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BPIFA3 Gene

protein-coding   GIFtS: 36
GCID: GC20P031806

BPI Fold Containing Family A, Member 3

(Previous name: chromosome 20 open reading frame 71)
(Previous symbol: C20orf71)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BPI Fold Containing Family A, Member 31 2     BPI Fold-Containing Family A Member 32
C20orf711 2 3     Short Long Palate, Lung And Nasal Epithelium Carcinoma Associated 32
SPLUNC32 3     Short Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 33
Chromosome 20 Open Reading Frame 711     

External Ids:    HGNC: 162041   Entrez Gene: 1288612   Ensembl: ENSG000001310597   UniProtKB: Q9BQP93   

Export aliases for BPIFA3 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BPIFA3 Gene:
BPIFA3 (BPI fold containing family A, member 3) is a protein-coding gene. GO annotations related to this gene include lipid binding. An important paralog of this gene is BPIFA1.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for BPIFA3
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BPIFA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BPIFA3


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

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.21

BPIFA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPIFA3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P031806:  view genomic region     (about GC identifiers)

Start:
31,805,116 bp from pter      End:
31,815,564 bp from pter
Size:
10,449 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BPIA3_HUMAN, Q9BQP9 (See protein sequence)
Recommended Name: BPI fold-containing family A member 3 precursor  
Size: 254 amino acids; 28436 Da
Secondary accessions: Q5JWG8 Q6NZ38
Alternative splicing: 2 isoforms:  Q9BQP9-1   Q9BQP9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BPIFA3: NX_Q9BQP9

Explore proteomics data for BPIFA3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn36

  • See BPIFA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001035904.1  NP_848561.2  

    ENSEMBL proteins: 
     ENSP00000364603   ENSP00000364601  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BPIF: BPI fold containing

    2 InterPro protein domains:
     IPR017942 Lipid-bd_serum_glycop_N
     IPR017943 Bactericidal_perm-incr_a/b_dom

    Graphical View of Domain Structure for InterPro Entry Q9BQP9

    ProtoNet protein and cluster: Q9BQP9

    UniProtKB/Swiss-Prot: BPIA3_HUMAN, Q9BQP9
    Similarity: Belongs to the BPI/LBP/Plunc superfamily. Plunc family


    Find genes that share domains with BPIFA3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008289lipid binding IEA--
         
    Find genes that share ontologies with BPIFA3           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BPIFA3

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BPIA3_HUMAN, Q9BQP9: Secreted (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with BPIFA3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BPIFA3
    Interactions:

        Search GeneGlobe Interaction Network for BPIFA3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BPIFA3 (BPIA3)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BPIFA3 gene (2 alternative transcripts): 
    NM_001042439.2  NM_178466.4  

    Unigene Cluster for BPIFA3:

    BPI fold containing family A, member 3
    Hs.360989  [show with all ESTs]
    Unigene Representative Sequence: NM_178466
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490499 ENST00000471233 ENST00000375454(uc002wyr.3 uc002wys.3)
    ENST00000375452
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    Additional mRNA sequence: BC066354.1 

    4 DOTS entries:

    DT.404854  DT.120811241  DT.100745059  DT.92433883 

    20 AceView cDNA sequences:

    NM_178466 AA971343 AA912681 BC041904 BX091954 BI562604 AW082233 BI826928 
    BC066354 AI073399 BG717907 AI017073 AI638623 BF966133 AW082161 AW072250 
    AA383555 BQ376632 AW340528 AL732092 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for BPIFA3    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
    SP1:                                                                  
    SP2:                    -           -                                 
    SP3:                    -                                             


    ECgene alternative splicing isoforms for BPIFA3

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BPIFA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGGCTGGA
    BPIFA3 Expression
    About this image

    BPIFA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BPIFA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.360989
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    In Situ
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    (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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for BPIFA3 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bpifa31 , 5 BPI fold containing family A, member 31, 5 77.2(n)1
    66.51(a)1
      2 (76.15 cM)5
    733881  NM_028528.21  NP_082804.11 
     1541303365 


    ENSEMBL Gene Tree for BPIFA3 (if available)
    TreeFam Gene Tree for BPIFA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BPIFA3 gene
    BPIFA12  

    Find genes that share paralogs with BPIFA3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BPIFA3 (see all 370)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1507320811,2
    --31803135(+) ACCCCA/GGTCTG 2 -- us2k10--------
    rs1848574481,2
    --31803141(+) GTCTGC/GGTGAC 2 -- us2k10--------
    rs1162487991,2
    C,F--31803186(+) GCACCG/AAGTTG 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1390972111,2
    C--31803203(+) AATCCA/GGTCCC 2 -- us2k10--------
    rs557099581,2
    C,F--31803210(+) TCCCCA/GGCCCC 2 -- us2k15Minor allele frequency- G:0.50WA CSA 124
    rs1451726521,2
    C--31803465(+) CAACCA/GCTTAC 2 -- us2k10--------
    rs171243861,2
    C,F,H--31803556(+) AGAAAG/CGACCT 2 -- us2k113Minor allele frequency- C:0.15NA NS EA WA CSA 688
    rs1866145041,2
    --31803565(+) CTCAAA/CCAGGG 2 -- us2k10--------
    rs1911111591,2
    --31803566(+) TCAAAC/TAGGGA 2 -- us2k10--------
    rs751607601,2
    C,F--31803710(+) TATGTC/TGCCCG 2 -- us2k11Minor allele frequency- T:0.02EA 120

    HapMap Linkage Disequilibrium report for BPIFA3 (31805116 - 31815564 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for BPIFA3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2145221CNV Deletion18987734
    esv2751912CNV Loss17911159
    nsv458964CNV Loss19166990

    Human Gene Mutation Database (HGMD): BPIFA3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with BPIFA3           About GenesLikeMe


    Export disorders for BPIFA3 gene to outside databases

    (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)
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    PubMed articles for BPIFA3 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with BPIFA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. (PubMed id 21787333)1, 3 Bingle C.D....Craven C.J. (Biochem. Soc. Trans. 2011)
    2. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PubMed id 11971875)1, 3 Bingle C.D. and Craven C.J. (Hum. Mol. Genet. 2002)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 128861 HGNC: 16204 AceView: C20orf71 Ensembl:ENSG00000131059 euGenes: HUgn128861
    ECgene: BPIFA3 H-InvDB: BPIFA3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BPIFA3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BPIFA3 gene:
    Search GeneIP for patents involving BPIFA3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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