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Aliases for BTN3A1 Gene

Aliases for BTN3A1 Gene

  • Butyrophilin, Subfamily 3, Member A1 2 3
  • BTF5 3 4 6
  • CD277 3 6
  • DJ45P21.3 (Butyrophilin, Subfamily 3, Member A1) 3
  • Butyrophilin Subfamily 3 Member A1 3
  • CD277 Antigen 4
  • BTN3.1 3
  • BT3.1 3

External Ids for BTN3A1 Gene

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. An important paralog of this gene is BTNL9.

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

Genomic Location for BTN3A1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BTN3A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTN3A1 Gene

Regulatory Elements 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

Proteomics data for BTN3A1 Gene at MOPED

Post-translational modifications for BTN3A1 Gene

No data available for DME Specific Peptides for BTN3A1 Gene

Domains for BTN3A1 Gene

Gene Families for BTN3A1 Gene

HGNC:
  • CD :CD molecules
  • VSET :Immunoglobulin superfamily / V-set domain containing
  • C2SET :Immunoglobulin superfamily / C2-set domain containing
  • BTN :Butyrophilins

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
Domain:
  • Contains 1 B30.2/SPRY domain.:
    • O00481
  • Contains 2 Ig-like V-type (immunoglobulin-like) domains.:
    • O00481
Family:
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.:
    • O00481
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

Phenotypes for BTN3A1 Gene

GenomeRNAi human phenotypes for BTN3A1:
genes like me logo Genes that share phenotypes with BTN3A1: view

miRNA for BTN3A1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for BTN3A1 Gene COMPARTMENTS Subcellular localization image for BTN3A1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
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 IDA 21918970
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BTN3A1: view

Pathways for BTN3A1 Gene

SuperPathways for BTN3A1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BTN3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050663 cytokine secretion IDA 21918970
GO:0050798 activated T cell proliferation IMP 21918970
GO:0050852 T cell receptor signaling pathway IDA 21918970
GO:0072643 interferon-gamma secretion IMP 21918970
genes like me logo Genes that share ontologies with BTN3A1: view

No data available for Pathways by source for BTN3A1 Gene

Transcripts for BTN3A1 Gene

Unigene Clusters for BTN3A1 Gene

Butyrophilin, subfamily 3, member A1:
Representative Sequences:

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 for BTN3A1 Gene

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

This gene is overexpressed in Whole Blood (5.8) and Spleen (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BTN3A1 Gene

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 expressions with BTN3A1: view

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 35
  • 99.42 (n)
  • 99.03 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 35 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Btnl6 36
  • 34 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 27 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 39 (a)
OneToMany
Species with no ortholog for BTN3A1:
  • 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

Selected 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 MAF
rs742090 -- 26,415,409(-) gaact(G/T)tgaac downstream-variant-500B
rs1033402 -- 26,403,062(-) TTGTA(C/T)ATTCA intron-variant
rs1057932 -- 26,407,845(+) GTATG(A/C)AGTAG missense, reference, intron-variant
rs1057933 - 26,407,908(+) CAGAA(A/G)TTCCC missense, reference, intron-variant
rs1741737 -- 26,400,688(+) gtttg(G/T)tttgt upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv883491 CNV Loss 21882294
dgv6440n71 CNV Loss 21882294
nsv883496 CNV Gain 21882294
nsv883499 CNV Gain 21882294
esv2731728 CNV Deletion 23290073
esv2731730 CNV Deletion 23290073

Relevant External Links for BTN3A1 Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with BTN3A1: view

No data available for UniProtKB/Swiss-Prot for BTN3A1 Gene

Publications for BTN3A1 Gene

  1. 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 23
  2. 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
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Common variants on chromosome 6p22.1 are associated with schizophrenia. (PMID: 19571809) Shi J. … Gejman P.V. (Nature 2009) 3 48

Products for BTN3A1 Gene

Sources for BTN3A1 Gene

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