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Aliases for BPIFB1 Gene

Aliases for BPIFB1 Gene

  • BPI Fold Containing Family B Member 1 2 3 5
  • Von Ebner Minor Salivary Gland Protein 2 3 4
  • Long Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 1 3 4
  • C20orf114 3 4
  • LPLUNC1 3 4
  • VEMSGP 3 4
  • Long Palate, Lung And Nasal Epithelium Carcinoma Associated 1 3
  • BPI Fold-Containing Family B Member 1 3
  • Chromosome 20 Open Reading Frame 114 2

External Ids for BPIFB1 Gene

Previous HGNC Symbols for BPIFB1 Gene

  • C20orf114

Previous GeneCards Identifiers for BPIFB1 Gene

  • GC20P031864

Summaries for BPIFB1 Gene

Entrez Gene Summary for BPIFB1 Gene

  • 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]

GeneCards Summary for BPIFB1 Gene

BPIFB1 (BPI Fold Containing Family B Member 1) is a Protein Coding gene. Diseases associated with BPIFB1 include Cholera and Papillary Cystadenocarcinoma. Among its related pathways are Defensins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is BPIFA1.

UniProtKB/Swiss-Prot for BPIFB1 Gene

  • May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS.

Additional gene information for BPIFB1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPIFB1 Gene

Genomics for BPIFB1 Gene

GeneHancer (GH) Regulatory Elements for BPIFB1 Gene

Promoters and enhancers for BPIFB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J033283 Promoter 1.1 EPDnew 650.4 +9.7 9718 0.1 DRAP1 SOX13 IRF2 AHR SAP130 MLX ERF KDM3A ZNF48 RBPJ BPIFB1 BPIFA1 ENSG00000224876 BPIFA3 PIR39691
GH20J033273 Enhancer 0.5 ENCODE 650.7 +0.0 21 1 GLIS1 CREB1 FOS ZIC2 ZNF644 RARA BPIFB1 RPL12P3 BPIFA1 PIR39691
GH20J033285 Enhancer 0.3 FANTOM5 39.5 +11.7 11682 0.2 ZFP3 BPIFB1 BPIFA1 ENSG00000224876 BPIFA3 BPIFB2 PIR39691
GH20J033299 Enhancer 0.8 ENCODE 11.2 +25.8 25820 0.2 ELF3 ATF1 RB1 ARID4B ZNF48 ZSCAN9 RAD21 ZNF143 CREM THAP11 LOC105372594 PIR39691 BPIFB1 RPL12P3 BPIFA1 BPIFA3 ENSG00000224876 BPIFB5P
GH20J033277 Enhancer 0.9 ENCODE 0.7 +4.8 4754 1.7 FOXA2 MLX ARID4B ZNF48 SLC30A9 NFKBIZ SP5 MXD4 PPARG KAT8 BPIFA1 BPIFA3 ENSG00000224876 BPIFA2 SUN5 EFCAB8 BPIFB1 PIR39691
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BPIFB1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BPIFB1 Gene

Genomic Locations for BPIFB1 Gene
chr20:33,273,480-33,309,878
(GRCh38/hg38)
Size:
36,399 bases
Orientation:
Plus strand
chr20:31,861,286-31,897,684
(GRCh37/hg19)

Genomic View for BPIFB1 Gene

Genes around BPIFB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPIFB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPIFB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPIFB1 Gene

Proteins for BPIFB1 Gene

  • Protein details for BPIFB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDL5-BPIB1_HUMAN
    Recommended name:
    BPI fold-containing family B member 1
    Protein Accession:
    Q8TDL5
    Secondary Accessions:
    • A8K2H8
    • Q5QP43
    • Q6UWY1
    • Q6ZRU7
    • Q96HK6
    • Q9BQP8
    • Q9BWZ6
    • Q9H4V6

    Protein attributes for BPIFB1 Gene

    Size:
    484 amino acids
    Molecular mass:
    52442 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BPIFB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BPIFB1 Gene

Post-translational modifications for BPIFB1 Gene

  • Glycosylation at posLast=401401, posLast=264264, and Asn48
  • Modification sites at PhosphoSitePlus

Other Protein References for BPIFB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BPIFB1 Gene

Domains & Families for BPIFB1 Gene

Gene Families for BPIFB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for BPIFB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDL5

UniProtKB/Swiss-Prot:

BPIB1_HUMAN :
  • Belongs to the BPI/LBP/Plunc superfamily. Plunc family.
Family:
  • Belongs to the BPI/LBP/Plunc superfamily. Plunc family.
genes like me logo Genes that share domains with BPIFB1: view

Function for BPIFB1 Gene

Molecular function for BPIFB1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS.

Gene Ontology (GO) - Molecular Function for BPIFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with BPIFB1: view
genes like me logo Genes that share phenotypes with BPIFB1: view

Animal Models for BPIFB1 Gene

MGI Knock Outs for BPIFB1:
  • Bpifb1 Bpifb1<tm1b(KOMP)Wtsi>
  • Bpifb1 Bpifb1<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for BPIFB1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPIFB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BPIFB1 Gene

Localization for BPIFB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BPIFB1 Gene

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 BPIFB1 gene
Compartment Confidence
extracellular 5
plasma membrane 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for BPIFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with BPIFB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BPIFB1 Gene

Pathways & Interactions for BPIFB1 Gene

genes like me logo Genes that share pathways with BPIFB1: view

Pathways by source for BPIFB1 Gene

3 Reactome pathways for BPIFB1 Gene

Interacting Proteins for BPIFB1 Gene

Gene Ontology (GO) - Biological Process for BPIFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002227 innate immune response in mucosa IDA 21900486
GO:0002376 immune system process IEA --
GO:0019730 antimicrobial humoral response TAS --
GO:0034144 negative regulation of toll-like receptor 4 signaling pathway IDA 21900486
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with BPIFB1: view

No data available for SIGNOR curated interactions for BPIFB1 Gene

Drugs & Compounds for BPIFB1 Gene

No Compound Related Data Available

Transcripts for BPIFB1 Gene

mRNA/cDNA for BPIFB1 Gene

Unigene Clusters for BPIFB1 Gene

BPI fold containing family B, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BPIFB1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BPIFB1 Gene

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: - -
SP6: - -
SP7:
SP8:
SP9: - - -
SP10: -
SP11: - - - -
SP12: -
SP13: - - - - - - - - - - - - - - - - - -

ExUns: 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - -

Relevant External Links for BPIFB1 Gene

GeneLoc Exon Structure for
BPIFB1
ECgene alternative splicing isoforms for
BPIFB1

Expression for BPIFB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BPIFB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BPIFB1 Gene

This gene is overexpressed in Cervix - Endocervix (x18.2), Esophagus - Mucosa (x10.7), Lung (x9.9), and Minor Salivary Gland (x8.3).

Protein differential expression in normal tissues from HIPED for BPIFB1 Gene

This gene is overexpressed in Nasal epithelium (14.9), Saliva (13.9), Cervix (12.8), and Lavage (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BPIFB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BPIFB1 Gene:

BPIFB1

SOURCE GeneReport for Unigene cluster for BPIFB1 Gene:

Hs.65551

mRNA Expression by UniProt/SwissProt for BPIFB1 Gene:

Q8TDL5-BPIB1_HUMAN
Tissue specificity: Detected in duodenum mucosal crypts of cholera patients, near Paneth cells (at protein level). Detected in trachea, nasal septal epithelium and lung.

Evidence on tissue expression from TISSUES for BPIFB1 Gene

  • Lung(4.6)
  • Muscle(4.1)
  • Stomach(2.6)
genes like me logo Genes that share expression patterns with BPIFB1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BPIFB1 Gene

Orthologs for BPIFB1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BPIFB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BPIFB1 34 33
  • 97.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BPIFB1 34 33
  • 81.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BPIFB1 34 33
  • 74.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bpifb1 16 34 33
  • 72.09 (n)
rat
(Rattus norvegicus)
Mammalia Bpifb1 33
  • 71.42 (n)
oppossum
(Monodelphis domestica)
Mammalia BPIFB1 34
  • 41 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BPIFB1 34
  • 39 (a)
OneToOne
Species where no ortholog for BPIFB1 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)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BPIFB1 Gene

ENSEMBL:
Gene Tree for BPIFB1 (if available)
TreeFam:
Gene Tree for BPIFB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BPIFB1: view image

Paralogs for BPIFB1 Gene

Paralogs for BPIFB1 Gene

genes like me logo Genes that share paralogs with BPIFB1: view

Variants for BPIFB1 Gene

Sequence variations from dbSNP and Humsavar for BPIFB1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000062882 -- 33,308,227(+) C/T intron_variant
rs1000207093 -- 33,286,547(+) G/T intron_variant
rs1000252385 -- 33,310,077(+) T/C downstream_transcript_variant
rs1000391364 -- 33,281,621(+) G/A upstream_transcript_variant
rs1000532540 -- 33,308,802(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BPIFB1 Gene

Variant ID Type Subtype PubMed ID
nsv1056411 CNV loss 25217958
nsv518678 CNV loss 19592680

Variation tolerance for BPIFB1 Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.78; 73.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BPIFB1 Gene

Human Gene Mutation Database (HGMD)
BPIFB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPIFB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPIFB1 Gene

Disorders for BPIFB1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BPIFB1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cholera
  • cholera - vibrio cholerae
papillary cystadenocarcinoma
  • cystadenocarcinoma, papillary
pharynx cancer
  • pharyngeal cancer
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BPIFB1

genes like me logo Genes that share disorders with BPIFB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BPIFB1 Gene

Publications for BPIFB1 Gene

  1. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PMID: 11971875) Bingle CD … Craven CJ (Human molecular genetics 2002) 2 3 4 58
  2. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. (PMID: 21787333) Bingle CD … Craven CJ (Biochemical Society transactions 2011) 2 3 58
  3. LPLUNC1 modulates innate immune responses to Vibrio cholerae. (PMID: 21900486) Shin OS … Harris JB (The Journal of infectious diseases 2011) 3 4 58
  4. Human LPLUNC1 is a secreted product of goblet cells and minor glands of the respiratory and upper aerodigestive tracts. (PMID: 20237794) Bingle CD … Bingle L (Histochemistry and cell biology 2010) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for BPIFB1 Gene

Sources for BPIFB1 Gene

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