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Aliases for BTN3A1 Gene

Aliases for BTN3A1 Gene

  • Butyrophilin Subfamily 3 Member A1 2 3 5
  • BTF5 3 4
  • DJ45P21.3 (Butyrophilin, Subfamily 3, Member A1) 3
  • Butyrophilin, Subfamily 3, Member A1 2
  • CD277 Antigen 4
  • BTN3.1 3
  • BT3.1 3
  • CD277 3

External Ids for BTN3A1 Gene

Previous GeneCards Identifiers for BTN3A1 Gene

  • GC06P026460
  • GC06P026465
  • GC06P026510
  • GC06P026345

Summaries for BTN3A1 Gene

Entrez Gene Summary for BTN3A1 Gene

  • 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]

GeneCards Summary for BTN3A1 Gene

BTN3A1 (Butyrophilin Subfamily 3 Member A1) is a Protein Coding gene. Among its related pathways are Immune System and T Cell Co-Signaling Pathway: Ligand-Receptor Interactions. An important paralog of this gene is BTN3A3.

UniProtKB/Swiss-Prot for BTN3A1 Gene

  • Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as isopentenyl pyrophosphate.

Gene Wiki entry for BTN3A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTN3A1 Gene

Genomics for BTN3A1 Gene

Regulatory Elements for BTN3A1 Gene

Enhancers for BTN3A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F026019 1.6 FANTOM5 ENCODE 13.2 -374.7 -374651 16.2 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ABT1 HMGN4 ENSG00000272462 BTN3A2 ZNF322 HIST1H2APS5 HIST1H1C HIST1H2APS4 HIST1H2BPS1 HIST1H2BA
GH06F026420 1.1 ENCODE 15.5 +19.1 19097 2.1 PKNOX1 ATF1 MLX ARNT CREB3L1 ARID4B SIN3A ZNF48 BRCA1 ZNF2 BTN3A2 BTN2A3P BTN2A1 BTN3A1 ZNF391 ZNF322 HCG11 ENSG00000261353 BTN3A3
GH06F026439 1 ENCODE 15.1 +38.2 38226 2.5 HDGF ATF1 CREB3L1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF207 NFYC BTN3A2 BTN2A1 BTN3A1 HMGN4 BTN2A2 ABT1 BTN1A1 BTN2A3P BTN3A3
GH06F026382 1.1 ENCODE 13 -18.9 -18871 2.2 HDGF PKNOX1 ARNT SIN3A DMAP1 FEZF1 YBX1 ZNF2 ZNF143 ZNF207 BTN2A2 HMGN4 ABT1 GUSBP2 ZNF322 HIST1H2APS4 ENSG00000271071 HIST1H2APS5 HIST1H2BA VN1R13P
GH06F026401 1 ENCODE 14 +0.0 23 2.3 HDGF ATF1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 BTN3A2 HMGN4 BTN3A1 BTN2A1 ABT1 BTN2A2 BTN1A1 HIST1H4H HIST1H2APS4 HIST1H3G
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTN3A1 on UCSC Golden Path with GeneCards custom track

Promoters for BTN3A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001214092 263 1801 HDGF ATF1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF48

Genomic Location for BTN3A1 Gene

Chromosome:
6
Start:
26,402,237 bp from pter
End:
26,415,216 bp from pter
Size:
12,980 bases
Orientation:
Plus strand

Genomic View for BTN3A1 Gene

Genes around BTN3A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTN3A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTN3A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTN3A1 Gene

Proteins for BTN3A1 Gene

  • Protein details for BTN3A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00481-BT3A1_HUMAN
    Recommended name:
    Butyrophilin subfamily 3 member A1
    Protein Accession:
    O00481
    Secondary Accessions:
    • A2A278
    • A8K2C8
    • B4DIQ1
    • B4DRM2
    • E9PGB4
    • E9PHG8
    • Q0P515
    • Q147X5
    • Q53F15
    • Q99420
    • Q9HCY1

    Protein attributes for BTN3A1 Gene

    Size:
    513 amino acids
    Molecular mass:
    57677 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=CAA69164.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BTN3A1 Gene

    Alternative splice isoforms for BTN3A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTN3A1 Gene

Post-translational modifications for BTN3A1 Gene

No data available for DME Specific Peptides for BTN3A1 Gene

Domains & Families for BTN3A1 Gene

Suggested Antigen Peptide Sequences for BTN3A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00481

UniProtKB/Swiss-Prot:

BT3A1_HUMAN :
  • Contains 1 B30.2/SPRY domain.
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
Domain:
  • Contains 1 B30.2/SPRY domain.
  • Contains 2 Ig-like V-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
genes like me logo Genes that share domains with BTN3A1: view

Function for BTN3A1 Gene

Molecular function for BTN3A1 Gene

GENATLAS Biochemistry:
butyrophilin subfamily 3,member A1,B box family of proteins,involved in cell proliferation and development
UniProtKB/Swiss-Prot Function:
Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as isopentenyl pyrophosphate.

Gene Ontology (GO) - Molecular Function for BTN3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21982860
genes like me logo Genes that share ontologies with BTN3A1: view
genes like me logo Genes that share phenotypes with BTN3A1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTN3A1 Gene

Localization for BTN3A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTN3A1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTN3A1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BTN3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IDA 21918970
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BTN3A1: view

Pathways & Interactions for BTN3A1 Gene

genes like me logo Genes that share pathways with BTN3A1: view

Pathways by source for BTN3A1 Gene

2 Reactome pathways for BTN3A1 Gene
1 R&D Systems pathway for BTN3A1 Gene

Gene Ontology (GO) - Biological Process for BTN3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0050663 cytokine secretion IDA 21918970
GO:0050798 activated T cell proliferation IMP 21918970
GO:0050852 T cell receptor signaling pathway IDA 21918970
genes like me logo Genes that share ontologies with BTN3A1: view

No data available for SIGNOR curated interactions for BTN3A1 Gene

Transcripts for BTN3A1 Gene

Unigene Clusters for BTN3A1 Gene

Butyrophilin, subfamily 3, member A1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTN3A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1: -
SP2:
SP3:
SP4: - -

Relevant External Links for BTN3A1 Gene

GeneLoc Exon Structure for
BTN3A1
ECgene alternative splicing isoforms for
BTN3A1

Expression for BTN3A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BTN3A1 Gene

mRNA differential expression in normal tissues according to GTEx for BTN3A1 Gene

This gene is overexpressed in Whole Blood (x5.8) and Spleen (x4.2).

Protein differential expression in normal tissues from HIPED for BTN3A1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.4), Heart (17.4), Monocytes (12.2), and CD8 Tcells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTN3A1 Gene



Protein tissue co-expression partners for BTN3A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BTN3A1 Gene:

BTN3A1

SOURCE GeneReport for Unigene cluster for BTN3A1 Gene:

Hs.191510

mRNA Expression by UniProt/SwissProt for BTN3A1 Gene:

O00481-BT3A1_HUMAN
Tissue specificity: Detected on T-cells, natural killer cells, dendritic cells and macrophages (at protein level). Ubiquitous. Highly expressed in heart, pancreas and lung, Moderately expressed in placenta, liver and muscle.
genes like me logo Genes that share expression patterns with BTN3A1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for BTN3A1 Gene

Orthologs for BTN3A1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BTN3A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTN3A1 34
  • 99.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 39 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 35 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Btnl6 35
  • 34 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 27 (a)
ManyToMany
Species where no ortholog for BTN3A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BTN3A1 Gene

ENSEMBL:
Gene Tree for BTN3A1 (if available)
TreeFam:
Gene Tree for BTN3A1 (if available)

Paralogs for BTN3A1 Gene

Paralogs for BTN3A1 Gene

(15) SIMAP similar genes for BTN3A1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for BTN3A1 Gene

genes like me logo Genes that share paralogs with BTN3A1: view

Variants for BTN3A1 Gene

Sequence variations from dbSNP and Humsavar for BTN3A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1033402 -- 26,403,062(-) TTGTA(C/T)ATTCA intron-variant
rs10456045 -- 26,404,730(+) TGCTC(A/G)ACTTG intron-variant
rs1057932 -- 26,407,845(+) GTATG(A/C)AGTAG intron-variant, nc-transcript-variant, reference, missense
rs1057933 -- 26,407,908(+) CAGAA(A/G)TTCCC intron-variant, nc-transcript-variant, reference, missense
rs10689018 -- 26,414,691(+) GGGAT(-/TT)TTTTT intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for BTN3A1 Gene

Variant ID Type Subtype PubMed ID
nsv1030863 CNV gain+loss 25217958
nsv601184 CNV gain 21841781
nsv981113 CNV duplication 23825009
nsv1023453 CNV gain 25217958
esv3890802 CNV loss 25118596
esv3608404 CNV gain 21293372
esv3608403 CNV loss 21293372
esv3608402 CNV loss 21293372
esv2731730 CNV deletion 23290073
esv2731728 CNV deletion 23290073

Variation tolerance for BTN3A1 Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.11; 69.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTN3A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTN3A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTN3A1 Gene

Disorders for BTN3A1 Gene

Relevant External Links for BTN3A1

Genetic Association Database (GAD)
BTN3A1
Human Genome Epidemiology (HuGE) Navigator
BTN3A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTN3A1

No disorders were found for BTN3A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTN3A1 Gene

Publications for BTN3A1 Gene

  1. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy D.A. … Feder J.N. (Genome Res. 1997) 2 3 4 64
  2. Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex. (PMID: 9382921) Tazi-Ahnini R. … Pontarotti P. (Immunogenetics 1997) 3 4 22 64
  3. Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human gammadelta T-cell subset. (PMID: 22767497) Harly C. … Scotet E. (Blood 2012) 3 4 64
  4. The molecular basis for modulation of human Vgamma9Vdelta2 T cell responses by CD277/butyrophilin-3 (BTN3A)-specific antibodies. (PMID: 22846996) Palakodeti A. … Adams E.J. (J. Biol. Chem. 2012) 3 4 64
  5. Differential role for CD277 as a co-regulator of the immune signal in T and NK cells. (PMID: 21918970) Messal N. … Olive D. (Eur. J. Immunol. 2011) 3 4 64

Products for BTN3A1 Gene

Sources for BTN3A1 Gene

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