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    BTN1A1 butyrophilin subfamily 1 member A1 [ Homo sapiens (human) ]

    Gene ID: 696, updated on 12-Jul-2019

    Summary

    Official Symbol
    BTN1A1provided by HGNC
    Official Full Name
    butyrophilin subfamily 1 member A1provided by HGNC
    Primary source
    HGNC:HGNC:1135
    See related
    Ensembl:ENSG00000124557 MIM:601610
    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
    BT; BTN; BTN1
    Summary
    Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See BTN1A1 in Genome Data Viewer
    Location:
    6p22.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (26499290..26510425)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26500577..26510653)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene butyrophilin subfamily 2 member A1 Neighboring gene uncharacterized LOC285819 Neighboring gene butyrophilin subfamily 1 member A1 pseudogene 1 Neighboring gene uncharacterized LOC107986583 Neighboring gene RNA, U6 small nuclear 502, pseudogene Neighboring gene tRNA-Leu (anticodon CAG) 1-7

    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?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog
    GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
    NHGRI GWA Catalog
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    NHGRI GWA Catalog

    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...
    • Butyrophilin (BTN) family interactions, organism-specific biosystem (from REACTOME)
      Butyrophilin (BTN) family interactions, organism-specific biosystemButyrophilins (BTNs) and butyrophilin like (BTNL) molecules are regulators of immune responses that belong to the immunoglobulin (Ig) superfamily of transmembrane proteins. They are structurally rela...
    • 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular space HDA PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    butyrophilin subfamily 1 member A1
    Names
    bK14H9.2 (butyrophilin, subfamily 1, member A1)

    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_001732.3NP_001723.2  butyrophilin subfamily 1 member A1 precursor

      See identical proteins and their annotated locations for NP_001723.2

      Status: VALIDATED

      Source sequence(s)
      AL121936, AW977526, BC096312, U39576
      Consensus CDS
      CCDS4614.1
      UniProtKB/Swiss-Prot
      Q13410
      UniProtKB/TrEMBL
      Q4VAN2
      Related
      ENSP00000244513.6, ENST00000244513.10
      Conserved Domains (4) summary
      cd05713
      Location:43142
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:35141
      IG_like; Immunoglobulin like
      cd15819
      Location:302473
      SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
      cl11960
      Location:162223
      Ig; Immunoglobulin domain

    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.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      26499290..26510425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249340.3XP_005249397.2  butyrophilin subfamily 1 member A1 isoform X1

      Conserved Domains (4) summary
      cd05713
      Location:143242
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:135241
      IG_like; Immunoglobulin like
      cd15819
      Location:402573
      SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
      cl11960
      Location:262323
      Ig; Immunoglobulin domain
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