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

  • Butyrophilin Subfamily 1 Member A1 2 3 4 5
  • BT 2 3 4
  • BTN1 2 3
  • BTN 3 4
  • BK14H9.2 (Butyrophilin, Subfamily 1, Member A1) 3
  • Butyrophilin, Subfamily 1, Member A1 2
  • BTN1A1 5

External Ids for BTN1A1 Gene

Previous HGNC Symbols for BTN1A1 Gene

  • BTN

Previous GeneCards Identifiers for BTN1A1 Gene

  • GC06P026558
  • GC06P026608
  • GC06P026501
  • GC06P026444
  • GC06P026499

Summaries for BTN1A1 Gene

Entrez Gene Summary 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 Innate Immune System and Butyrophilin (BTN) family interactions. 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).

Gene Wiki entry for BTN1A1 Gene

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

Latest Assembly
chr6:26,500,303-26,510,425
(GRCh38/hg38)
Size:
10,123 bases
Orientation:
Plus strand

Previous Assembly
chr6:26,500,531-26,510,653
(GRCh37/hg19 by Entrez Gene)
Size:
10,123 bases
Orientation:
Plus strand

chr6:26,501,449-26,510,650
(GRCh37/hg19 by Ensembl)
Size:
9,202 bases
Orientation:
Plus strand

Genomic View for BTN1A1 Gene

Genes around BTN1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTN1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTN1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

neXtProt entry for BTN1A1 Gene

Post-translational modifications for BTN1A1 Gene

Other Protein References for BTN1A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

UniProtKB/Swiss-Prot:

BT1A1_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 BTN1A1: view

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

Gene Ontology (GO) - Molecular Function for BTN1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA 21873635
GO:0005515 protein binding IPI 32296183
GO:0038023 signaling receptor activity TAS 8611614
genes like me logo Genes that share ontologies with BTN1A1: view
genes like me logo Genes that share phenotypes with BTN1A1: view

Animal Models for BTN1A1 Gene

MGI Knock Outs for BTN1A1:

Animal Models for research

  • Taconic Biosciences Mouse Models for BTN1A1

Inhibitory RNAs for research

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

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 BTN1A1 gene
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

Gene Ontology (GO) - Cellular Components for BTN1A1 Gene

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
genes like me logo Genes that share ontologies with BTN1A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTN1A1 Gene

Pathways & Interactions for BTN1A1 Gene

genes like me logo Genes that share pathways with BTN1A1: view

Pathways by source for BTN1A1 Gene

Gene Ontology (GO) - Biological Process for BTN1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production IBA 21873635
GO:0050852 T cell receptor signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with BTN1A1: view

No data available for SIGNOR curated interactions for BTN1A1 Gene

Drugs & Compounds for BTN1A1 Gene

No Compound Related Data Available

Transcripts for BTN1A1 Gene

mRNA/cDNA for BTN1A1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTN1A1

Alternative Splicing Database (ASD) splice patterns (SP) for BTN1A1 Gene

No ASD Table

Relevant External Links for BTN1A1 Gene

GeneLoc Exon Structure for
BTN1A1

Expression for BTN1A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BTN1A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for BTN1A1 Gene

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



Protein tissue co-expression partners for BTN1A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTN1A1

SOURCE GeneReport for Unigene cluster for BTN1A1 Gene:

Hs.153058
genes like me logo Genes that share expression patterns with BTN1A1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES 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.

Orthologs for BTN1A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BTN1A1 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BTN1A1 30 31
  • 86.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BTN1A1 30 31
  • 84.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Btn1a1 30 17 31
  • 80.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Btn1a1 30
  • 79.5 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 43 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 38 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves BTN1A1 30
  • 54.63 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100144947 30
  • 46.81 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101885077 30
  • 50.27 (n)
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

(14) SIMAP similar genes for BTN1A1 Gene using alignment to 3 proteins:

  • BT1A1_HUMAN
  • Q4VAN1_HUMAN
  • Q4VAN2_HUMAN

Pseudogenes.org Pseudogenes for BTN1A1 Gene

genes like me logo Genes that share paralogs with BTN1A1: view

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
rs115774646 Benign: not provided 26,509,164(+) G/A
NM_001732.3(BTN1A1):c.1571G>A (p.Gly524Glu)
MISSENSE
rs41267931 Benign: not provided 26,508,062(+) A/G
NM_001732.3(BTN1A1):c.882A>G (p.Lys294=)
SYNONYMOUS
rs79402574 Benign: not provided 26,507,966(+) A/C
NM_001732.3(BTN1A1):c.876A>C (p.Glu292Asp)
MISSENSE
rs1980600 - p.Val303Ala
rs35555795 - p.Pro521Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BTN1A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BTN1A1 Gene

Variant ID Type Subtype PubMed ID
nsv1023453 CNV gain 25217958
nsv1031938 CNV loss 25217958

Variation tolerance for BTN1A1 Gene

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

Human Gene Mutation Database (HGMD)
BTN1A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTN1A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTN1A1 Gene

Disorders for BTN1A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BTN1A1 Gene - From: COP

Disorder Aliases PubMed IDs
epilepsy, juvenile absence 1
  • epilepsy, juvenile absence, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BTN1A1

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BTN1A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BTN1A1 Gene

Publications for BTN1A1 Gene

  1. 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
  2. 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
  3. 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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  5. The cluster of BTN genes in the extended major histocompatibility complex. (PMID: 11170752) Rhodes DA … Trowsdale J (Genomics 2001) 3 23

Products for BTN1A1 Gene

Sources for BTN1A1 Gene