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

BPIFB1 Gene

protein-coding   GIFtS: 40
GCID: GC20P031864

BPI fold containing family B, member 1

(Previous name: chromosome 20 open reading frame 114 )
(Previous symbol: C20orf114)
 Explore 3 diseases affiliated with
BPIFB1 via our new
 Human Malady Compendium 
Biological research products
for BPIFB1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
BPI Fold Containing Family B, Member 11 2     MGC145971
C20orf1141 2 3     BA49G10.61
LPLUNC11 2 3     Chromosome 20 Open Reading Frame 1141
VEMSGP1 2 3     DJ1187J4.11
Long Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 12 3     BPI Fold-Containing Family B Member 12
Von Ebner Minor Salivary Gland Protein2 3     Long Palate, Lung And Nasal Epithelium Carcinoma Associated 12

External Ids:    HGNC: 161081   Entrez Gene: 927472   Ensembl: ENSG000001259997   UniProtKB: Q8TDL53   

Export aliases for BPIFB1 gene to outside databases


(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 BPIFB1:
The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth,
nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily.
This gene is found with other members of the superfamily in a cluster on chromosome 20. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BPIB1_HUMAN, Q8TDL5
Function: May play a role in innate immunity in mouth, nose and lungs




(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_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BPIFB1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for BPIFB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BPIFB1


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

BPIFB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPIFB1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P031864:  view genomic region     (about GC identifiers)

Start:
31,861,286 bp from pter      End:
31,897,684 bp from pter
Size:
36,399 bases      Orientation:
plus strand

(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: BPIB1_HUMAN, Q8TDL5 (See protein sequence)
Recommended Name: BPI fold-containing family B member 1 precursor  
Size: 484 amino acids; 52442 Da
Subcellular location: Secreted (By similarity)
Secondary accessions: A8K2H8 Q5QP43 Q6UWY1 Q6ZRU7 Q96HK6 Q9BQP8 Q9BWZ6 Q9H4V6
Alternative splicing: 2 isoforms:  Q8TDL5-1   Q8TDL5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BPIFB1: NX_Q8TDL5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TDL5

  • BPIFB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_149974.2  
    ENSEMBL proteins: 
     ENSP00000390471   ENSP00000253354  

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    Uscn Proteins for BPIFB1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--


    BPIFB1 for ontologies           About GeneDecksing



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

    BPIFB1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR021193 PLUNC_long_form
     IPR017942 Lipid-bd_serum_glycop_N
     IPR017943 Bactericidal_perm-incr_a/b_dom
     IPR001124 Lipid-bd_serum_glycop_C

    Graphical View of Domain Structure for InterPro Entry Q8TDL5

    ProtoNet protein and cluster: Q8TDL5

    UniProtKB/Swiss-Prot: BPIB1_HUMAN, Q8TDL5
    Similarity: Belongs to the BPI/LBP/Plunc superfamily. Plunc family


    (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: BPIB1_HUMAN, Q8TDL5
    Function: May play a role in innate immunity in mouth, nose and lungs

    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008289lipid binding IEA--


    BPIFB1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for BPIFB1:
     Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-out Bpifb1tm1Lex for BPIFB1
         1 MGI phenotypic allele for Bpifb1 (no phenotypes)

    BPIFB1 for phenotypes           About GeneDecksing


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BPIFB1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for BPIFB1 (ENSP000002533544) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KNCNENSP000003796074STRING: ENSP00000379607
    About this table

    (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 BPIFB1
    Search CenterWatch for drugs/clinical trials and news about BPIFB1 / BPIB1 

    (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 BPIFB1 gene: 
    NM_033197.2  

    Unigene Cluster for BPIFB1:

    BPI fold containing family B, member 1
    Hs.65551  [show with all ESTs]
    Unigene Representative Sequence: AK127971
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000423645 ENST00000253354(uc010gej.1 uc002wyw.1) ENST00000464032(uc002wyx.1)


    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: BPIFB1
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    Clone
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    Additional cDNA sequence: 

    AF364078.1 AK127971.1 AK290243.1 AK310964.1 AK313176.1 AY358595.1 BC008429.1 

    22 DOTS entries:

    DT.120828189  DT.95169832  DT.75100543  DT.91756245  DT.120828145  DT.91988372  DT.120828196  DT.95246603 
    DT.120828152  DT.120828155  DT.120828151  DT.120828158  DT.120828149  DT.120828162  DT.120828187  DT.120828192 
    DT.99964350  DT.100008390  DT.100672736  DT.120828186  DT.91756246  DT.95169835 

    24/645 AceView cDNA sequences (see all 645):

    NM_033197 BI821790 CD707946 BM992632 CD710034 BQ083444 BM981306 CB305554 
    BI818205 BU684110 CD693799 CA488923 CD687920 BI821769 BI770190 BM980522 
    BQ109522 BE061383 BG482718 AF364078 BP341728 CD695142 CD693798 CD684063 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for BPIFB1 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^
    SP1:                                      -     -                             -                                                                             -   
    SP2:                                                                                                                                                        -   
    SP3:                                      -     -                             -                             -     -     -                                       
    SP4:                                      -     -                             -           -     -                                                               
    SP5:                                      -     -                                                                                                               

    ExUns: 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:  -     -                                                                           
    SP2:  -     -                       -                                                   
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for BPIFB1

    (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

    BPIFB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image

    BPIFB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Primitive gut tube-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BPIFB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BPIFB1

    SOURCE GeneReport for Unigene cluster: Hs.65551

    UniProtKB/Swiss-Prot: BPIB1_HUMAN, Q8TDL5
    Tissue specificity: Detected in trachea, nasal septal epithelium and lung

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPIFB1

    (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 human and mouse.

    Orthologs for BPIFB1 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bpifb11 , 5 BPI fold containing family B, member 11, 5 72.09(n)1
    59.62(a)1
      2 (76.23 cM)5
    2288011  NM_001012392.11  NP_001012392.11 
     1541908185 


    ENSEMBL Gene Tree for BPIFB1 (if available)
    TreeFam Gene Tree for BPIFB1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BPIFB1 gene
    BPIFA12  

    BPIFB1 for paralogs           About GeneDecksing



    (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

    10/626 NCBI SNPs in BPIFB1 are shown (see all 626    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1123761891,2
    C,--31868996(+) ACAGGC/TACGTG 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs60881601,2
    H--31869006(+) gccacC/Ttaaaa 1 -- us2k1 tfbs34Minor allele frequency- T:0.00NS EA 420
    rs1387686471,2
    --31869225(+) CATTTC/TACAAT 1 -- us2k10--------
    rs1418868851,2
    --31869307(+) TGAGCC/TGTGTC 1 -- us2k10--------
    rs739063771,2
    C,--31869316(+) TCTGTC/TGGCCT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1808881831,2
    --31869319(+) GTCGGC/TCTCCA 1 -- us2k10--------
    rs1479935031,2
    --31869390(+) GGGTGA/GAGGAG 1 -- us2k10--------
    rs1864120031,2
    --31869461(+) GGCCAA/CGAGAC 1 -- us2k10--------
    rs1912562541,2
    --31869466(+) AGAGAC/TGCCAG 1 -- us2k10--------
    rs1828427471,2
    --31869560(+) TGTCCA/CAGCAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BPIFB1 (31861286 - 31897684 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BPIFB1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BPIFB1
    DNA2.0 Custom Variant and Variant Library Synthesis for BPIFB1

    (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.)
    About This Section

    BPIFB1 for disorders           About GeneDecksing

    3 diseases for BPIFB1:    About MalaCards
    carcinoma    cholera    nasopharyngitis


    Export disorders for BPIFB1 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)
    About This Section

    PubMed articles for BPIFB1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with BPIFB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PubMed id 11971875)1, 2, 3 Bingle C.D. and Craven C.J. (2002)
    2. 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. (2011)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. Human LPLUNC1 is a secreted product of goblet cells a nd minor glands of the respiratory and upper aerodigestive tracts. (PubMed id 20237794)1, 9 Bingle C.D....Bingle L. (2010)
    8. Identification of tissue-specific genes in nasopharyngeal epithelial tissue and differentially expressed genes in nasopharyngeal carcinoma by suppression subtractive hybridization and cDNA microarray. (PubMed id 12874788)1, 9 Zhang B....Li G. (2003)
    9. LPLUNC1 modulates innate immune responses to Vibrio c holerae. (PubMed id 21900486)1 Shin O.S....Harris J.B. (2011)
    10. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 92747 HGNC: 16108 AceView: C20orf114 Ensembl:ENSG00000125999 euGenes: HUgn92747
    ECgene: BPIFB1 H-InvDB: BPIFB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BPIFB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BPIFB1 gene:
    Search GeneIP for patents involving BPIFB1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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