Human Gene BPIFB1 (uc002wyw.1) Description and Page Index
  Description: Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.
RefSeq Summary (NM_033197): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC008429.1, AF364078.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253354.2/ ENSP00000253354.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr20:31,870,941-31,897,684 Size: 26,744 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr20:31,873,880-31,897,573 Size: 23,694 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr20:31,870,941-31,897,684)mRNA (may differ from genome)Protein (484 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=BPI fold-containing family B member 1; AltName: Full=Long palate, lung and nasal epithelium carcinoma-associated protein 1; AltName: Full=Von Ebner minor salivary gland protein; Short=VEMSGP; Flags: Precursor;
FUNCTION: May play a role in innate immunity in mouth, nose and lungs.
SUBCELLULAR LOCATION: Secreted (By similarity).
TISSUE SPECIFICITY: Detected in trachea, nasal septal epithelium and lung.
SIMILARITY: Belongs to the BPI/LBP/Plunc superfamily. Plunc family.

-  MalaCards Disease Associations
  MalaCards Gene Search: BPIFB1
Diseases sorted by gene-association score: cholera (10), papillary cystadenocarcinoma (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.39 RPKM in Minor Salivary Gland
Total median expression: 36.78 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.26161-0.399 Picture PostScript Text
3' UTR -33.30111-0.300 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017943 - Bactericidal_perm-incr_a/b_dom
IPR001124 - Lipid-bd_serum_glycop_C
IPR017942 - Lipid-bd_serum_glycop_N
IPR021193 - PLUNC_long_form

Pfam Domains:
PF01273 - LBP / BPI / CETP family, N-terminal domain
PF02886 - LBP / BPI / CETP family, C-terminal domain

SCOP Domains:
55394 - Bactericidal permeability-increasing protein, BPI

ModBase Predicted Comparative 3D Structure on Q8TDL5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0008289 lipid binding

Biological Process:
GO:0002227 innate immune response in mucosa
GO:0002376 immune system process
GO:0019730 antimicrobial humoral response
GO:0034144 negative regulation of toll-like receptor 4 signaling pathway
GO:0045087 innate immune response

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  AK290243 - Homo sapiens cDNA FLJ78502 complete cds.
AF364078 - Homo sapiens von Ebner minor protein mRNA, complete cds.
AK310964 - Homo sapiens cDNA, FLJ18006.
AK313176 - Homo sapiens cDNA, FLJ93674.
BC008429 - Homo sapiens chromosome 20 open reading frame 114, mRNA (cDNA clone MGC:14597 IMAGE:4291561), complete cds.
AY358595 - Homo sapiens clone DNA64881 C20orf114 (UNQ706) mRNA, complete cds.
HQ448293 - Synthetic construct Homo sapiens clone IMAGE:100071697; CCSB005760_01 chromosome 20 open reading frame 114 (C20orf114) gene, encodes complete protein.
KJ899955 - Synthetic construct Homo sapiens clone ccsbBroadEn_09349 BPIFB1 gene, encodes complete protein.
AK127971 - Homo sapiens cDNA FLJ46086 fis, clone TESTI2008636.
JD019902 - Sequence 926 from Patent EP1572962.
JD035994 - Sequence 17018 from Patent EP1572962.
JD175098 - Sequence 156122 from Patent EP1572962.
JD532661 - Sequence 513685 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8TDL5 (Reactome details) participates in the following event(s):

R-HSA-6809521 BPIF binds bacteria
R-HSA-6803157 Antimicrobial peptides
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2H8, BPIB1_HUMAN, C20orf114, LPLUNC1, NM_033197, NP_149974, Q5QP43, Q6UWY1, Q6ZRU7, Q8TDL5, Q96HK6, Q9BQP8, Q9BWZ6, Q9H4V6, UNQ706/PRO1357
UCSC ID: uc002wyw.1
RefSeq Accession: NM_033197
Protein: Q8TDL5 (aka BPIB1_HUMAN)
CCDS: CCDS13218.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_033197.2
exon count: 16CDS single in 3' UTR: no RNA size: 1734
ORF size: 1455CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3046.00frame shift in genome: no % Coverage: 99.60
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.