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Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral g... See more...
Aliases for BTN1A1 Gene
Aliases for BTN1A1 Gene
External Ids for BTN1A1 Gene
- HGNC: 1135
- Entrez Gene: 696
- Ensembl: ENSG00000124557
- OMIM: 601610
- UniProtKB: Q13410
Previous HGNC Symbols for BTN1A1 Gene
- BTN
Previous GeneCards Identifiers for BTN1A1 Gene
- GC06P026558
- GC06P026608
- GC06P026501
- GC06P026444
- GC06P026499
Summaries for BTN1A1 Gene
-
Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
GeneCards Summary for BTN1A1 Gene
BTN1A1 (Butyrophilin Subfamily 1 Member A1) is a Protein Coding gene. Diseases associated with BTN1A1 include Epilepsy, Juvenile Absence 1. 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 BTN1A1 Gene
-
May function in the secretion of milk-fat droplets. May act as a specific membrane-associated receptor for the association of cytoplasmic droplets with the apical plasma membrane (By similarity). Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion (By similarity).
Additional gene information for BTN1A1 Gene
- HGNC(1135)
- Entrez Gene(696)
- Ensembl(ENSG00000124557)
- OMIM(601610)
- UniProtKB(Q13410)
- Open Targets Platform(ENSG00000124557)
- Search for BTN1A1 at DataMed
- Search for BTN1A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTN1A1 Gene
Genomics for BTN1A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BTN1A1 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 BTN1A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTN1A1
- Top Transcription factor binding sites by QIAGEN in the BTN1A1 gene promoter:
-
- Brachyury
- FOXD1
- FOXO1
- FOXO1a
- Lhx3a
- LHX3b
- Nkx6-1
- p53
- Pax-5
- Pbx1a
Genomic Locations for BTN1A1 Gene
Genomic Locations for BTN1A1 Gene
- chr6:26,500,303-26,510,425
- (GRCh38/hg38)
- Size:
- 10,123 bases
- Orientation:
- Plus strand
- chr6:26,501,449-26,510,653
- (GRCh37/hg19)
- Size:
- 9,205 bases
- Orientation:
- Plus strand
Genomic View for BTN1A1 Gene
Genes around BTN1A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by HGNC
- 6p22.2 by Entrez Gene
- 6p22.2 by Ensembl
BTN1A1 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 BTN1A1 Gene
Proteins for BTN1A1 Gene
-
Protein details for BTN1A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13410-BT1A1_HUMAN
- Recommended name:
- Butyrophilin subfamily 1 member A1
- Protein Accession:
- Q13410
- Q4VAN3
- Q4VAN4
- Q9H458
Protein attributes for BTN1A1 Gene
- Size:
- 526 amino acids
- Molecular mass:
- 58960 Da
- Quaternary structure:
-
- Seems to associate with xanthine dehydrogenase/oxidase.
Protein Expression for BTN1A1 Gene
Post-translational modifications for BTN1A1 Gene
- N-glycosylated.
-
Glycosylation at Asn55 and Asn215
- NX_Q13410 (NX_Q13410-1)
- Modification sites at PhosphoSitePlus
Other Protein References for BTN1A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for BTN1A1
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-
Abcam antibodies for BTN1A1
- Invitrogen Antibodies for BTN1A1 (AFLGC-BTN1A1)
-
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Protein Products
- G Biosciences Human Butyrophilin/BTN, Lyophilized
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-
Signalway Proteins for BTN1A1
-
Abcam proteins for BTN1A1
Assay Products
- antibodies-online: Show 6 available BTN1A1 Elisa Kits ranked by validation data
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Quality Products:
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Signalway ELISA kits for BTN1A1
No data available for DME Specific Peptides for BTN1A1 Gene
Domains & Families for BTN1A1 Gene
Gene Families for BTN1A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for BTN1A1 Gene
- InterPro:
- Blocks:
-
- Immunoglobulin V-type
- Butyrophylin C-terminal DUF signature
- SPRY-associated domain
- ProtoNet:
Suggested Antigen Peptide Sequences for BTN1A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Butyrophilin subfamily 1 member A1 (BT1A1_HUMAN)
- Butyrophilin, subfamily 1, member A1 (Q4VAN2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13410- Family:
-
- Belongs to the immunoglobulin superfamily. BTN/MOG family.
Function for BTN1A1 Gene
Molecular function for BTN1A1 Gene
- UniProtKB/Swiss-Prot Function:
- May function in the secretion of milk-fat droplets. May act as a specific membrane-associated receptor for the association of cytoplasmic droplets with the apical plasma membrane (By similarity). Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion (By similarity).
- GENATLAS Biochemistry:
- butyrophilin,subfamily 1,member A1,B box family of proteins,involved in cell proliferation and development
Phenotypes From GWAS Catalog for BTN1A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | IBA | 21873635 |
| GO:0005515 | protein binding | IEA | -- |
| GO:0038023 | signaling receptor activity | TAS | 8611614 |
Phenotypes for BTN1A1 Gene
- MGI mutant phenotypes for BTN1A1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for BTN1A1:
Animal Models for BTN1A1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for BTN1A1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BTN1A1 - Select products 50% OFF >
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miRNA for BTN1A1 Gene
- miRTarBase miRNAs that target BTN1A1
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for BTN1A1
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Cell Line Products
-
Horizon Cell Lines for BTN1A1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BTN1A1 Gene
Localization for BTN1A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BTN1A1 Gene
- Membrane. Single-pass type I membrane protein. Secreted.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | HDA | 16502470 |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 8611614 |
| GO:0009897 | external side of plasma membrane | IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTN1A1 Gene
Pathways & Interactions for BTN1A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Butyrophilin (BTN) family interactions | ||
| 3 | Innate Immune System |
.61
|
|
Pathways by source for BTN1A1 Gene
3 Reactome pathways for BTN1A1 Gene
Interacting Proteins for BTN1A1 Gene
Selected Interacting proteins:
Q13410-BT1A1_HUMAN
ENSP00000244513
for BTN1A1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BTN1A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001817 | regulation of cytokine production | IBA | 21873635 |
| GO:0050776 | regulation of immune response | IBA | 21873635 |
| GO:0050852 | T cell receptor signaling pathway | IBA | 21873635 |
No data available for SIGNOR curated interactions for BTN1A1 Gene
Drugs & Compounds for BTN1A1 Gene
No Compound Related Data Available
Drug Products
- G Biosciences Human Butyrophilin/BTN, Lyophilized
Transcripts for BTN1A1 Gene
mRNA/cDNA for BTN1A1 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000244513 2895 nts (view in UCSC)
- ENST00000613186 2266 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BTN1A1 - Select products 50% OFF >
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for BTN1A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BTN1A1
Relevant External Links for BTN1A1 Gene
- GeneLoc Exon Structure for
- BTN1A1
Expression for BTN1A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Brain (Nervous System)
- Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for BTN1A1 Gene
This gene is overexpressed in Breast - Mammary Tissue (x16.7) and Testis (x4.3).
This gene is overexpressed in Milk (68.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BTN1A1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTN1A1
SOURCE GeneReport for Unigene cluster for BTN1A1 Gene:
Hs.153058Evidence on tissue expression from TISSUES for BTN1A1 Gene
- Skin(2.1)
Primer Products
-
OriGene qPCR primer pairs for BTN1A1
-
OriGene qPCR primer pairs and template standards for BTN1A1
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTN1A1 Gene
Orthologs for BTN1A1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BTN1A1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BTN1A1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BTN1A1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Btn1a1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Btn1a1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | BTN1A1 30 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100144947 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC101885077 30 |
|
- Species where no ortholog for BTN1A1 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)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- 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)
- 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)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for BTN1A1 Gene
- ENSEMBL:
- Gene Tree for BTN1A1 (if available)
- TreeFam:
- Gene Tree for BTN1A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BTN1A1: view image
Paralogs for BTN1A1 Gene
Paralogs for BTN1A1 Gene
(14) SIMAP similar genes for BTN1A1 Gene using alignment to 3 proteins:
- BT1A1_HUMAN
- Q4VAN1_HUMAN
- Q4VAN2_HUMAN
Pseudogenes.org Pseudogenes for BTN1A1 Gene
Variants for BTN1A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTN1A1 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 778886 | Benign: not provided | 26,507,966(+) | A/C | MISSENSE_VARIANT | |
| 784632 | Benign: not provided | 26,508,062(+) | A/G | SYNONYMOUS_VARIANT | |
| 789587 | Benign: not provided | 26,509,164(+) | G/A | MISSENSE_VARIANT | |
| rs1980600 | - | p.Val303Ala | |||
| rs35555795 | - | p.Pro521Ser |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1023453 | CNV | gain | 25217958 |
| nsv1031938 | CNV | loss | 25217958 |
Residual Variation Intolerance Score:
93.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.90;
48.67% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BTN1A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTN1A1 Gene
Disorders for BTN1A1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epilepsy, juvenile absence 1 |
|
|
Search BTN1A1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for BTN1A1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for BTN1A1 Gene
Publications for BTN1A1 Gene
- Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. (PMID: 19084217) Benyamin B … Visscher PM (American journal of human genetics 2009) 3 41
- The PRY/SPRY/B30.2 domain of butyrophilin 1A1 (BTN1A1) binds to xanthine oxidoreductase: implications for the function of BTN1A1 in the mammary gland and other tissues. (PMID: 19531472) Jeong J … Mather IH (The Journal of biological chemistry 2009) 3 23
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
- The cluster of BTN genes in the extended major histocompatibility complex. (PMID: 11170752) Rhodes DA … Trowsdale J (Genomics 2001) 3 23
ExternalLinks
Products for BTN1A1 Gene
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- Biorbyt antibodies for BTN1A1
Sources for BTN1A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
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