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PILRA paired immunoglobin like type 2 receptor alpha [ Homo sapiens (human) ]

Gene ID: 29992, updated on 13-Mar-2020

Summary

Official Symbol
PILRAprovided by HGNC
Official Full Name
paired immunoglobin like type 2 receptor alphaprovided by HGNC
Primary source
HGNC:HGNC:20396
See related
Ensembl:ENSG00000085514 MIM:605341
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
FDF03
Summary
Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]
Expression
Broad expression in appendix (RPKM 17.4), spleen (RPKM 11.8) and 23 other tissues See more
Orthologs

Genomic context

See PILRA in Genome Data Viewer
Location:
7q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100372659..100400098)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99971068..99997722)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene STAG3L5P-PVRIG2P-PILRB readthrough Neighboring gene microRNA 6840 Neighboring gene paired immunoglobin like type 2 receptor beta Neighboring gene zinc finger CW-type and PWWP domain containing 1 Neighboring gene PPP1R35 antisense RNA 1 Neighboring gene methylphosphate capping enzyme Neighboring gene protein phosphatase 1 regulatory subunit 35

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC class I protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
regulation of immune response TAS
Traceable Author Statement
more info
 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
paired immunoglobulin-like type 2 receptor alpha
Names
cell surface receptor FDF03
inhibitory receptor PILR-alpha

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029837.1 RefSeqGene

    Range
    5043..31652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_013439.3NP_038467.2  paired immunoglobulin-like type 2 receptor alpha isoform 1 precursor

    See identical proteins and their annotated locations for NP_038467.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC005071
    Consensus CDS
    CCDS5691.1
    UniProtKB/Swiss-Prot
    Q9UKJ1
    Related
    ENSP00000198536.2, ENST00000198536.7
    Conserved Domains (1) summary
    cl11960
    Location:33150
    Ig; Immunoglobulin domain
  2. NM_178272.2NP_840056.1  paired immunoglobulin-like type 2 receptor alpha isoform 2 precursor

    See identical proteins and their annotated locations for NP_840056.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a coding exon, compared to variant 1, resulting in a protein (isoform 2) with a missing internal segment, compared to isoform 1. Isoform 2 is thought to be a soluble protein, since it lacks the transmembrane domain found in isoform 1.
    Source sequence(s)
    AC005071
    Consensus CDS
    CCDS5692.1
    UniProtKB/Swiss-Prot
    Q9UKJ1
    Related
    ENSP00000340109.2, ENST00000350573.2
    Conserved Domains (2) summary
    smart00410
    Location:38128
    IG_like; Immunoglobulin like
    cl11960
    Location:33150
    Ig; Immunoglobulin domain
  3. NM_178273.2NP_840057.1  paired immunoglobulin-like type 2 receptor alpha isoform 3 precursor

    See identical proteins and their annotated locations for NP_840057.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two internal coding exons, compared to variant 1, which causes a frameshift and results in the shortest isoform (3) that has a distinct C-terminus, compared to isoform 1. Isoform 3 is thought to be a soluble protein, since it lacks the transmembrane domain found in isoform 1.
    Source sequence(s)
    AC005071
    Consensus CDS
    CCDS47660.1
    UniProtKB/Swiss-Prot
    Q9UKJ1
    Related
    ENSP00000377569.2, ENST00000394000.6
    Conserved Domains (2) summary
    smart00410
    Location:38128
    IG_like; Immunoglobulin like
    cl11960
    Location:33150
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    100372659..100400098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446739.1XP_024302507.1  paired immunoglobulin-like type 2 receptor alpha isoform X1

    Conserved Domains (1) summary
    cl11960
    Location:33150
    Ig; Immunoglobulin domain
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