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

    Gene ID: 696, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:1135
    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
    mouse all
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    Genomic context

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    See BTN1A1 in Genome Data Viewer
    Location:
    6p22.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26500303..26510425)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26368710..26378831)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26500531..26510653)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24243 Neighboring gene butyrophilin subfamily 2 member A1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:26465895-26467094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24244 Neighboring gene uncharacterized LOC285819 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:26477169-26478368 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1165 Neighboring gene butyrophilin subfamily 1 member A1 pseudogene 1 Neighboring gene uncharacterized LOC107986583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17010 Neighboring gene RNA, U6 small nuclear 502, pseudogene Neighboring gene tRNA-Leu (anticodon CAG) 1-7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Butyrophilin, an apical plasma membrane-associated glycoprotein characteristic of lactating mammary glands of diverse species. Heid HW, et al. Biochim Biophys Acta, 1983 Feb. PMID 6830779
    2. A review of the molecular and cellular biology of butyrophilin, the major protein of bovine milk fat globule membrane. Mather IH, et al. J Dairy Sci, 1993 Dec. PMID 8132890
    3. Cloning and sequence analysis of human butyrophilin reveals a potential receptor function. Taylor MR, et al. Biochim Biophys Acta, 1996 Apr 10. PMID 8611614
    4. Multiple forms of lactadherin (breast antigen BA46) and butyrophilin are secreted into human milk as major components of milk fat globule membrane. Cavaletto M, et al. J Dairy Res, 1999 May. PMID 10376248
    5. Site-specific glycosylation of bovine butyrophilin. Sato T, et al. J Biochem, 1995 Jan. PMID 7775382

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BTN1A1 is a novel immune checkpoint mutually exclusive to PD-L1.
      Title: BTN1A1 is a novel immune checkpoint mutually exclusive to PD-L1.
    2. Data illustrated the importance of Akt1 in mammary epithelial cell proliferation, as well as in the regulation of Btn1a1 and subsequent expression of ss-casein.
      Title: Akt1 is essential for postnatal mammary gland development, function, and the expression of Btn1a1.
    3. PRY/SPRY/B30.2 domain of butyrophilin 1A1 (BTN1A1) binds to xanthine oxidoreductase
      Title: The PRY/SPRY/B30.2 domain of butyrophilin 1A1 (BTN1A1) binds to xanthine oxidoreductase: implications for the function of BTN1A1 in the mammary gland and other tissues.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001732.3 → NP_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, Q4VAN3, Q4VAN4, Q9H458
      UniProtKB/TrEMBL
      Q4VAN2
      Related
      ENSP00000507193.1, ENST00000684113.1
      Conserved Domains (4) summary
      cd05713
      Location:43 → 142
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:35 → 141
      IG_like; Immunoglobulin like
      cd15819
      Location:302 → 473
      SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
      cl11960
      Location:162 → 223
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      26500303..26510425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791780.1 Reference GRCh38.p14 PATCHES

      Range
      46483..56605
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      26368710..26378831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13410.3 GenPept UniProtKB/Swiss-Prot:Q13410

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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