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BTLA B and T lymphocyte associated [ Homo sapiens (human) ]

Gene ID: 151888, updated on 3-Jan-2019

Summary

Official Symbol
BTLAprovided by HGNC
Official Full Name
B and T lymphocyte associatedprovided by HGNC
Primary source
HGNC:HGNC:21087
See related
Ensembl:ENSG00000186265 MIM:607925
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BTLA1; CD272
Summary
This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
Expression
Biased expression in lymph node (RPKM 5.9), appendix (RPKM 3.2) and 7 other tissues See more
Orthologs

Genomic context

See BTLA in Genome Data Viewer
Location:
3q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (112463030..112499757, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112182813..112218438, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 3q13.2-q13.31 proximal HERV-H recombination region Neighboring gene uncharacterized LOC112268446 Neighboring gene olfactory receptor family 7 subfamily E member 100 pseudogene Neighboring gene autophagy related 3 Neighboring gene solute carrier family 35 member A5

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of B and T lymphocyte associated protein (BTLA) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Costimulation by the CD28 family, organism-specific biosystem (from REACTOME)
    Costimulation by the CD28 family, organism-specific biosystemOptimal activation of T-lymphocytes requires at least two signals. A primary one is delivered by the T-cell receptor (TCR) complex after antigen recognition and additional costimulatory signals are d...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16065, MGC129743

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
T cell costimulation TAS
Traceable Author Statement
more info
 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
immune response-regulating cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
B- and T-lymphocyte attenuator
Names
B- and T-lymphocyte-associated protein

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.

mRNA and Protein(s)

  1. NM_001085357.1NP_001078826.1  B- and T-lymphocyte attenuator isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AA828425, AC092894, AK131204, BC107091, BE832323, CD702861
    Consensus CDS
    CCDS43130.1
    UniProtKB/Swiss-Prot
    Q7Z6A9
    Related
    ENSP00000373178.4, ENST00000383680.4
    Conserved Domains (2) summary
    smart00410
    Location:43133
    IG_like; Immunoglobulin like
    cl11960
    Location:43134
    Ig; Immunoglobulin domain
  2. NM_181780.4NP_861445.4  B- and T-lymphocyte attenuator isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC092894
    Consensus CDS
    CCDS33819.1
    Related
    ENSP00000333919.5, ENST00000334529.9
    Conserved Domains (1) summary
    smart00410
    Location:43133
    IG_like; Immunoglobulin like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    112463030..112499757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512447.3XP_011510749.1  B- and T-lymphocyte attenuator isoform X1

    See identical proteins and their annotated locations for XP_011510749.1

    Conserved Domains (2) summary
    smart00410
    Location:43133
    IG_like; Immunoglobulin like
    cl11960
    Location:43134
    Ig; Immunoglobulin domain
  2. XM_017005748.2XP_016861237.1  B- and T-lymphocyte attenuator isoform X2

    UniProtKB/Swiss-Prot
    Q7Z6A9
    Conserved Domains (1) summary
    smart00410
    Location:43133
    IG_like; Immunoglobulin like
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