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    BTN3A3 butyrophilin subfamily 3 member A3 [ Homo sapiens (human) ]

    Gene ID: 10384, updated on 3-Nov-2024

    Summary

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    Official Symbol
    BTN3A3provided by HGNC
    Official Full Name
    butyrophilin subfamily 3 member A3provided by HGNC
    Primary source
    HGNC:HGNC:1140
    See related
    Ensembl:ENSG00000111801 MIM:613595; AllianceGenome:HGNC:1140
    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
    BTF3; BTN3.3
    Summary
    The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
    Expression
    Ubiquitous expression in spleen (RPKM 36.1), lymph node (RPKM 22.4) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See BTN3A3 in Genome Data Viewer
    Location:
    6p22.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26440504..26453415)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26308867..26321780)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26440732..26453643)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene butyrophilin subfamily 3 member A1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:26420693-26421656 Neighboring gene butyrophilin subfamily 2 member A3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24242 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

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population.
      Title: Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population.
    2. Macrophage-specific silencing of BTN3A3 in breast cancer cells decreased cancer stem cell frequency and tumor growth. Disruption of the LSECtin-BTN3A3 axis with BTN3A3-Fc or anti-BTN3A3 monoclonal antibodies has a therapeutic effect on breast cancer.
      Title: LSECtin on tumor-associated macrophages enhances breast cancer stemness via interaction with its receptor BTN3A3.
    3. This study identified that CGPs was found to significantly correlate with the differential expression and methylation of genes encoding butyrophilin, subfamily 3, member A3.
      Title: Correlation between DNA methylation and gene expression in the brains of patients with bipolar disorder and schizophrenia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: BTN2A1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in T cell mediated immunity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 membrane HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    butyrophilin subfamily 3 member A3
    Names
    butyrophilin 3

    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_001242803.2 → NP_001229732.1  butyrophilin subfamily 3 member A3 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons in two regions, but the open reading frame is retained, compared to variant 1. The encoded isoform (c) has a shorter N-terminus and lacks an internal segment, compared to isoform a.
      Source sequence(s)
      BC015815, BX341863, DA445999
      UniProtKB/TrEMBL
      A0A089GIA6
      Conserved Domains (3) summary
      cd05713
      Location:3 → 102
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:1 → 101
      IG_like; Immunoglobulin like
      cd15820
      Location:127 → 303
      SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277

    2. NM_006994.5 → NP_008925.1  butyrophilin subfamily 3 member A3 isoform a precursor

      See identical proteins and their annotated locations for NP_008925.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC015815, DC410234
      Consensus CDS
      CCDS4611.1
      UniProtKB/Swiss-Prot
      B4DWI7, E9PCP5, O00478
      UniProtKB/TrEMBL
      A8K6Q7, Q53FI5
      Related
      ENSP00000244519.2, ENST00000244519.7
      Conserved Domains (3) summary
      cd15820
      Location:337 → 513
      SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277
      cd05713
      Location:45 → 144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      cl27674
      Location:227 → 313
      BaeS; Signal transduction histidine kinase [Signal transduction mechanisms]

    3. NM_197974.3 → NP_932078.2  butyrophilin subfamily 3 member A3 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream translational start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AK301553, BC015815
      Consensus CDS
      CCDS4612.2
      UniProtKB/TrEMBL
      A8K6Q7, Q53FI5
      Related
      ENSP00000355238.3, ENST00000361232.7
      Conserved Domains (3) summary
      cd05713
      Location:3 → 102
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:1 → 101
      IG_like; Immunoglobulin like
      cd15820
      Location:288 → 464
      SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277

    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
      26440504..26453415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      26308867..26321780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00478.1 GenPept UniProtKB/Swiss-Prot:O00478

    Gene LinkOut

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

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