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Aliases for BTN1A1 Gene

Aliases for BTN1A1 Gene

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

External Ids for BTN1A1 Gene

Previous HGNC Symbols for BTN1A1 Gene

  • BTN

Previous GeneCards Identifiers for BTN1A1 Gene

  • GC06P026558
  • GC06P026608
  • GC06P026501
  • GC06P026444
  • GC06P026500

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. Among its related pathways are Butyrophilin (BTN) family interactions and Innate Immune System. An important paralog of this gene is BTN3A3.

UniProtKB/Swiss-Prot 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

Additional gene information for BTN1A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTN1A1 Gene

Genomics for BTN1A1 Gene

GeneHancer (GH) Regulatory Elements for BTN1A1 Gene

Promoters and enhancers for BTN1A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J026439 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11.8 -58.8 -58843 2.5 HDGF ATF1 FOXA2 DMAP1 ZNF2 YY1 ZNF207 CAVIN1 NFYC NCOA1 BTN3A3 BTN3A2 BTN2A1 BTN3A1 ENSG00000271755 BTN2A2 BTN1A1 BTN2A3P ZNF204P
GH06J026520 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE 11.2 +22.5 22455 3.4 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GC06P027198 GC06P027204 HCG11 TRL-CAG1-7 PIR62171 ABT1 ZNF322 LOC102724851 BTN2A3P HMGN4
GH06J026401 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 11.2 -97.0 -97047 2.3 HDGF FOXA2 ATF1 SMAD1 ARNT ARID4B DMAP1 ZNF48 YY1 SLC30A9 BTN3A1 BTN3A2 BTN2A1 BTN2A2 BTN1A1 HMGN4 HIST1H4H HIST1H2APS4 HIST1H3G BTN2A3P
GH06J026531 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11 +33.8 33786 2.2 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 GC06M026696 TRT-AGT2-1 BTN2A1 ABT1 HMGN4 BTN3A2 BTN2A3P BTN2A2 ZNF322 LOC102724851
GH06J026471 Enhancer 1.5 Ensembl ENCODE dbSUPER 12.1 -23.5 -23525 7.6 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 BTN2A2 BTN3A2 BTN2A1 HMGN4 BTN2A3P ABT1 HCG11 RNU6-502P BTN1A1 BTN3A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BTN1A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTN1A1 gene promoter:

Genomic Locations for BTN1A1 Gene

Genomic Locations for BTN1A1 Gene
chr6:26,499,306-26,510,425
(GRCh38/hg38)
Size:
11,120 bases
Orientation:
Plus strand
chr6:26,501,449-26,510,653
(GRCh37/hg19)

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

Suggested Antigen Peptide Sequences for BTN1A1 Gene

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 --
GO:0005515 protein binding IEA --
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 Model Products

  • Taconic Biosciences Mouse Models for BTN1A1

miRNA for BTN1A1 Gene

Clone Products

  • R&D Systems cDNA Clones for BTN1A1 (BTN1A1/Butyrophilin)

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
lysosome 2
mitochondrion 1
peroxisome 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 --
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 --
GO:0007165 signal transduction IEA --
GO:0050776 regulation of immune response IBA --
GO:0050852 T cell receptor signaling pathway IBA --
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

(10) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BTN1A1 Gene

Butyrophilin, subfamily 1, member A1:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for BTN1A1 (BTN1A1/Butyrophilin)

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

No ASD Table

Relevant External Links for BTN1A1 Gene

GeneLoc Exon Structure for
BTN1A1
ECgene alternative splicing isoforms for
BTN1A1

Expression for BTN1A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of BTN1A1 Gene:

BTN1A1

SOURCE GeneReport for Unigene cluster for BTN1A1 Gene:

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

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 34 33
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BTN1A1 34 33
  • 86.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BTN1A1 34 33
  • 84.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Btn1a1 16 34 33
  • 80.18 (n)
rat
(Rattus norvegicus)
Mammalia Btn1a1 33
  • 79.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 43 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 38 (a)
ManyToMany
chicken
(Gallus gallus)
Aves BTN1A1 33
  • 54.63 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100144947 33
  • 46.81 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101885077 33
  • 50.27 (n)
Species where no ortholog for BTN1A1 was found in the sources mined by GeneCards:
  • 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)
  • 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 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)
  • 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

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

Variants for BTN1A1 Gene

Sequence variations from dbSNP and Humsavar for BTN1A1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000092679 -- 26,503,844(+) G/C intron_variant
rs1000264076 -- 26,504,260(+) G/T intron_variant
rs1000971796 -- 26,509,547(+) A/C 3_prime_UTR_variant
rs1001237209 -- 26,505,853(+) T/C intron_variant
rs1001266921 -- 26,506,156(+) A/G intron_variant

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

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

Disorders for BTN1A1 Gene

Additional Disease Information for BTN1A1

No disorders were found for BTN1A1 Gene.

No data available for MalaCards , 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 44 58
  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 22 58
  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 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. The cluster of BTN genes in the extended major histocompatibility complex. (PMID: 11170752) Rhodes DA … Trowsdale J (Genomics 2001) 3 22 58

Products for BTN1A1 Gene

Sources for BTN1A1 Gene

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