Aliases for BTN3A1 Gene
Aliases for BTN3A1 Gene
External Ids for BTN3A1 Gene
- HGNC: 1138
- Entrez Gene: 11119
- Ensembl: ENSG00000026950
- OMIM: 613593
- UniProtKB: O00481
Previous GeneCards Identifiers for BTN3A1 Gene
- GC06P026460
- GC06P026465
- GC06P026510
- GC06P026345
Summaries 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 T Cell Co-Signaling Pathway: Ligand-Receptor Interactions. An important paralog of this gene is BTNL8.
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.
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 | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
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 |
|---|
ENSRs around BTN3A1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the BTN3A1 gene promoter:
Regulatory Element Products
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:
-
- 6p22.2 by Ensembl
- 6p22.1 by Entrez Gene
- 6p22.1 by HGNC
BTN3A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for BTN3A1 Gene
Post-translational modifications for BTN3A1 Gene
- N-glycosylated.
- Glycosylation at Asn 115
- Modification sites at PhosphoSitePlus
Other Protein References for BTN3A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for BTN3A1 (CD277/BTN3A1)
-
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- antibodies-online Antibodies for BTN3A1: See all 25
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-
Santa Cruz Biotechnology (SCBT) Antibodies for BTN3A1
Protein Products
- R&D Systems Proteins and Enzymes for BTN3A1 (CD277/BTN3A1)
-
OriGene Purified Proteins for BTN3A1
- Search Origene for MassSpec and Protein Over-expression Lysates for BTN3A1
- Origene Custom Protein Services for BTN3A1
- antibodies-online Proteins for BTN3A1: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for BTN3A1
Assay Products
No data available for DME Specific Peptides for BTN3A1 Gene
Domains & Families for BTN3A1 Gene
Gene Families for BTN3A1 Gene
Protein Domains for BTN3A1 Gene
Suggested Antigen Peptide Sequences for BTN3A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O00481UniProtKB/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.
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.
Phenotypes for BTN3A1 Gene
Animal Model Products
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ViGene Biosciences lentiviral particle packaged cDNA for BTN3A1 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for BTN3A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTN3A1
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miRNA for BTN3A1 Gene
- miRTarBase miRNAs that target BTN3A1
miRNA Products
- Search ViGene Biosciences for BTN3A1
Inhibitory RNA Products
- Origene siRNA, shRNA, and RNAi products in human, mouse, rat for BTN3A1
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Clone Products
- OriGene clones in human for BTN3A1
- OriGene ORF clones in human for BTN3A1
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- Sino Biological Human cDNA Clone for BTN3A1
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Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for BTN3A1 gene
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
No data available for Gene Ontology (GO) - Cellular Components for BTN3A1 Gene
Pathways & Interactions for BTN3A1 Gene
More details on SuperPathways for BTN3A1| Superpath | Contained pathways | |
|---|---|---|
| 1 | T Cell Co-Signaling Pathway: Ligand-Receptor Interactions |
Pathways by source for BTN3A1 Gene
1 R&D Systems pathway for BTN3A1 Gene
Interacting Proteins for BTN3A1 Gene
Selected Interacting proteins:
ENSP00000289361
O00481-BT3A1_HUMAN
for BTN3A1 Gene via
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0072643 | interferon-gamma secretion | IMP | 21918970 |
No data available for SIGNOR curated interactions for BTN3A1 Gene
Transcripts for BTN3A1 Gene
mRNA/cDNA for BTN3A1 Gene
- (9) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (66) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for BTN3A1 Gene
- Butyrophilin, subfamily 3, member A1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for BTN3A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTN3A1
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miRNA Products
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Inhibitory RNA Products
- Origene siRNA, shRNA, and RNAi products in human, mouse, rat for BTN3A1
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-
ViGene Biosciences ready-to-package AAV shRNAs for BTN3A1 gene
Clone Products
- OriGene clones in human for BTN3A1
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||
| SP2: | |||||||||||||||
| SP3: | |||||||||||||||
| SP4: | - | - |
Expression 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).
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
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.
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for BTN3A1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BTN3A1 35 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 36 |
|
ManyToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 36 |
|
ManyToMany | |
| mouse (Mus musculus) |
Mammalia | Btnl6 36 |
|
ManyToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 36 |
|
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)
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
Variants for BTN3A1 Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_021170 | - | ||||
| VAR_028788 | - | ||||
| VAR_061305 | - | ||||
| VAR_061306 | - |
| 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 |
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)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for BTN3A1 Gene
Disorders for BTN3A1 Gene
Relevant External Links for 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
- 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 67
- 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 23
- Activation of human I^I' T cells by cytosolic interactions of BTN3A1 with soluble phosphoantigens and the cytoskeletal adaptor periplakin. (PMID: 25637025) Rhodes D.A. … Trowsdale J. (J. Immunol. 2015) 3
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
- Sensor Function for Butyrophilin 3A1 in Prenyl Pyrophosphate Stimulation of Human VI^2VI'2 T Cells. (PMID: 26475929) Wang H. … Morita C.T. (J. Immunol. 2015) 3
Products for BTN3A1 Gene
- R&D Systems Antibodies for BTN3A1 (CD277/BTN3A1)
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- OriGene qPCR primer pairs for BTN3A1
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- Novus Biologicals Antibodies for BTN3A1
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- Novus Biologicals
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- antibodies-online Antibodies for BTN3A1: See all 25
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- antibodies-online Proteins for BTN3A1: See all 3
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- GeneTex BTN3A1 antibody for BTN3A1
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- ViGene Biosciences adenoviral particle packaged cDNA for BTN3A1 gene
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- Santa Cruz Biotechnology (SCBT) CRISPR for BTN3A1
Sources for BTN3A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
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- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
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- (113) antibodies-online
- (114) CYP
- (115) NONCODE
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- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon