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Aliases for BTN1A1 Gene

Aliases for BTN1A1 Gene

  • Butyrophilin Subfamily 1 Member A1 2 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. Diseases associated with BTN1A1 include Ceroid Lipofuscinosis, Neuronal, 3. Among its related pathways are T Cell Co-Signaling Pathway: Ligand-Receptor Interactions and Butyrophilin (BTN) family interactions. GO annotations related to this gene include receptor activity. 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

Regulatory Elements for BTN1A1 Gene

Enhancers for BTN1A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H026531 2 FANTOM5 Ensembl ENCODE dbSUPER 11 +33.8 33786 2 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 BTN2A1 BTN3A2 ABT1 HMGN4 ZNF322 LOC102724851 BTN2A3P BTN1A1 TRR-ACG1-2 TRT-AGT2-1
GH06H026471 1.6 Ensembl ENCODE dbSUPER 12.1 -23.5 -23526 7 HDGF PKNOX1 FOXA2 MLX ARNT SIN3A ARID4B FEZF1 DMAP1 ZNF2 BTN3A2 BTN2A2 HMGN4 BTN2A1 HCG11 BTN2A3P RNU6-502P BTN1A1 LOC102724851 HIST1H2AH
GH06H026330 1.7 Ensembl ENCODE dbSUPER 11 -167.9 -167880 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 BTN3A2 ABT1 HIST1H4H ZNF322 LOC102724851 HMGN4 BTN2A3P BTN1A1 HIST1H3G HIST1H2APS4
GH06H026567 1.7 Ensembl ENCODE dbSUPER 10.8 +71.2 71221 5 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC SSRP1 GLIS1 BTN3A2 HMGN4 ABT1 LOC102724851 BTN2A1 BTN2A3P ZNF322 HCG11 RNU6-502P BTN1A1
GH06H026520 1.6 FANTOM5 ENCODE 11.2 +22.5 22455 3 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D SSRP1 ZNF610 NBN ZNF322 LOC102724851 ABT1 BTN2A3P HMGN4 BTN1A1 GUSBP2 HIST1H2APS4 HIST1H3G BTN3A3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTN1A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BTN1A1 Gene

Chromosome:
6
Start:
26,499,306 bp from pter
End:
26,510,425 bp from pter
Size:
11,120 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

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

GENATLAS Biochemistry:
butyrophilin,subfamily 1,member A1,B box family of proteins,involved in cell proliferation and development
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).

Phenotypes From GWAS Catalog for BTN1A1 Gene

Gene Ontology (GO) - Molecular Function for BTN1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 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

CRISPR Products

miRNA for BTN1A1 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BTN1A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • 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 IDA 16502470
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8611614
GO:0016020 membrane IEA --
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

None

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

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

Unigene Clusters for BTN1A1 Gene

Butyrophilin, subfamily 1, member A1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BTN1A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • 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 33 34
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia BTN1A1 33 34
  • 86.06 (n)
dog
(Canis familiaris)
Mammalia BTN1A1 33 34
  • 84.64 (n)
mouse
(Mus musculus)
Mammalia Btn1a1 33 16 34
  • 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)

Paralogs for BTN1A1 Gene

Paralogs for BTN1A1 Gene

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

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 Sequence Context AA Info Type
rs1000092679 -- 26,503,844(+) AATTT(C/G)ATGGC intron-variant
rs1000264076 -- 26,504,260(+) ACCCA(G/T)TCCTA intron-variant
rs1000971796 -- 26,509,547(+) GAAAA(A/C)CAGGC intron-variant, utr-variant-3-prime
rs1001237209 -- 26,505,853(+) GTGGC(C/T)CACGC intron-variant
rs1001266921 -- 26,506,156(+) TTTCT(A/G)CTTTT 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)

Relevant External Links 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

MalaCards: The human disease database

(1) MalaCards diseases for BTN1A1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 3
  • batten disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BTN1A1

Genetic Association Database (GAD)
BTN1A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTN1A1
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. 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 60
  2. 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 45 60
  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 60
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 60
  5. The cluster of BTN genes in the extended major histocompatibility complex. (PMID: 11170752) Rhodes DA … Trowsdale J (Genomics 2001) 3 22 60

Products for BTN1A1 Gene

Sources for BTN1A1 Gene

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