LIR1
  • Immunoglobulin-Like Transcript 2
  • ILT2
  • Monocyte/Macrophage Immunoglobulin-Like Receptor 7
  • MIR7
  • CD85
  • CD85J
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OMIM Number

604811

NCBI Gene ID

10859

Uniprot ID

Q8NHL6

Length

21,701 bases

No. of Exons

17

No. of isoforms

5

Protein Name

Leukocyte immunoglobulin-like receptor subfamily B member 1

Molecular Mass

70819 Da

Amino Acid Count

650

Genomic Location

chr19:54,616,321-54,638,021

Gene Map Locus
19q13.42

Description

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 immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006669.6:c.997G>TLebanonNC_000019.10:g.54633054G>TUncertain SignificanceFamilial Mediterranean FeverNM_006669.6:c.997G>T; NP_006660.4:p.Gly333Cys201421803
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