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Aliases for BPIFA3 Gene

Aliases for BPIFA3 Gene

  • BPI Fold Containing Family A Member 3 2 3 5
  • C20orf71 3 4
  • SPLUNC3 3 4
  • Short Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 3 4
  • Short Long Palate, Lung And Nasal Epithelium Carcinoma Associated 3 3
  • BPI Fold-Containing Family A Member 3 3
  • Chromosome 20 Open Reading Frame 71 2

External Ids for BPIFA3 Gene

Previous HGNC Symbols for BPIFA3 Gene

  • C20orf71

Previous GeneCards Identifiers for BPIFA3 Gene

  • GC20P031806

Summaries for BPIFA3 Gene

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.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPIFA3 Gene

Genomics for BPIFA3 Gene

Regulatory Elements for BPIFA3 Gene

Enhancers for BPIFA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F032559 1.3 Ensembl ENCODE 16.2 -656.0 -656047 3.7 PKNOX1 MLX ARID4B DMAP1 ZNF48 SLC30A9 GLIS2 KLF7 SP3 SP5 SUN5 BPIFB5P BPIFA3 ENSG00000224876 RPL12P3 RNU1-94P PDRG1 MYLK2 LOC105372591 LOC149950
GH20F033400 1.2 ENCODE 16.2 +184.1 184053 2.1 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 BPIFB5P RPL12P3 BPIFA3 ENSG00000224876 ENSG00000229188 SUN5 LOC105372596 RPS2P1 ENSG00000272945 ASIP
GH20F033991 1.2 ENCODE 16.2 +776.7 776738 4.5 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 LOC105372596 ENSG00000229188 BPIFB5P BPIFA3 ENSG00000224876 RPL12P3 SUN5 NCOA6 RPS2P1 ENSG00000272945
GH20F033684 1.1 ENCODE 16.2 +468.6 468591 2.9 HDGF MLX WRNIP1 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS SP3 ENSG00000229188 LOC105372596 BPIFB5P RPL12P3 BPIFA3 ENSG00000224876 SUN5 RPS2P1 CBFA2T2 ZNF341-AS1
GH20F033277 1.2 Ensembl ENCODE 11.1 +60.9 60924 1.7 ATF1 MLX ARID4B ZNF48 SLC30A9 SP5 MXD4 PPARG KAT8 SSRP1 BPIFA1 BPIFA3 ENSG00000224876 BPIFA2 SUN5 EFCAB8 BPIFB1 PIR39691
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BPIFA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for BPIFA3 Gene

Chromosome:
20
Start:
33,217,310 bp from pter
End:
33,227,806 bp from pter
Size:
10,497 bases
Orientation:
Plus strand

Genomic View for BPIFA3 Gene

Genes around BPIFA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPIFA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPIFA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPIFA3 Gene

Proteins for BPIFA3 Gene

  • Protein details for BPIFA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQP9-BPIA3_HUMAN
    Recommended name:
    BPI fold-containing family A member 3
    Protein Accession:
    Q9BQP9
    Secondary Accessions:
    • Q5JWG8
    • Q6NZ38

    Protein attributes for BPIFA3 Gene

    Size:
    254 amino acids
    Molecular mass:
    28436 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BPIFA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BPIFA3 Gene

Post-translational modifications for BPIFA3 Gene

No Post-translational modifications

Other Protein References for BPIFA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BPIFA3 Gene

Domains & Families for BPIFA3 Gene

Gene Families for BPIFA3 Gene

Suggested Antigen Peptide Sequences for BPIFA3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BQP9

UniProtKB/Swiss-Prot:

BPIA3_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 BPIFA3: view

Function for BPIFA3 Gene

Gene Ontology (GO) - Molecular Function for BPIFA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with BPIFA3: view
genes like me logo Genes that share phenotypes with BPIFA3: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BPIFA3 Gene

Localization for BPIFA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BPIFA3 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 BPIFA3 gene
Compartment Confidence
extracellular 4
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for BPIFA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with BPIFA3: view

Pathways & Interactions for BPIFA3 Gene

SuperPathways for BPIFA3 Gene

No Data Available

Interacting Proteins for BPIFA3 Gene

Gene Ontology (GO) - Biological Process for BPIFA3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BPIFA3 Gene

Transcripts for BPIFA3 Gene

mRNA/cDNA for BPIFA3 Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BPIFA3 Gene

BPI fold containing family A, member 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BPIFA3 Gene

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

Relevant External Links for BPIFA3 Gene

GeneLoc Exon Structure for
BPIFA3
ECgene alternative splicing isoforms for
BPIFA3

Expression for BPIFA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BPIFA3 Gene

mRNA differential expression in normal tissues according to GTEx for BPIFA3 Gene

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for BPIFA3 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BPIFA3 Gene



Protein tissue co-expression partners for BPIFA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BPIFA3 Gene:

BPIFA3

SOURCE GeneReport for Unigene cluster for BPIFA3 Gene:

Hs.360989
genes like me logo Genes that share expression patterns with BPIFA3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for BPIFA3 Gene

Orthologs for BPIFA3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BPIFA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BPIFA3 34 35
  • 98.93 (n)
cow
(Bos Taurus)
Mammalia BPIFA3 34
  • 80.91 (n)
C13H20ORF71 35
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BPIFA3 34 35
  • 80.77 (n)
mouse
(Mus musculus)
Mammalia Bpifa3 34 16 35
  • 77.2 (n)
rat
(Rattus norvegicus)
Mammalia Bpifa3 34
  • 77.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BPIFA3 35
  • 19 (a)
OneToOne
Species where no ortholog for BPIFA3 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)
  • oppossum (Monodelphis domestica)
  • 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 BPIFA3 Gene

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

Paralogs for BPIFA3 Gene

Paralogs for BPIFA3 Gene

genes like me logo Genes that share paralogs with BPIFA3: view

Variants for BPIFA3 Gene

Sequence variations from dbSNP and Humsavar for BPIFA3 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1007470 -- 33,224,503(+) GCCCT(C/G)CTCGC intron-variant
rs111544153 -- 33,221,723(+) AGAAA(A/T)TTCTT intron-variant
rs111705791 -- 33,216,710(+) GCTGG(G/T)AGTAG upstream-variant-2KB
rs111870760 -- 33,224,191(+) CAGGG(C/T)TCCCG intron-variant
rs112066348 -- 33,225,811(+) ACATG(C/T)TGATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BPIFA3 Gene

Variant ID Type Subtype PubMed ID
nsv585926 CNV loss 21841781
nsv458964 CNV loss 19166990
nsv1060241 CNV loss 25217958
nsv1056411 CNV loss 25217958
esv2751912 CNV loss 17911159
esv2145221 CNV deletion 18987734

Variation tolerance for BPIFA3 Gene

Residual Variation Intolerance Score: 91.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BPIFA3 Gene

Human Gene Mutation Database (HGMD)
BPIFA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPIFA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BPIFA3 Gene

Disorders for BPIFA3 Gene

Relevant External Links for BPIFA3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BPIFA3

No disorders were found for BPIFA3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BPIFA3 Gene

Publications for BPIFA3 Gene

  1. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. (PMID: 21787333) Bingle C.D. … Craven C.J. (Biochem. Soc. Trans. 2011) 2 3 64
  2. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PMID: 11971875) Bingle C.D. … Craven C.J. (Hum. Mol. Genet. 2002) 2 3 64
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  4. Phylogenetic and evolutionary analysis of the PLUNC gene family. (PMID: 14739326) Bingle C.D. … Craven C.J. (Protein Sci. 2004) 3 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for BPIFA3 Gene

Sources for BPIFA3 Gene

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