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    BTN3A1 butyrophilin subfamily 3 member A1 [ Homo sapiens (human) ]

    Gene ID: 11119, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BTN3A1provided by HGNC
    Official Full Name
    butyrophilin subfamily 3 member A1provided by HGNC
    Primary source
    HGNC:HGNC:1138
    See related
    Ensembl:ENSG00000026950 MIM:613593; AllianceGenome:HGNC:1138
    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
    BTF5; BT3.1; CD277; BTN3.1
    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., BNT3A1) 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 25.4), lymph node (RPKM 18.1) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See BTN3A1 in Genome Data Viewer
    Location:
    6p22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26402275..26415208)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26270639..26289982)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26402503..26415436)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24240 Neighboring gene butyrophilin subfamily 3 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17008 Neighboring gene butyrophilin subfamily 2 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24241 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:26420693-26421656 Neighboring gene butyrophilin subfamily 2 member A3, pseudogene Neighboring gene butyrophilin subfamily 3 member A3

    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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    Related articles in PubMed

    1. Association of BTN3A1 gene polymorphisms with systemic lupus erythematosus in a Chinese Han population. Xu WD, et al. Int J Rheum Dis, 2024 Mar. PMID 38450995
    2. The intracellular B30.2 domain of butyrophilin 3A1 binds phosphoantigens to mediate activation of human Vγ9Vδ2 T cells. Sandstrom A, et al. Immunity, 2014 Apr 17. PMID 24703779, Free PMC Article
    3. Vγ9Vδ2 TCR-activation by phosphorylated antigens requires butyrophilin 3 A1 (BTN3A1) and additional genes on human chromosome 6. Riaño F, et al. Eur J Immunol, 2014 Sep. PMID 24890657
    4. Synthesis of a phosphoantigen prodrug that potently activates Vγ9Vδ2 T-lymphocytes. Hsiao CH, et al. Chem Biol, 2014 Aug 14. PMID 25065532
    5. Sensor Function for Butyrophilin 3A1 in Prenyl Pyrophosphate Stimulation of Human Vγ2Vδ2 T Cells. Wang H, et al. J Immunol, 2015 Nov 15. PMID 26475929, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BTN3A1 expressed in cervical cancer cells promotes Vgamma9Vdelta2 T cells exhaustion through upregulating transcription factors NR4A2/3 downstream of TCR signaling.
      Title: BTN3A1 expressed in cervical cancer cells promotes Vγ9Vδ2 T cells exhaustion through upregulating transcription factors NR4A2/3 downstream of TCR signaling.
    2. Association of BTN3A1 gene polymorphisms with systemic lupus erythematosus in a Chinese Han population.
      Title: Association of BTN3A1 gene polymorphisms with systemic lupus erythematosus in a Chinese Han population.
    3. Synergistic effects of BTN3A1, SHP2, CD274, and STAT3 gene polymorphisms on the risk of systemic lupus erythematosus: a multifactorial dimensional reduction analysis.
      Title: Synergistic effects of BTN3A1, SHP2, CD274, and STAT3 gene polymorphisms on the risk of systemic lupus erythematosus: a multifactorial dimensional reduction analysis.
    4. Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vgamma9Vdelta2 T cells.
      Title: Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vγ9Vδ2 T cells.
    5. Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1.
      Title: Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1.
    6. BTN3A1 promotes tumor progression and radiation resistance in esophageal squamous cell carcinoma by regulating ULK1-mediated autophagy.
      Title: BTN3A1 promotes tumor progression and radiation resistance in esophageal squamous cell carcinoma by regulating ULK1-mediated autophagy.
    7. BTN3A: A Promising Immune Checkpoint for Cancer Prognosis and Treatment.
      Title: BTN3A: A Promising Immune Checkpoint for Cancer Prognosis and Treatment.
    8. Up-regulation of BTN3A1 on CD14(+) cells promotes Vgamma9Vdelta2 T cell activation in psoriasis.
      Title: Up-regulation of BTN3A1 on CD14(+) cells promotes Vγ9Vδ2 T cell activation in psoriasis.
    9. Elevated Expressions of BTN3A1 and RhoB in Psoriasis Vulgaris Lesions by an Immunohistochemical Study.
      Title: Elevated Expressions of BTN3A1 and RhoB in Psoriasis Vulgaris Lesions by an Immunohistochemical Study.
    10. Comprehensive analysis of BTN3A1 in cancers: mining of omics data and validation in patient samples and cellular models.
      Title: Comprehensive analysis of BTN3A1 in cancers: mining of omics data and validation in patient samples and cellular models.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variants on chromosome 6p22.1 are associated with schizophrenia.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC141880

    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 receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in activated T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of type II interferon production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 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 A1
    Names
    dJ45P21.3 (butyrophilin, subfamily 3, 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_001145008.2 → NP_001138480.1  butyrophilin subfamily 3 member A1 isoform c precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AA977088, AK299327, AL021917, BC118586, DC417480
      Consensus CDS
      CCDS47388.1
      UniProtKB/TrEMBL
      B4DQ62
      Related
      ENSP00000406667.2, ENST00000414912.2
      Conserved Domains (3) summary
      cd05713
      Location:45 → 144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37 → 143
      IG_like; Immunoglobulin like
      cd15820
      Location:285 → 460
      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_001145009.2 → NP_001138481.1  butyrophilin subfamily 3 member A1 isoform d precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. The resulting isoform (d) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AA977088, AK291162, AK295720, AL021917, BC118586, BC121800, DA044176, DC417480
      Consensus CDS
      CCDS47389.1
      UniProtKB/TrEMBL
      A8K547
      Related
      ENSP00000396684.2, ENST00000425234.6
      Conserved Domains (3) summary
      cd05713
      Location:45 → 144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37 → 143
      IG_like; Immunoglobulin like
      cl11960
      Location:155 → 222
      Ig; Immunoglobulin domain

    3. NM_007048.6 → NP_008979.3  butyrophilin subfamily 3 member A1 isoform a precursor

      See identical proteins and their annotated locations for NP_008979.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA977088, AL021917, BC118586, DC417480
      Consensus CDS
      CCDS4608.1
      UniProtKB/Swiss-Prot
      A2A278, A8K2C8, B4DIQ1, B4DRM2, E9PGB4, E9PHG8, O00481, Q0P515, Q147X5, Q53F15, Q99420, Q9HCY1
      UniProtKB/TrEMBL
      B4DQ62
      Related
      ENSP00000289361.6, ENST00000289361.11
      Conserved Domains (3) summary
      cd05713
      Location:45 → 144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37 → 143
      IG_like; Immunoglobulin like
      cd15820
      Location:337 → 512
      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

    4. NM_194441.3 → NP_919423.1  butyrophilin subfamily 3 member A1 isoform b precursor

      See identical proteins and their annotated locations for NP_919423.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' and 3' UTRs, and uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AA977088, AK291162, AL021917, BC118586, DA044176
      Consensus CDS
      CCDS4609.1
      UniProtKB/TrEMBL
      A8K547
      Related
      ENSP00000420010.2, ENST00000476549.6
      Conserved Domains (3) summary
      cd05713
      Location:45 → 144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37 → 143
      IG_like; Immunoglobulin like
      cl11960
      Location:155 → 222
      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
      26402275..26415208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418124.1 → XP_047274080.1  butyrophilin subfamily 3 member A1 isoform X4

    2. XM_047418120.1 → XP_047274076.1  butyrophilin subfamily 3 member A1 isoform X1

      UniProtKB/Swiss-Prot
      A2A278, A8K2C8, B4DIQ1, B4DRM2, E9PGB4, E9PHG8, O00481, Q0P515, Q147X5, Q53F15, Q99420, Q9HCY1

    3. XM_047418122.1 → XP_047274078.1  butyrophilin subfamily 3 member A1 isoform X2

    4. XM_047418129.1 → XP_047274085.1  butyrophilin subfamily 3 member A1 isoform X8

    5. XM_047418123.1 → XP_047274079.1  butyrophilin subfamily 3 member A1 isoform X3

    6. XM_047418121.1 → XP_047274077.1  butyrophilin subfamily 3 member A1 isoform X1

      UniProtKB/Swiss-Prot
      A2A278, A8K2C8, B4DIQ1, B4DRM2, E9PGB4, E9PHG8, O00481, Q0P515, Q147X5, Q53F15, Q99420, Q9HCY1

    7. XM_005248834.5 → XP_005248891.1  butyrophilin subfamily 3 member A1 isoform X4

      See identical proteins and their annotated locations for XP_005248891.1

      UniProtKB/TrEMBL
      A8K547
      Conserved Domains (3) summary
      cd05713
      Location:45 → 144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37 → 143
      IG_like; Immunoglobulin like
      cl11960
      Location:155 → 222
      Ig; Immunoglobulin domain

    8. XM_047418125.1 → XP_047274081.1  butyrophilin subfamily 3 member A1 isoform X5

    9. XM_005248833.3 → XP_005248890.1  butyrophilin subfamily 3 member A1 isoform X2

      UniProtKB/TrEMBL
      B4DQ62
      Related
      ENST00000082468.11
      Conserved Domains (3) summary
      cd05713
      Location:45 → 144
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:37 → 143
      IG_like; Immunoglobulin like
      cd15820
      Location:330 → 505
      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

    10. XM_047418126.1 → XP_047274082.1  butyrophilin subfamily 3 member A1 isoform X6

    11. XM_047418128.1 → XP_047274084.1  butyrophilin subfamily 3 member A1 isoform X8

    12. XM_047418127.1 → XP_047274083.1  butyrophilin subfamily 3 member A1 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      26270639..26289982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354120.1 → XP_054210095.1  butyrophilin subfamily 3 member A1 isoform X9

    2. XM_054354118.1 → XP_054210093.1  butyrophilin subfamily 3 member A1 isoform X4

    3. XM_054354112.1 → XP_054210087.1  butyrophilin subfamily 3 member A1 isoform X1

      UniProtKB/Swiss-Prot
      A2A278, A8K2C8, B4DIQ1, B4DRM2, E9PGB4, E9PHG8, O00481, Q0P515, Q147X5, Q53F15, Q99420, Q9HCY1

    4. XM_054354115.1 → XP_054210090.1  butyrophilin subfamily 3 member A1 isoform X2

    5. XM_054354124.1 → XP_054210099.1  butyrophilin subfamily 3 member A1 isoform X8

    6. XM_054354116.1 → XP_054210091.1  butyrophilin subfamily 3 member A1 isoform X3

    7. XM_054354113.1 → XP_054210088.1  butyrophilin subfamily 3 member A1 isoform X1

      UniProtKB/Swiss-Prot
      A2A278, A8K2C8, B4DIQ1, B4DRM2, E9PGB4, E9PHG8, O00481, Q0P515, Q147X5, Q53F15, Q99420, Q9HCY1

    8. XM_054354117.1 → XP_054210092.1  butyrophilin subfamily 3 member A1 isoform X4

    9. XM_054354119.1 → XP_054210094.1  butyrophilin subfamily 3 member A1 isoform X5

    10. XM_054354114.1 → XP_054210089.1  butyrophilin subfamily 3 member A1 isoform X2

    11. XM_054354121.1 → XP_054210096.1  butyrophilin subfamily 3 member A1 isoform X6

    12. XM_054354123.1 → XP_054210098.1  butyrophilin subfamily 3 member A1 isoform X8

    13. XM_054354122.1 → XP_054210097.1  butyrophilin subfamily 3 member A1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00481.3 GenPept UniProtKB/Swiss-Prot:O00481

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