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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BTN1A1 Gene

protein-coding   GIFtS: 52
GCID: GC06P026501

butyrophilin, subfamily 1, member A1


(Previous symbol: BTN)
 Explore 4 diseases affiliated with
BTN1A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BTN1A1    

Aliases
for BTN1A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Butyrophilin, Subfamily 1, Member A11 2
BTN1 2 3 5
BT1 2 3
BK14H9.2 (Butyrophilin, Subfamily 1, Member A1)2
Butyrophilin Subfamily 1 Member A12

External Ids:    HGNC: 11351   Entrez Gene: 6962   Ensembl: ENSG000001245577   OMIM: 6016105   UniProtKB: Q134103   

Export aliases for BTN1A1 gene to outside databases

Previous GC identifers: GC06P026558 GC06P026608 GC06P026444


Summaries
for BTN1A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for BTN1A1:
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)

UniProtKB/Swiss-Prot: BT1A1_HUMAN, Q13410
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)

Gene Wiki entry for BTN1A1 (Butyrophilin, subfamily 1, member A1)


Genomic Views
for BTN1A1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTN1A1 gene promoter:
         LHX3b/Lhx3b   Pbx1a   Pax-5   p53   Brachyury   FOXD1   Nkx6-1   FOXO1a   LHX3a/Lhx3a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BTN1A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BTN1A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTN1A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.1   Ensembl cytogenetic band:  6p22.2   HGNC cytogenetic band: 6p22.1

BTN1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTN1A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P026501:  view genomic region     (about GC identifiers)

Start:
 26,501,449 bp from pter      End:
 26,510,653 bp from pter
Size:
 9,205 bases      Orientation:
 plus strand

Proteins
for BTN1A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: BT1A1_HUMAN, Q13410 (See protein sequence)
Recommended Name: Butyrophilin subfamily 1 member A1 precursor  
Size: 526 amino acids; 58960 Da
Subunit: Seems to associate with xanthine dehydrogenase/oxidase (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein. Secreted
Secondary accessions: Q4VAN3 Q4VAN4 Q9H458

Explore the universe of human proteins at neXtProt for BTN1A1: NX_Q13410

Post-translational modifications:

  • N-glycosylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13410

    • BTN1A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001723.2  
    ENSEMBL proteins: 
     ENSP00000244513  

    Human Recombinant Protein Products: 
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    Novus Biologicals BTN1A1 Proteins
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BTN1A1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005887integral to plasma membrane TAS8611614


    BTN1A1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for BTN1A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BTN1A1 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR007110 Ig-like_dom
     IPR006574 PRY
     IPR013162 CD80_C2-set
     IPR001870 B30.2/SPRY
     IPR003877 SPRY_rcpt

    Graphical View of Domain Structure for InterPro Entry Q13410

    ProtoNet protein and cluster: Q13410

    3 Blocks protein families:
    IPB003596 Immunoglobulin V-type
    IPB003879 Butyrophylin C-terminal DUF signature
    IPB006574 SPRY-associated domain


    UniProtKB/Swiss-Prot: BT1A1_HUMAN, Q13410
    Similarity: Belongs to the immunoglobulin superfamily. BTN/MOG family
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 2 Ig-like V-type (immunoglobulin-like) domains


    Function
    for BTN1A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: BT1A1_HUMAN, Q13410
    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 entry for BTN1A1:
    butyrophilin,subfamily 1,member A1,B box family of proteins,involved in cell proliferation and development

    miRNA
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    hsa-miR-4291
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS8611614
    GO:0005515protein binding ----


    BTN1A1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for BTN1A1:
     Increased HPV18 LCR reporter a 

    Animal Models:
         Mouse knock-outs for BTN1A1: Btn1a1tm1Ihm Btn1a1tm2Ihm
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Btn1a1):
     endocrine/exocrine gland  integument 

    BTN1A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BTN1A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BTN1A1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BTN1A1 (Q134103 ENSP000002445134) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XDHP479893, ENSP000003687274I2D: score=1 STRING: ENSP00000368727
    PLK1P533503, ENSP000003000934I2D: score=2 STRING: ENSP00000300093
    About this table

    Drugs & Compounds
    for BTN1A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BTN1A1
    Search CenterWatch for drugs/clinical trials and news about BTN1A1 / BT1A1 

    Transcripts
    for BTN1A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for BTN1A1 gene: 
    NM_001732.2  

    Unigene Cluster for BTN1A1:

    Butyrophilin, subfamily 1, member A1
    Hs.153058  [show with all ESTs]
    Unigene Representative Sequence: U39576
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000244513(uc003nif.4)

    miRNA
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    hsa-miR-4291
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    BC096312.3 BC096313.1 BC096314.1 BC096315.1 U39576.1 

    2 DOTS entries:

    DT.453220  DT.121407003 

    10 AceView cDNA sequences:

    AA805147 AA280049 AA279987 BX106561 AA768577 U39576 NM_001732 AA731332 
    BU430550 AW977526 

    GeneLoc Exon Structure


    Expression
    for BTN1A1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BTN1A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGCTTGTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BTN1A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BTN1A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTN1A1

    SOURCE GeneReport for Unigene cluster: Hs.153058
        SABiosciences Custom PCR Arrays for BTN1A1
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    In Situ
    Assay Products:     
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    Orthologs
    for BTN1A1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for BTN1A1 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves BTN1A11 butyrophilin, subfamily 1, member A1 54.54(n)
    41.65(a)    		   420061  NM_001034817.1  NP_001029989.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1005356451 butyrophilin subfamily 1 member A1-like 45.71(n)
    34.07(a)    		   100535645  XM_003198053.1  XP_003198101.1 


    ENSEMBL Gene Tree for BTN1A1 (if available)
    TreeFam Gene Tree for BTN1A1 (if available) 

    Paralogs
    for BTN1A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTN1A1 gene
    BTN3A22  BTN2A12  BTNL82  ERMAP2  BTN3A32  BTN2A22  HHLA22  CD2762  
    BTNL102  MOG2  BTNL22  BTN3A12  VTCN12  BTNL92  BTNL32  
    16 SIMAP similar genes for BTN1A1 using alignment to 3 protein entries:     BT1A1_HUMAN (see all proteins):
    MOG    TRIM27    TRIM11    BTN2A2    BTNL2    BTN2A3P
    BTN3A3    BTN2A1    BTN3A2    BTN3A1    BTNL8    BTNL9
    BTNL3    RFPL3    RFPL1    DKFZp434N1710

    BTN1A1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for BTN1A1
    PGOHUM00000244693 PGOHUM00000243523


    Genomic Variants
    for BTN1A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/180 NCBI SNPs in BTN1A1 are shown (see all 180)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1498867411,2
    		C,F,other26505268(+) TCCAAG/AGGAGA 2 /K syn11Minor allele frequency- A:0.00NA 4550
    rs1893642491,2
    		--26499576(+) ATAAAA/GACTTA 1 -- us2k10--------
    rs1819400701,2
    		--26499578(+) AAAGAC/TTTATA 1 -- us2k10--------
    rs1850233291,2
    		--26499593(+) AAGTGC/TATTAT 1 -- us2k10--------
    rs1902040451,2
    		--26499660(+) AACAAC/TATTTT 1 -- us2k10--------
    rs1819028181,2
    		--26499753(+) GAATTA/GAGGCT 1 -- us2k10--------
    rs745038241,2
    		C,--26499882(+) ATGATA/GAGTTG 1 -- us2k10--------
    rs69266291,2
    		C,F,A,H,--26499903(+) AATAAC/TTGTCA 1 -- us2k124Minor allele frequency- T:0.46NS EA NA WA CSA 2486
    rs69039731,2
    		C,F,A,H,--26499942(+) GAATTA/CACAGC 1 -- us2k121Minor allele frequency- C:0.46NS EA NA WA CSA 2330
    rs93937271,2
    		C,F,A,--26500011(+) ACGGAC/GGCTCC 1 -- us2k110Minor allele frequency- G:0.18NA WA EA 508

    HapMap Linkage Disequilibrium report for BTN1A1 (26501449 - 26510653 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BTN1A1: --
    Human Gene Mutation Database (HGMD): BTN1A1

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    Disorders / Diseases
    for BTN1A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    BTN1A1 for disorders           About GeneDecksing

    OMIM gene information: 601610    OMIM disorders: --

    4 diseases for BTN1A1:    About MalaCards
    multiple sclerosis    encephalomyelitis    pneumonia    neuronitis

    1 Novoseek disease relationship for BTN1A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mimicry 53 2 14978022 (1), 14688379 (1)


    Export disorders for BTN1A1 gene to outside databases

    Publications
    for BTN1A1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BTN1A1 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with BTN1A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    3. Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex. (PubMed id 9382921)1, 3 Tazi-Ahnini R....Pontarotti P. (1997)
    4. Cloning and sequence analysis of human butyrophilin reveals a potential receptor function. (PubMed id 8611614)1, 2 Taylor M.R.... Couto J.R. (1996)
    5. Evolutionary study of multigenic families mapping close to the human MHC class I region. (PubMed id 8114113)1, 3 Vernet C....Pontarotti P. (1993)
    6. 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. (PubMed id 19531472)1, 9 Jeong J....Mather I.H. (2009)
    7. The cluster of BTN genes in the extended major histocompatibility complex. (PubMed id 11170752)1, 9 Rhodes D.A.... Trowsdale J. (2001)
    8. Akt1 is essential for postnatal mammary gland develop ment, function, and the expression of Btn1a1. (PubMed id 21915327)1 LaRocca J....Hixon M. (2011)
    9. Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. (PubMed id 19084217)1 Benyamin B....Visscher P.M. (2009)
    10. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. (PubMed id 19596235)1 Svendsen J.M.... Harper J.W. (2009)

    External Searches for BTN1A1 gene

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    Genome Databases showing BTN1A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 696 HGNC: 1135 AceView: BTN1A1 Ensembl:ENSG00000124557 euGenes: HUgn696
    ECgene: BTN1A1 H-InvDB: BTN1A1

    Other Databases showing BTN1A1 gene

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    Specialized Databases showing BTN1A1 gene

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    PharmGKB entry for BTN1A1 Pharmacogenomics, SNPs, Pathways

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