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

    Gene ID: 151888, updated on 10-Dec-2017
    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; Vega:OTTHUMG00000159255
    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
    Location:
    3q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (112458790..112499756, 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 CD200 molecule Neighboring gene uncharacterized LOC105374041 Neighboring gene olfactory receptor family 7 subfamily E member 100 pseudogene Neighboring gene autophagy related 3 Neighboring gene solute carrier family 35 member A5

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ16065, MGC129743

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    T cell costimulation TAS
    Traceable Author Statement
    more info
     
    adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    B- and T-lymphocyte attenuator
    Names
    B- and T-lymphocyte-associated protein

    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, OTTHUMP00000214515, ENST00000383680.4, OTTHUMT00000354102
      Conserved Domains (2) summary
      smart00410
      Location:43133
      IG_like; Immunoglobulin like
      cl11960
      Location:43134
      Ig; Immunoglobulin domain
    2. NM_181780.3NP_861445.3  B- and T-lymphocyte attenuator isoform 1 precursor

      See identical proteins and their annotated locations for NP_861445.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA828425, AC092894, AK131204, BC107092, BE832323, CD702861
      Consensus CDS
      CCDS33819.1
      UniProtKB/Swiss-Prot
      Q7Z6A9
      Related
      ENSP00000333919.5, OTTHUMP00000214514, ENST00000334529.9, OTTHUMT00000354101
      Conserved Domains (2) summary
      smart00410
      Location:43133
      IG_like; Immunoglobulin like
      cl11960
      Location:43134
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      112458790..112499756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512447.2XP_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_017005748.1XP_016861237.1  B- and T-lymphocyte attenuator isoform X2

      UniProtKB/Swiss-Prot
      Q7Z6A9
      Conserved Domains (2) summary
      smart00410
      Location:43133
      IG_like; Immunoglobulin like
      cl11960
      Location:43134
      Ig; Immunoglobulin domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      112146758..112182356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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