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

Gene ID: 151888, updated on 7-Dec-2014
Official Symbol
BTLAprovided by HGNC
Official Full Name
B and T lymphocyte associatedprovided by HGNC
Primary source
HGNC:HGNC:21087
See related
Ensembl:ENSG00000186265; HPRD:06392; 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]
See BTLA in Epigenomics, MapViewer
Location:
3q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (112463966..112499590, 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 solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 Neighboring gene ubiquitination factor E4A (UFD2 homolog, yeast) pseudogene Neighboring gene CD200 molecule Neighboring gene olfactory receptor, family 7, subfamily E, member 100 pseudogene Neighboring gene autophagy related 3

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

Function Evidence Code Pubs
receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
T cell costimulation TAS
Traceable Author Statement
more info
 
immune response-regulating cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of B cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of alpha-beta T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma 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 attenuator
B and T lymphocyte attenuator
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
    Conserved Domains (2) summary
    cd00096
    Location:55117
    Ig; Immunoglobulin domain
    smart00410
    Location:43133
    IG_like; Immunoglobulin like
  2. NM_181780.3NP_861445.3  B- and T-lymphocyte attenuator isoform 1 precursor

    See proteins identical to 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, OTTHUMP00000214514, ENST00000334529, OTTHUMT00000354101
    Conserved Domains (2) summary
    cd00096
    Location:55117
    Ig; Immunoglobulin domain
    smart00410
    Location:43133
    IG_like; Immunoglobulin like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    112463966..112499590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247136.2XP_005247193.1  

    See proteins identical to XP_005247193.1

    UniProtKB/Swiss-Prot
    Q7Z6A9
    Conserved Domains (2) summary
    cd00096
    Location:55117
    Ig; Immunoglobulin domain
    smart00410
    Location:43133
    IG_like; Immunoglobulin like

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    109566845..109602503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)