BTN3A1 Gene (Protein Coding)

Butyrophilin Subfamily 3 Member A1

GC06P026402
GIFtS:
39
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 ... See more...

Aliases for BTN3A1 Gene

Aliases for BTN3A1 Gene

  • Butyrophilin Subfamily 3 Member A1 2 3 4 5
  • BTF5 2 3 4
  • BTN3.1 2 3
  • BT3.1 2 3
  • CD277 2 3
  • DJ45P21.3 (Butyrophilin, Subfamily 3, Member A1) 3
  • Butyrophilin, Subfamily 3, Member A1 2
  • CD277 Antigen 4
  • BTN3A1 5

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. Diseases associated with BTN3A1 include Enterokinase Deficiency. Among its related pathways are Butyrophilin (BTN) family interactions and Innate Immune System. An important paralog of this gene is BTN3A3.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for BTN3A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTN3A1 Gene

Genomics for BTN3A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BTN3A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTN3A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTN3A1

Top Transcription factor binding sites by QIAGEN in the BTN3A1 gene promoter:
  • ATF6
  • Elk-1
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • p53
  • POU2F1
  • POU2F1a
  • STAT3

Genomic Locations for BTN3A1 Gene

Genomic Locations for BTN3A1 Gene
chr6:26,402,237-26,415,216
(GRCh38/hg38)
Size:
12,980 bases
Orientation:
Plus strand
chr6:26,402,465-26,415,444
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for BTN3A1 Gene

Proteins for BTN3A1 Gene

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  • 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=Truncated N-terminus.; 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

Protein Expression for BTN3A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BTN3A1 Gene

Other Protein References for BTN3A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BTN3A1 Gene

Domains & Families for BTN3A1 Gene

Gene Families for BTN3A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BTN3A1 Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
  • Immunoglobulin subtype
  • Butyrophylin C-terminal DUF signature
  • SPRY-associated domain
ProtoNet:

Suggested Antigen Peptide Sequences for BTN3A1 Gene

GenScript: Design optimal peptide antigens:
  • Butyrophilin subfamily 3 member A1 (BT3A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00481

UniProtKB/Swiss-Prot:

BT3A1_HUMAN :
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
Family:
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
genes like me logo Genes that share domains with BTN3A1: view

Function for BTN3A1 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for BTN3A1 Gene

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.
GENATLAS Biochemistry:
butyrophilin subfamily 3,member A1,B box family of proteins,involved in cell proliferation and development

Phenotypes From GWAS Catalog for BTN3A1 Gene

Gene Ontology (GO) - Molecular Function for BTN3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTN3A1

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 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BTN3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
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

Gene Ontology (GO) - Biological Process for BTN3A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production IBA 21873635
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0050663 cytokine secretion IDA 21918970
GO:0050776 regulation of immune response IBA 21873635
genes like me logo Genes that share ontologies with BTN3A1: view

No data available for SIGNOR curated interactions for BTN3A1 Gene

Drugs & Compounds for BTN3A1 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for BTN3A1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BTN3A1 Gene

4 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTN3A1

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

Expression for BTN3A1 Gene

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for BTN3A1 Gene
mRNA expression by BioGPS for BTN3A1 GenemRNA expression by GTEx for BTN3A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Spleen (Hematopoietic System)

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for BTN3A1 Gene

  • Nervous system(4.6)
  • Spleen(3)
  • Blood(3)
  • Lymph node(2.7)
  • Intestine(2.4)
  • Skin(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with BTN3A1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30
  • 99.42 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 39 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 35 (a)
 ManyToMany
Mouse
(Mus musculus)
 Mammalia Btnl6 31
  • 34 (a)
 ManyToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 27 (a)
 ManyToMany
Species where no ortholog for BTN3A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for BTN3A1: view image

Paralogs for BTN3A1 Gene

Paralogs for BTN3A1 Gene

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

  • BT3A1_HUMAN
  • A6PVC0_HUMAN
  • E7EPR2_HUMAN
  • E9PFB8_HUMAN

Pseudogenes.org Pseudogenes for BTN3A1 Gene

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

Variants for BTN3A1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTN3A1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
722243 Likely Benign: not provided 26,413,296(+) T/A NONSENSE,THREE_PRIME_UTR_VARIANT
730259 Benign: not provided 26,413,677(+) T/C SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
770726 Likely Benign: not provided 26,407,917(+) T/A MISSENSE_VARIANT
rs1057933 - p.Ser224Asn
rs41266839 - p.Arg282Thr

Additional dbSNP identifiers (rs#s) for BTN3A1 Gene

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

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

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for BTN3A1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
enterokinase deficiency
  • enteropeptidase deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BTN3A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BTN3A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 DA … Feder JN (Genome research 1997) 2 3 4
  3. The molecular basis for modulation of human Vγ9Vδ2 T cell responses by CD277/butyrophilin-3 (BTN3A)-specific antibodies. (PMID: 22846996) Palakodeti A … Adams EJ (The Journal of biological chemistry 2012) 3 4
  4. Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human γδ T-cell subset. (PMID: 22767497) Harly C … Scotet E (Blood 2012) 3 4
  5. Differential role for CD277 as a co-regulator of the immune signal in T and NK cells. (PMID: 21918970) Messal N … Olive D (European journal of immunology 2011) 3 4

ExternalLinks

View latest publications for BTN3A1 gene in Mastermind

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